2026

Clemente-Ramos, JÁ; Mole, SE; (2026) Using CMAC Staining for Vacuole Characterization in Yeast. Methods in Molecular Biology , 2976 pp. 175-188. 10.1007/978-1-0716-4844-5_13.

2025

Alhamdi, Alaa A; Mackie, Shona; Trueman, Ryan P; Rayner, Melissa LD; (2025) Pharmacologically targeting Schwann cells to improve regeneration following nerve damage. Frontiers in Cell and Developmental Biology , 13 , Article 1603752. 10.3389/fcell.2025.1603752.

Alhawaj, Ali Fouad Yassin; (2025) Integrative Genomic Analysis of Cytogenetically Normal Acute Myeloid Leukaemia. Doctoral thesis (Ph.D), UCL (University College London).

Biswas, A; Soo, AKS; Kurian, MA; Löbel, U; D'Arco, F; Batzios, S; Sudhakar, S; ... Aquilina, K; + view all Biswas, A; Soo, AKS; Kurian, MA; Löbel, U; D'Arco, F; Batzios, S; Sudhakar, S; Mankad, K; Gaur, P; Varga, P; De Vita, E; Cooper, J; Hassell, J; Hacohen, Y; Hemingway, C; Clark, CA; Rahman, S; Gissen, P; Baruteau, J; Broomfield, A; Menzies, L; Davison, J; Footitt, E; Chakrapani, A; Aquilina, K; - view fewer (2025) Imaging readiness in the gene therapy era-exploring standardized protocols for response assessment. Journal of Inherited Metabolic Disease , 48 (1) , Article e12828. 10.1002/jimd.12828.

Buonocore, Federica; Suntharalingham, Jenifer P; Ogunbiyi, Olumide K; Jones, Aragorn; Moreno, Nadjeda; Niola, Paola; Brooks, Tony; ... Achermann, John C; + view all Buonocore, Federica; Suntharalingham, Jenifer P; Ogunbiyi, Olumide K; Jones, Aragorn; Moreno, Nadjeda; Niola, Paola; Brooks, Tony; Solanky, Nita; Dattani, Mehul T; Del Valle, Ignacio; Achermann, John C; - view fewer (2025) Transcriptomic sex differences in early human fetal brain development. Communications Biology , 8 , Article 664. 10.1038/s42003-025-08070-3.

Calame, DG; Wong, JH; Panda, P; Nguyen, DT; Leong, NCP; Sangermano, R; Patankar, SG; ... Nguyen, LN; + view all Calame, DG; Wong, JH; Panda, P; Nguyen, DT; Leong, NCP; Sangermano, R; Patankar, SG; Abdel-Hamid, MS; AlAbdi, L; Safwat, S; Flannery, KP; Dardas, Z; Fatih, JM; Murali, C; Kannan, V; Lotze, TE; Herman, I; Ammouri, F; Rezich, B; Efthymiou, S; Alavi, S; Murphy, D; Firoozfar, Z; Nasab, ME; Bahreini, A; Ghasemi, M; Haridy, NA; Goldouzi, HR; Eghbal, F; Karimiani, EG; Begtrup, A; Elloumi, H; Srinivasan, VM; Gowda, VK; Du, H; Jhangiani, SN; Coban-Akdemir, Z; Marafi, D; Rodan, L; Isikay, S; Rosenfeld, JA; Ramanathan, S; Staton, M; Oberg, KC; Clark, RD; Wenman, C; Loughlin, S; Saad, R; Ashraf, T; Male, A; Tadros, S; Boostani, R; Abdel-Salam, GMH; Zaki, M; Mardi, A; Hashemi-Gorji, F; Abdalla, E; Manzini, MC; Pehlivan, D; Posey, JE; Gibbs, RA; Houlden, H; Alkuraya, FS; Bujakowska, K; Maroofian, R; Lupski, JR; Nguyen, LN; - view fewer (2025) Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Genetics in Medicine , 27 (1) , Article 101273. 10.1016/j.gim.2024.101273.

Chelban, Viorica; Pellerin, David; Vijiaratnam, Nirosen; Lee, Hamin; Goh, Yen Yee; Brown, Lauren; Sambin, Sara; ... Houlden, Henry; + view all Chelban, Viorica; Pellerin, David; Vijiaratnam, Nirosen; Lee, Hamin; Goh, Yen Yee; Brown, Lauren; Sambin, Sara; Seilhean, Danielle; Lehericy, Stephane; Iruzubieta, Pablo; Mohammad, Rahema; Self, Eleanor; Scardamaglia, Annarita; Lee, Cameron; Ostrozovicova, Miriama; Dicaire, Marie-Josée; Girges, Christine; Gustavsson, Emil K; Murphy, David; Curless, Toby; Laβ, Joshua; Trinh, Joanne; Rittman, Timothy; Rowe, James B; Hadjivassiliou, Marios; Archibald, Neil; Danzi, Matt C; Ashton, Catherine; Roth, Virginie; Wandzel, Marion; Cheung, Warren A; Gveric, Djordje O; De Vil, Bart; Follett, Jordan; Leigh, P Nigel; Beichert, Lukas; Pastinen, Tomi; Bonnet, Céline; Renaud, Mathilde; Meissner, Wassilios G; Sieben, Anne; Crosiers, David; Cras, Patrick; Zuchner, Stephan; Corvol, Jean-Christophe; Farrer, Matthew J; Synofzik, Matthis; Brais, Bernard; Warner, Tom; Morris, Huw R; Jaunmuktane, Zane; Foltynie, Tom; Houlden, Henry; - view fewer (2025) Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy. Brain , Article awaf134. 10.1093/brain/awaf134. (In press).

Cipriani, V; Vestito, L; Magavern, EF; Jacobsen, JOB; Arno, G; Behr, ER; Benson, KA; ... Smedley, D; + view all Cipriani, V; Vestito, L; Magavern, EF; Jacobsen, JOB; Arno, G; Behr, ER; Benson, KA; Bertoli, M; Bockenhauer, D; Bowl, MR; Burley, K; Chan, LF; Chinnery, P; Conlon, PJ; Costa, MA; Davidson, AE; Dawson, SJ; Elhassan, EAE; Flanagan, SE; Futema, M; Gale, DP; García-Ruiz, S; Corcia, CG; Griffin, HR; Hambleton, S; Hicks, AR; Houlden, H; Houlston, RS; Howles, SA; Kleta, R; Lekkerkerker, I; Lin, S; Liskova, P; Mitchison, HH; Morsy, H; Mumford, AD; Newman, WG; Neatu, R; O’Toole, EA; Ong, ACM; Pagnamenta, AT; Rahman, S; Rajan, N; Robinson, PN; Ryten, M; Sadeghi-Alavijeh, O; Sayer, JA; Shovlin, CL; Taylor, JC; Teltsh, O; Tomlinson, I; Tucci, A; Turnbull, C; van Eerde, AM; Ware, JS; Watts, LM; Webster, AR; Westbury, SK; Zheng, SL; Caulfield, M; Smedley, D; - view fewer (2025) Rare disease gene association discovery in the 100,000 Genomes Project. Nature 10.1038/s41586-025-08623-w. (In press).

Dalbay, Melis T; Shahaj, Eriomina; Guerrini, Ileana; Lee, Dani Do Hyang; Straatman-Iwanowska, Anna; Mitchison, Hannah M; Baines, Deborah L; ... Hart, Stephen L; + view all Dalbay, Melis T; Shahaj, Eriomina; Guerrini, Ileana; Lee, Dani Do Hyang; Straatman-Iwanowska, Anna; Mitchison, Hannah M; Baines, Deborah L; Hirst, Robert A; Hogg, Claire; O'Callaghan, Christopher; Hart, Stephen L; - view fewer (2025) Characterisation of primary ciliary dyskinesia model generated from BMI1 transduced basal epithelial cells. Journal of Cell Science , Article jcs.263886. 10.1242/jcs.263886. (In press).

Dyankova-Peeva, Daniela; Kinsler, Veronica A; (2025) Complete spontaneous resolution of NRAS-mosaic multiple congenital melanocytic naevi – proof of principle for therapeutic mole reversal. British Journal of Dermatology , Article ljaf447. 10.1093/bjd/ljaf447. (In press).

Elnaggar, AM; Dattani, M; Gan, HW; Storr, HL; Matthew Matson; Drake, WM; Dorward, N; ... Aquilina, K; + view all Elnaggar, AM; Dattani, M; Gan, HW; Storr, HL; Matthew Matson; Drake, WM; Dorward, N; Grieve, J; Aquilina, K; - view fewer (2025) Cushing’s disease in children: a single-centre experience. Child's Nervous System , 41 , Article 293. 10.1007/s00381-025-06952-9.

Farrell, C; Buhidma, Y; Mumford, P; Heywood, WE; Hällqvist, J; Flores-Aguilar, L; Andrews, EJ; ... Wiseman, FK; + view all Farrell, C; Buhidma, Y; Mumford, P; Heywood, WE; Hällqvist, J; Flores-Aguilar, L; Andrews, EJ; Rahimzadah, N; Taso, OS; Doran, E; Swarup, V; Head, E; Lashley, T; Mills, K; Toomey, CE; Wiseman, FK; - view fewer (2025) Apolipoprotein E abundance is elevated in the brains of individuals with Down syndrome-Alzheimer's disease. Acta Neuropathologica , 149 (1) , Article 49. 10.1007/s00401-025-02889-0.

Footitt, Emma J; Millington, Chloe; Newsom-Davis, Imogen; Mills, Philippa; Khalil, Youssef; Clayton, Peter T; Dixon, Marjorie; (2025) Use of lysine reduction therapies in patients with pyridoxine dependent epilepsy due to Antiquitin deficiency – A cohort study. Molecular Genetics and Metabolism , 145 (4) , Article 109170. 10.1016/j.ymgme.2025.109170.

Gaur, Pritika; Alves, Cesar; Yildiz, Harun; Mankad, Kshitij; Sudhakar, Sniya; Rahman, Shamima; Biswas, Asthik; (2025) Imaging patterns of paediatric CNS mitochondrial disorders. Neuroradiology 10.1007/s00234-025-03805-9. (In press).

Gregory, LC; Krywawych, S; Rahman, S; Lagos, Carlos F; Eaton, S; Dattani, MT; (2025) A complex multisystem disorder including hypopituitarism and hypoparathyroidism, associated with mutation in the gene encoding fatty acid synthase (FASN). Metabolism , 168 , Article 156256. 10.1016/j.metabol.2025.156256.

Grünert, Sarah C; Baumgartner, Matthias R; Bouchereau, Juliette; Burlina, Alberto; Clayton, Peter T; Heras, Javier de Las; Dionisi-Vici, Carlo; ... Sass, Jörn Oliver; + view all Grünert, Sarah C; Baumgartner, Matthias R; Bouchereau, Juliette; Burlina, Alberto; Clayton, Peter T; Heras, Javier de Las; Dionisi-Vici, Carlo; Gemperle-Britschgi, Corinne; Haase, Claudia; Korman, Stanley H; Krämer, Johannes; Kühlwein, Eva; Maier, Esther M; Maiorana, Arianna; Schiff, Manuel; Schmid, Carl Ulrich; Tangeraas, Trine; Yamamoto, Raina; Zschocke, Johannes; Sass, Jörn Oliver; - view fewer (2025) Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications. Genetics in Medicine , 27 (9) , Article 101484. 10.1016/j.gim.2025.101484.

Henke, Larissa; Ghorbani, Ali; Mole, Sara E; (2025) The use of nanocarriers in treating Batten disease: A systematic review. International Journal of Pharmaceutics , 670 , Article 125094. 10.1016/j.ijpharm.2024.125094.

Howell, KB; White, SM; McTague, A; D’Gama, AM; Costain, G; Poduri, A; Scheffer, IE; ... Scherer, SW; + view all Howell, KB; White, SM; McTague, A; D’Gama, AM; Costain, G; Poduri, A; Scheffer, IE; Chau, V; Smith, LD; Stephenson, SEM; Wojcik, M; Davidson, A; Sebire, N; Sliz, P; Beggs, AH; Chitty, LS; Cohn, RD; Marshall, CR; Andrews, NC; North, KN; Cross, JH; Christodoulou, J; Scherer, SW; - view fewer (2025) International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease. npj Genomic Medicine , 10 , Article 13. 10.1038/s41525-025-00474-8.

Husebye, Eystein S; Assié, Guillaume; Krone, Nils; Achermann, John C; Altieri, Barbara; Amar, Laurence; Araujo-Castro, Marta; ... Zennaro, Maria-Christina; + view all Husebye, Eystein S; Assié, Guillaume; Krone, Nils; Achermann, John C; Altieri, Barbara; Amar, Laurence; Araujo-Castro, Marta; Brown, Morris J; Casey, Ruth T; Claahsen-van der Grinten, Hedi L; Davies, Eleanor; Deinum, Jaap; Flück, Christa E; Kastelan, Darko; Kroiss, Matthias; Mulatero, Paolo; Laakso, Saila; Pearce, Simon H; Reincke, Martin; Reisch, Nicole; Robledo, Mercedes; Ronchi, Cristina L; Vassiliadi, Dimitra A; Wiegering, Verena; Zennaro, Maria-Christina; - view fewer (2025) EndoCompass Project: Research Roadmap for Adrenal and Cardiovascular Endocrinology. Hormone Research in Paediatrics , 98 (Suppl. 2) pp. 16-28. 10.1159/000549146.

Husebye, Eystein S; Assié, Guillaume; Krone, Nils; Achermann, John C; Altieri, Barbara; Amar, Laurence; Araujo-Castro, Marta; ... Zennaro, Maria-Christina; + view all Husebye, Eystein S; Assié, Guillaume; Krone, Nils; Achermann, John C; Altieri, Barbara; Amar, Laurence; Araujo-Castro, Marta; Brown, Morris J; Casey, Ruth T; Claahsen-van der Grinten, Hedi L; Davies, Eleanor; Deinum, Jaap; Flück, Christa E; Kastelan, Darko; Kroiss, Matthias; Mulatero, Paolo; Laakso, Saila; Pearce, Simon H; Reincke, Martin; Reisch, Nicole; Robledo, Mercedes; Ronchi, Cristina L; Vassiliadi, Dimitra A; Wiegering, Verena; Zennaro, Maria-Christina; - view fewer (2025) EndoCompass project: research roadmap for adrenal and cardiovascular endocrinology. European Journal of Endocrinology , 193 (2) ii12-ii22. 10.1093/ejendo/lvaf063.

Knöpfel, Nicole; Barberan-Martin, Sara; Polubothu, Satyamaanasa; Sauvadet, Aimie; Bryant, Dale; Laskar, Rezwanuzzaman; Izadi, Fereshteh; ... Kinsler, Veronica A; + view all Knöpfel, Nicole; Barberan-Martin, Sara; Polubothu, Satyamaanasa; Sauvadet, Aimie; Bryant, Dale; Laskar, Rezwanuzzaman; Izadi, Fereshteh; Lomas, Debra; O'Neil, Claire; Dyankova-Peeva, Daniela; Henderson, Robert A; Macrae, Frances; Cullup, Thomas; Zecchin, Davide; Del Valle Torres, Ignacio; Kinsler, Veronica A; - view fewer (2025) Gene discovery in extensive dermal melanocytosis reveals multiple mosaic causes. British Journal of Dermatology , Article ljaf481. 10.1093/bjd/ljaf481. (In press).

Knopfel, Nicole; Kuentz, Paul; Mitra, Angana; Ogunbiyi, Olumide; Communie, Antoine; Vabres, Pierre; Muinonen-Martin, Andrew; ... Kinsler, Veronica A; + view all Knopfel, Nicole; Kuentz, Paul; Mitra, Angana; Ogunbiyi, Olumide; Communie, Antoine; Vabres, Pierre; Muinonen-Martin, Andrew; Sebire, Neil J; Martin, Ludovic; Polubothu, Satyamaanasa; Kinsler, Veronica A; - view fewer (2025) Segmental corymbiform congenital melanocytic naevi: Implications for melanocytic embryology. Journal of The European Academy of Dermatology and Venereology 10.1111/jdv.20661.

Kristensen, Erle; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Brodtkorb, Eylert; Ostergaard, Elsebet; ... Hikmat, Omar; + view all Kristensen, Erle; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Brodtkorb, Eylert; Ostergaard, Elsebet; De Coo, Irenaeus; Pias-Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Majamaa, Kari; Kärppä, Mikko; Martikainen, Mika H; Ortigoza-Escobar, Juan Dario; Tangeraas, Trine; Berland, Siren; Sue, Carolyn M; Walker, Judith Sylvia; Harrison, Emma; Biggs, Heather; Horvath, Rita; Darin, Niklas; Rahman, Shamima; Hikmat, Omar; - view fewer (2025) Liver Involvement in POLG Disease—a Multicentre Cohort Study of 202 Patients. Journal of Inherited Metabolic Disease , 48 (6) , Article e70112. 10.1002/jimd.70112.

Laß, Joshua; Thomsen, Mirja; Borsche, Max; Lüth, Theresa; Prietzsche, Julia C; Schaake, Susen; Milovanović, Andona; ... Trinh, Joanne; + view all Laß, Joshua; Thomsen, Mirja; Borsche, Max; Lüth, Theresa; Prietzsche, Julia C; Schaake, Susen; Milovanović, Andona; Macpherson, Hannah; Gustavsson, Emil K; Saffie Awad, Paula; Dragašević-Mišković, Nataša; Laabs, Björn-Hergen; König, Inke R; Westenberger, Ana; Pearson, Christopher E; Brüggemann, Norbert; Klein, Christine; Trinh, Joanne; - view fewer (2025) FGF14 repeat length and mosaic interruptions: modifiers of spinocerebellar ataxia 27B? Brain , Article awaf183. 10.1093/brain/awaf183. (In press).

McGlacken-Byrne, Sinead M; Del Valle, Ignacio; Xenakis, Theodoros; Simcock, Ian C; Suntharalingham, Jenifer P; Buonocore, Federica; Crespo, Berta; ... Achermann, John C; + view all McGlacken-Byrne, Sinead M; Del Valle, Ignacio; Xenakis, Theodoros; Simcock, Ian C; Suntharalingham, Jenifer P; Buonocore, Federica; Crespo, Berta; Moreno, Nadjeda; Liptrot, Danielle; Niola, Paola; Brooks, Tony; Conway, Gerard S; Dattani, Mehul T; Arthurs, Owen J; Solanky, Nita; Achermann, John C; - view fewer (2025) Mapping the anatomical and transcriptional landscape of early human fetal ovary development. Scientific Reports , 15 , Article 15814. 10.1038/s41598-025-96135-y.

McGlacken-Byrne, Sinead M; Del Valle, Ignacio; Xenakis, Theodoros; Suntharalingham, Jenifer P; Nel, Lydia; Liptrot, Danielle; Crespo, Berta; ... Achermann, John C; + view all McGlacken-Byrne, Sinead M; Del Valle, Ignacio; Xenakis, Theodoros; Suntharalingham, Jenifer P; Nel, Lydia; Liptrot, Danielle; Crespo, Berta; Ogunbiyi, Olumide K; Niola, Paola; Brooks, Tony; Solanky, Nita; Conway, Gerard S; Achermann, John C; - view fewer (2025) Characterizing the Human Fetal Perimeiotic 45,X Ovary at Single-Cell Resolution. Journal of the Endocrine Society , 9 (7) , Article bvaf094. 10.1210/jendso/bvaf094.

McGlacken-Byrne, Sinead M; Suntharalingham, Jenifer P; Ishida, Miho; Buonocore, Federica; del Valle, Ignacio; Cameron-Pimblett, Antoinette; Dattani, Mehul T; ... Conway, Gerard S; + view all McGlacken-Byrne, Sinead M; Suntharalingham, Jenifer P; Ishida, Miho; Buonocore, Federica; del Valle, Ignacio; Cameron-Pimblett, Antoinette; Dattani, Mehul T; Achermann, John C; Conway, Gerard S; - view fewer (2025) A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency. The Journal of Clinical Endocrinology & Metabolism , Article dgaf124. 10.1210/clinem/dgaf124. (In press).

Meng, Jinhong; Ma, Shunyi; Lone, Museer A; Lam, Hou Wang; Zhang, Qiang; Cheng, Shuzhi; Mackie, Shona; ... Zhou, Haiyan; + view all Meng, Jinhong; Ma, Shunyi; Lone, Museer A; Lam, Hou Wang; Zhang, Qiang; Cheng, Shuzhi; Mackie, Shona; Graham, Emma; Kedzior, Hanna; Demetriou, Charalambos; Ziak, Nicole; Andreoli, Laura; Beggs, Simon; Koch, Stephanie; Clark, Alex J; Bennett, David L; Hornemann, Thorsten; Muntoni, Francesco; Reilly, Mary M; Zhou, Haiyan; - view fewer (2025) Antisense oligonucleotides reverse SPTLC1-related hereditary sensory neuropathy in a mouse model. Brain , Article awaf403. 10.1093/brain/awaf403. (In press).

Mole, Sara E; Gissen, Paul; Nordstrom, Shannon; Wait, Suzanne; Allen, Loise; Antonini, Mathilda; Brownnutt, Liz; ... Nightingale, Joanna; + view all Mole, Sara E; Gissen, Paul; Nordstrom, Shannon; Wait, Suzanne; Allen, Loise; Antonini, Mathilda; Brownnutt, Liz; Brown, Richard; Cole, Barbara; Gibbon, Frances; Henderson, Robert H; Kenrick, Sarah; Sisic, Zlatko; Thompson, Bob; Nightingale, Joanna; - view fewer (2025) Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom. Orphanet Journal of Rare Diseases , 20 , Article 223. 10.1186/s13023-025-03747-8.

Mole, SE; Gardner, E; Mason, HL; (2025) How can real-world data, registries, and databases address the challenges of rare diseases? Medical Writing , 34 (1) pp. 46-50. 10.56012/kwle5627.

Patterson, Marc C; Ramaswami, Uma; Donald, Aimee; Foltan, Tomas; Gautschi, Matthias; Gissen, Paul; Hahn, Andreas; ... Bremova-Ertl, Tatiana; + view all Patterson, Marc C; Ramaswami, Uma; Donald, Aimee; Foltan, Tomas; Gautschi, Matthias; Gissen, Paul; Hahn, Andreas; Jones, Simon A; Kay, Richard; Kolniková, Miriam; Park, Julien; Reichmannová, Stella; Walterfang, Mark; Wibawa, Pierre; Rohrbach, Marianne; Martakis, Kyriakos; Bremova-Ertl, Tatiana; - view fewer (2025) Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C. Neurology , 105 (1) , Article e213589. 10.1212/WNL.0000000000213589.

Rahim, Ahad A; Kurian, Manju A; Zhou, Haiyan; Ferguson, Ross; Tabrizi, Sarah J; Lignani, Gabriele; Aquilina, Kristian; Rahim, Ahad A; Kurian, Manju A; Zhou, Haiyan; Ferguson, Ross; Tabrizi, Sarah J; Lignani, Gabriele; Aquilina, Kristian; Waddington, Simon N; - view fewer (2025) Genetic therapies for neurological diseases. Pharmacological Reviews , Article 100093. 10.1016/j.pharmr.2025.100093.

Saad, Ramy; Costeira, Ricardo; Matías-García, Pamela R; Villicaña, Sergio; Gieger, Christian; Suhre, Karsten; Peters, Annette; ... Bell, Jordana T; + view all Saad, Ramy; Costeira, Ricardo; Matías-García, Pamela R; Villicaña, Sergio; Gieger, Christian; Suhre, Karsten; Peters, Annette; Kastenmüller, Gabi; Rodriguez-Mateos, Ana; Dias, Cristina; Menni, Cristina; Waldenberger, Melanie; Bell, Jordana T; - view fewer (2025) Theobromine is associated with slower epigenetic ageing. Aging 10.18632/aging.206344. (In press).

Schlosser, Corinna Silvia; (2025) Advanced delivery systems to address current challenges of polypeptide formulations. Doctoral thesis (Ph.D), UCL (University College London).

Smith, Emma J; Hill, Melissa; Chitty, Lyn S; Morris, Stephen; (2025) Costs and cost-effectiveness of returning secondary findings from genomic sequencing based on the return of additional findings in the 100,000 Genomes Project. Genetics in Medicine , Article 101479. 10.1016/j.gim.2025.101479. (In press).

Stafford-Smith, Bethany; Daniel, Morgan; Peter, Michelle; Gurasashvili, Jana; Baptiste, Rashida; Bracke-Manzanares, Xavier; Georgiou, Lamprini; ... Hill, Melissa; + view all Stafford-Smith, Bethany; Daniel, Morgan; Peter, Michelle; Gurasashvili, Jana; Baptiste, Rashida; Bracke-Manzanares, Xavier; Georgiou, Lamprini; Green-Armytage, Adele; Griffin, Blanche; Lumborg, Bethany; Paternoster, Ben; Smith, Emma; Balasubramanian, Meena; Bownass, Lucy; Brennan, Paul; Cleaver, Ruth; Clowes, Virginia; Costello, Philandra; DeSouza, Bianca; Dubois, Louise; George, Angela; George, Elaine; Harrison, Rachel; Hawkes, Lara; Humphries, Steve E; Jones, Alan; Jones, Elizabeth A; Kraus, Alison; Holiday, Deborah; McEntagart, Meriel; Somarathi, Suresh; Taylor, Amy; Tripathi, Vishakha; Morris, Stephen; Chitty, Lyn S; Hill, Melissa; - view fewer (2025) Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed methods study exploring participant experiences of receiving secondary findings from genomic sequencing. Genetics in Medicine , Article 101446. 10.1016/j.gim.2025.101446. (In press).

Stone, Thomas J; Pickles, Jessica C; Ogunbiyi, Olumide; Yasin, Shireena A; Taylor, Catherine A; Ahmed, Saira W; Chalker, Jane; ... Jacques, Thomas S; + view all Stone, Thomas J; Pickles, Jessica C; Ogunbiyi, Olumide; Yasin, Shireena A; Taylor, Catherine A; Ahmed, Saira W; Chalker, Jane; Dryden, Carryl; Slodkowska, Iwona; Pang, Emily; Kristiansen, Mark; Williams, Rachel; Tutill, Helena; Williams, Charlotte A; Madhan, Gaganjit K; Forrest, Leysa; Brooks, Tony; Hubank, Mike; Hughes, Debbie; Proszek, Paula; Pietka, Grzegorz; Peat, Erin; Hargrave, Darren; Jacques, Thomas S; - view fewer (2025) The tumour microenvironment of pilocytic astrocytoma evolves over time via enrichment for microglia. Acta Neuropathologica Communications , 13 , Article 30. 10.1186/s40478-024-01922-9.

Suntharalingham, Jenifer P; Del Valle, Ignacio; Buonocore, Federica; McGlacken-Byrne, Sinead M; Brooks, Tony; Ogunbiyi, Olumide K; Liptrot, Danielle; ... Achermann, John C; + view all Suntharalingham, Jenifer P; Del Valle, Ignacio; Buonocore, Federica; McGlacken-Byrne, Sinead M; Brooks, Tony; Ogunbiyi, Olumide K; Liptrot, Danielle; Dunton, Nathan; Madhan, Gaganjit K; Metcalfe, Kate; Nel, Lydia; Marshall, Abigail R; Ishida, Miho; Sebire, Neil J; Moore, Gudrun E; Crespo, Berta; Solanky, Nita; Conway, Gerard S; Achermann, John C; - view fewer (2025) The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development. Communications Biology , 8 , Article 249. 10.1038/s42003-025-07699-4.

Torres-Masjoan, Laia; Aguti, Sara; Zhou, Haiyan; Muntoni, Francesco; (2025) Clinical applications of exon skipping antisense oligonucleotides in neuromuscular diseases. Molecular Therapy 10.1016/j.ymthe.2025.04.038. (In press).

Vacante, Francesca; Sanchez-Esteban, Sandra; Tsarouchas, Themistoklis; Rodor, Julie; Bennett, Matthew; Carroll, Melissa S; Beqqali, Abdelaziz; Vacante, Francesca; Sanchez-Esteban, Sandra; Tsarouchas, Themistoklis; Rodor, Julie; Bennett, Matthew; Carroll, Melissa S; Beqqali, Abdelaziz; Baker, Andrew H; - view fewer (2025) Effective Transcriptional Induction of the CARMN/miR-143/145 Complex Locus in Smooth Muscle Cells Using CRISPR Activation. Arteriosclerosis, Thrombosis, and Vascular Biology 10.1161/atvbaha.124.322353. (In press).

Varhaug, Kristin N; Aanestad, Eivind; Holmaas, Gunhild; Wollertsen, Yvonne Myrtvedt; Berland, Siren; Veiby, Gyri; Eichele, Tom; ... Hikmat, Omar; + view all Varhaug, Kristin N; Aanestad, Eivind; Holmaas, Gunhild; Wollertsen, Yvonne Myrtvedt; Berland, Siren; Veiby, Gyri; Eichele, Tom; Bjørk, Marte-Helene; Rahman, Shamima; Hikmat, Omar; - view fewer (2025) The impact of induced burst suppression on outcomes in patients with POLG-related status epilepticus. Seizure: European Journal of Epilepsy 10.1016/j.seizure.2025.05.004. (In press).

Young, Randee E; Qiao, Lu; Hernan, Rebecca; Sweetser, David A; Waxler, Jessica L; Scott, Daryl A; Scott, Tiana M; ... Chung, Wendy K; + view all Young, Randee E; Qiao, Lu; Hernan, Rebecca; Sweetser, David A; Waxler, Jessica L; Scott, Daryl A; Scott, Tiana M; Lalani, Seema R; Azamian, Mahshid S; Rosenfeld, Jill A; Bostwick, Bret; Burrage, Lindsay C; Undiagnosed Diseases Network; Rodan, Lance H; Russell, Bianca E; Dutra-Clarke, Marina; Kruer, Michael; Bakhtiarim, Somayeh; Darvish, Hossein; Amor, David J; Rahman, Shamima; Stals, Karen; Bradley, Lisa; Byrne, Susan; Tolusso, Leandra K; Wong, Beatrix; Benedict, Laura; Wallis, Kimberly; Micke, Kestutis; Colson, Cindy; Smol, Thomas; Southwick, Sabrina V; Miller, Kristen A; Kush, Michelle L; Chorin, Odelia; Rothschild, Annick; Wang, Wei; Shen, Yufeng; Chung, Wendy K; - view fewer (2025) LONP1 Variants Are Associated With Clinically Diverse Phenotypes. Clinical Genetics , Article cge.70057. 10.1111/cge.70057. (In press).

2024

Achermann, John C; (2024) Steroidogenic factor-1 (NR5A1): orphan nuclear receptor finds a home in human reproduction, and beyond. EBioMedicine , 100 , Article 104984. 10.1016/j.ebiom.2024.104984.

Ahmad, Mushtaha; ElRasoul, Alaa; Sedayou, Raneem; Tamboosi, Mohammed; Mahroos, Hanan; Alrashed, Shaimaa; Tunkar, Mariam; ... Alshaikh, Nahla M; + view all Ahmad, Mushtaha; ElRasoul, Alaa; Sedayou, Raneem; Tamboosi, Mohammed; Mahroos, Hanan; Alrashed, Shaimaa; Tunkar, Mariam; Alzahrani, Faisal; Alharbi, Mohammed; Aljehani, Mona; Alahmari, Mousa; Alqarni, Khalid; Gashlan, Maha; Yilmaz, Berna Seker; Alshaikh, Nahla M; - view fewer (2024) Safety and effectiveness of ataluren in patients with Duchenne muscular dystrophy: single-center experience from Saudi Arabia. Journal of International Medical Research , 52 (12) 10.1177/03000605241305252.

Akcan, N; Verdecchia, F; Hindmarsh, PC; Dattani, M; (2024) Contribution of Sex Steroids in Management of Tall Stature: Is It Effective or Not? Hormone Research in Paediatrics 10.1159/000542553.

Alba-González, Anabel; Dragomir, Elena I; Haghdousti, Golsana; Yáñez, Julián; Dadswell, Chris; González-Méndez, Ramón; Wilson, Stephen W; ... Folgueira, Mónica; + view all Alba-González, Anabel; Dragomir, Elena I; Haghdousti, Golsana; Yáñez, Julián; Dadswell, Chris; González-Méndez, Ramón; Wilson, Stephen W; Tuschl, Karin; Folgueira, Mónica; - view fewer (2024) Manganese Overexposure Alters Neurogranin Expression and Causes Behavioral Deficits in Larval Zebrafish. International Journal of Molecular Sciences , 25 (9) , Article 4933. 10.3390/ijms25094933.

Apps, John R; Gonzalez-Meljem, Jose Mario; Guiho, Romain; Pickles, Jessica C; Prince, Eric; Schwalbe, Edward; Joshi, Nikhil; ... Martinez-Barbera, Juan Pedro; + view all Apps, John R; Gonzalez-Meljem, Jose Mario; Guiho, Romain; Pickles, Jessica C; Prince, Eric; Schwalbe, Edward; Joshi, Nikhil; Stone, Thomas J; Ogunbiyi, Olumide; Chalker, Jane; Bassey, Akang; Otto, Georg; Davies, Rosalind; Hughes, Debbie; Brandner, Sebastian; Tan, Enrica; Lee, Victoria; Hayhurst, Caroline; Kline, Cassie; Castellano, Sergi; Hankinson, Todd; Deutschbein, Timo; Jacques, Thomas S; Martinez-Barbera, Juan Pedro; - view fewer (2024) Recurrent adamantinomatous craniopharyngiomas show MAPK pathway activation, clonal evolution and rare TP53-loss-mediated malignant progression. Acta Neuropathologica Communications , 12 , Article 127. 10.1186/s40478-024-01838-4.

Baruteau, J; Brunetti-Pierri, N; Gissen, P; (2024) Liver-directed gene therapy for inherited metabolic diseases. Journal of Inherited Metabolic Disease , 47 (1) pp. 9-21. 10.1002/jimd.12709.

Baruteau, Julien; Keshavan, Nandaki; Venditti, Charles P; (2024) Mission possible: Gene therapy for inherited metabolic diseases. Journal of Inherited Metabolic Disease , 47 (1) pp. 5-6. 10.1002/jimd.12708.

Beal, Felicity; Forrester, Natalie; Watson, Elizabeth; Williams, Maggie; Buckton, Andrew; Marlais, Matko; Maxted, Andrew; ... Platt, Caroline; + view all Beal, Felicity; Forrester, Natalie; Watson, Elizabeth; Williams, Maggie; Buckton, Andrew; Marlais, Matko; Maxted, Andrew; Woolf, Adrian S; Saleem, Moin A; Platt, Caroline; - view fewer (2024) A targeted gene panel illuminates pathogenesis in young people with unexplained kidney failure. Journal of Nephrology , 37 pp. 1273-1284. 10.1007/s40620-024-01964-1.

Bernhardt, I; Van Dorp, L; Dixon, M; McSweeney, M; Gan, C; Baruteau, J; Chakrapani, A; (2024) Pyruvate carboxylase deficiency type C; variable presentation and beneficial effect of triheptanoin. JIMD Reports , 65 (1) pp. 10-16. 10.1002/jmd2.12405.

Bookey, Niamh; Drago, Paola; Leung, Kit-Yi; Hughes, Linda; MacCooey, Aoife; Ozaki, Mari; Henry, Michael; ... Parle-McDermott, Anne; + view all Bookey, Niamh; Drago, Paola; Leung, Kit-Yi; Hughes, Linda; MacCooey, Aoife; Ozaki, Mari; Henry, Michael; De Castro, Sandra CP; Doykov, Ivan; Heywood, Wendy E; Mills, Kevin; Murphy, Michelle M; Cavallé-Busquets, Pere; Campbell, Susan; Burtenshaw, Denise; Meleady, Paula; Chill, Paul A; Greene, Nicholas DE; Parle-McDermott, Anne; - view fewer (2024) The Differential Translation Capabilities of the Human DHFR2 Gene Indicates a Developmental and Tissue-Specific Endogenous Protein of Low Abundance. Mol Cell Proteomics , 23 (3) , Article 100718. 10.1016/j.mcpro.2024.100718.

Bremova-Ertl, Tatiana; Ramaswami, Uma; Brands, Marion; Foltan, Tomas; Gautschi, Matthias; Gissen, Paul; Gowing, Francesca; ... Martakis, Kyriakos; + view all Bremova-Ertl, Tatiana; Ramaswami, Uma; Brands, Marion; Foltan, Tomas; Gautschi, Matthias; Gissen, Paul; Gowing, Francesca; Hahn, Andreas; Jones, Simon; Kay, Richard; Kolnikova, Miriam; Arash-Kaps, Laila; Marquardt, Thorsten; Mengel, Eugen; Park, Julien H; Reichmannová, Stella; Schneider, Susanne A; Sivananthan, Siyamini; Walterfang, Mark; Wibawa, Pierre; Strupp, Michael; Martakis, Kyriakos; - view fewer (2024) Trial of N-Acetyl-l-Leucine in Niemann–Pick Disease Type C. New England Journal of Medicine , 390 (5) pp. 421-431. 10.1056/nejmoa2310151.

Bryant, Dale; Barberan-Martin, Sara; Maeshima, Ruhina; Torres, Ignacio Del Valle; Rabii, Mohammad; Baird, William; Sauvadet, Aimie; ... Kinsler, Veronica A; + view all Bryant, Dale; Barberan-Martin, Sara; Maeshima, Ruhina; Torres, Ignacio Del Valle; Rabii, Mohammad; Baird, William; Sauvadet, Aimie; Demetriou, Charalambos; Jones, Phoebe; Knöpfel, Nicole; Michailidis, Fanourios; Riachi, Melissa; Bennett, Dorothy C; Zecchin, Davide; Pittman, Alan; Polubothu, Satyamaanasa; Hart, Stephen; Kinsler, Veronica A; - view fewer (2024) RNA therapy for oncogenic NRAS-driven naevi induces apoptosis. Journal of Investigative Dermatology 10.1016/j.jid.2024.04.031. (In press).

Buonocore, Federica; Balys, Monika; Anderson, Glenn; Achermann, John C; (2024) Investigating ultrastructural morphology in MIRAGE syndrome-derived fibroblasts using transmission electron microscopy. F1000Research , 12 , Article 155. 10.12688/f1000research.129559.2.

Burgoyne, Thomas; Fassad, Mahmoud R; Schultz, Rüdiger; Elenius, Varpu; Lim, Jacqueline SY; Freke, Grace; Rai, Ranjit; ... Sironen, Anu I; + view all Burgoyne, Thomas; Fassad, Mahmoud R; Schultz, Rüdiger; Elenius, Varpu; Lim, Jacqueline SY; Freke, Grace; Rai, Ranjit; Mohammed, Mai A; Mitchison, Hannah M; Sironen, Anu I; - view fewer (2024) HYDIN variants cause primary ciliary dyskinesia in the Finnish population. Pediatric Pulmonology 10.1002/ppul.27267. (In press).

Cameron-Pimblett, Antoinette; La Rosa, Clementina; Davies, Melanie C; Suntharalingham, Jenifer P; Ishida, Miho; Achermann, John C; Conway, Gerard S; (2024) Characterization of Turner Syndrome-associated Diabetes Mellitus. The Journal of Clinical Endocrinology & Metabolism , Article dgae357. 10.1210/clinem/dgae357. (In press).

Captur, Gabriella; Doykov, Ivan; Chung, Sheng-Chia; Field, Ella; Barnes, Annabelle; Zhang, Enpei; Heenan, Imogen; ... Kaski, Juan Pablo; + view all Captur, Gabriella; Doykov, Ivan; Chung, Sheng-Chia; Field, Ella; Barnes, Annabelle; Zhang, Enpei; Heenan, Imogen; Norrish, Gabrielle; Moon, James C; Elliott, Perry M; Heywood, Wendy E; Mills, Kevin; Kaski, Juan Pablo; - view fewer (2024) Novel Multiplexed Plasma Biomarker Panel Has Diagnostic and Prognostic Potential in Children With Hypertrophic Cardiomyopathy. Circulation: Genomic and Precision Medicine , 17 (3) , Article e004448. 10.1161/CIRCGEN.123.004448.

Chen, Z; Gustavsson, EK; Macpherson, H; Anderson, C; Clarkson, C; Rocca, C; Self, E; ... Ptáček, LJ; + view all Chen, Z; Gustavsson, EK; Macpherson, H; Anderson, C; Clarkson, C; Rocca, C; Self, E; Alvarez Jerez, P; Scardamaglia, A; Pellerin, D; Montgomery, K; Lee, J; Gagliardi, D; Luo, H; Hardy, J; Polke, J; Singleton, AB; Blauwendraat, C; Mathews, KD; Tucci, A; Fu, YH; Houlden, H; Ryten, M; Ptáček, LJ; - view fewer (2024) Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4. Movement Disorders 10.1002/mds.29704. (In press).

Chen, Zhongbo; Alvarez Jerez, Pilar; Anderson, Claire; Paucar, Martin; Lee, Jasmaine; Nilsson, Daniel; Macpherson, Hannah; ... Houlden, Henry; + view all Chen, Zhongbo; Alvarez Jerez, Pilar; Anderson, Claire; Paucar, Martin; Lee, Jasmaine; Nilsson, Daniel; Macpherson, Hannah; Scardamaglia, Annarita; Montgomery, Kylie; Hardy, John; Singleton, Andrew B; Tucci, Arianna; Mathews, Katherine D; Fu, Ying-Hui; Engvall, Martin; Laffita-Mesa, José; Nennesmo, Inger; Wedell, Anna; Ptáček, Louis J; Blauwendraat, Cornelis; Gustavsson, Emil K; Svenningsson, Per; Ryten, Mina; Houlden, Henry; - view fewer (2024) The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder. Movement Disorders 10.1002/mds.30077. (In press).

Chen, Zhongbo; Morris, Huw R; Polke, James; Wood, Nicholas W; Gandhi, Sonia; Ryten, Mina; Houlden, Henry; Chen, Zhongbo; Morris, Huw R; Polke, James; Wood, Nicholas W; Gandhi, Sonia; Ryten, Mina; Houlden, Henry; Tucci, Arianna; - view fewer (2024) Repeat expansion disorders. Practical Neurology 10.1136/pn-2023-003938. (In press).

Chhabra, Preeti; Tully, Damien C; Mans, Janet; Niendorf, Sandra; Barclay, Leslie; Cannon, Jennifer L; Montmayeur, Anna M; ... Vinjé, Jan; + view all Chhabra, Preeti; Tully, Damien C; Mans, Janet; Niendorf, Sandra; Barclay, Leslie; Cannon, Jennifer L; Montmayeur, Anna M; Pan, Chao-Yang; Page, Nicola; Williams, Rachel; Tutill, Helena; Roy, Sunando; Celma, Cristina; Beard, Stuart; Mallory, Michael L; Manouana, Gédéon Prince; Velavan, Thirumalaisamy P; Adegnika, Ayola Akim; Kremsner, Peter G; Lindesmith, Lisa C; Hué, Stéphane; Baric, Ralph S; Breuer, Judith; Vinjé, Jan; - view fewer (2024) Emergence of Novel Norovirus GII.4 Variant. Emerging Infectious Diseases , 30 (1) pp. 163-167. 10.3201/eid3001.231003.

Dobloug, Sigurd; Kjellstroem, Ulrika; Anderson, Glenn; Gardner, Emily; Mole, Sara E; Sheth, Jayesh; Puschmann, Andreas; (2024) Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants. Molecular Genetics and Genomic Medicine , 12 (8) , Article e2505. 10.1002/mgg3.2505.

Dodd, Daniel O; Mechaussier, Sabrina; Yeyati, Patricia L; McPhie, Fraser; Anderson, Jacob R; Khoo, Chen Jing; Shoemark, Amelia; ... Mill, Pleasantine; + view all Dodd, Daniel O; Mechaussier, Sabrina; Yeyati, Patricia L; McPhie, Fraser; Anderson, Jacob R; Khoo, Chen Jing; Shoemark, Amelia; Gupta, Deepesh K; Attard, Thomas; Zariwala, Maimoona A; Legendre, Marie; Bracht, Diana; Wallmeier, Julia; Gui, Miao; Fassad, Mahmoud R; Parry, David A; Tennant, Peter A; Meynert, Alison; Wheway, Gabrielle; Fares-Taie, Lucas; Black, Holly A; Mitri-Frangieh, Rana; Faucon, Catherine; Kaplan, Josseline; Patel, Mitali; McKie, Lisa; Megaw, Roly; Gatsogiannis, Christos; Mohamed, Mai A; Aitken, Stuart; Gautier, Philippe; Reinholt, Finn R; Hirst, Robert A; O'Callaghan, Chris; Heimdal, Ketil; Bottier, Mathieu; Escudier, Estelle; Crowley, Suzanne; Descartes, Maria; Jabs, Ethylin W; Kenia, Priti; Amiel, Jeanne; Bacci, Giacomo Maria; Calogero, Claudia; Palazzo, Viviana; Tiberi, Lucia; Blümlein, Ulrike; Rogers, Andrew; Wambach, Jennifer A; Wegner, Daniel J; Fulton, Anne B; Kenna, Margaret; Rosenfeld, Margaret; Holm, Ingrid A; Quigley, Alan; Hall, Emma A; Murphy, Laura C; Cassidy, Diane M; von Kriegsheim, Alex; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon, Jean-François; Pasquier, Laurent; Murris, Marlène S; Chalmers, James D; Hogg, Claire; Macleod, Kenneth A; Urquhart, Don S; Unger, Stefan; Aitman, Timothy J; Amselem, Serge; Leigh, Margaret W; Knowles, Michael R; Omran, Heymut; Mitchison, Hannah M; Brown, Alan; Marsh, Joseph A; Welburn, Julie PI; Ti, Shih-Chieh; Horani, Amjad; Rozet, Jean-Michel; Perrault, Isabelle; Mill, Pleasantine; - view fewer (2024) Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Science , 384 (6694) , Article eadf5489. 10.1126/science.adf5489.

Dore, Rhys; Nizza, Isabella E; Mitchison, Hannah M; Lewis, Celine; (2024) ‘Don’t let it hold you back’ — The experience of transition to adulthood in young people with primary ciliary dyskinesia: An interpretative phenomenological analysis. Journal of Health Psychology 10.1177/13591053231223912. (In press).

Dorosh, Olha; Bodak, Khrystyna; Tsymbalyuk-Voloshyn, Iryna; Makukh, Halyna; Kreminska, Olena; Hrytsiuk, Ihor; Battisti, Laura; ... Yoshimi, Ayami; + view all Dorosh, Olha; Bodak, Khrystyna; Tsymbalyuk-Voloshyn, Iryna; Makukh, Halyna; Kreminska, Olena; Hrytsiuk, Ihor; Battisti, Laura; Erlacher, Miriam; Wlodarski, Marcin; McGlacken-Byrne, Sinead M; Achermann, John C; Niemeyer, Charlotte M; Yoshimi, Ayami; - view fewer (2024) Comment on: Congenital dyserythropoietic anemia type IV with KLF1 E325K mutation: A new case with dysmorphic male genitalia. Report of a second case. Pediatric Blood & Cancer , 71 (11) , Article e31294. 10.1002/pbc.31294.

Duff, Claire; Islam, Madeha; Gagliano, Onelia; Pramod, Hema; Rashidi, Hassan; Kurian, Manju; Gissen, Paul; Duff, Claire; Islam, Madeha; Gagliano, Onelia; Pramod, Hema; Rashidi, Hassan; Kurian, Manju; Gissen, Paul; Baruteau, Julien; - view fewer (2024) Generation of induced pluripotent stem cells (UCLi024-A) from a patient with argininosuccinate lyase deficiency carrying a homozygous c.437G > A (p.Arg146Gln) mutation. Stem Cell Research , 76 , Article 103365. 10.1016/j.scr.2024.103365.

Engin, Zeynep; Gardner, Emily; Hyde, Andrew; Verhulst, Stefaan; Crowcroft, Jon; (2024) Unleashing collective intelligence for public decision-making: the Data for Policy community. Data & Policy , 6 , Article e23. 10.1017/dap.2024.2.

Fu, Bin; Brock, Emma E; Andrews, Rebecca; Breiter, Jonathan C; Tian, Ru; Toomey, Christina E; Lachica, Joanne; ... Lee, Steven F; + view all Fu, Bin; Brock, Emma E; Andrews, Rebecca; Breiter, Jonathan C; Tian, Ru; Toomey, Christina E; Lachica, Joanne; Lashley, Tammaryn; Ryten, Mina; Wood, Nicholas W; Vendruscolo, Michele; Gandhi, Sonia; Weiss, Lucien E; Beckwith, Joseph S; Lee, Steven F; - view fewer (2024) RASP: Optimal Single Puncta Detection in Complex Cellular Backgrounds. The Journal of Physical Chemistry B , 128 (15) pp. 3585-3597. 10.1021/acs.jpcb.4c00174.

Gan, Hoong-Wei; Cerbone, Manuela; Dattani, Mehul Tulsidas; (2024) Appetite- and Weight-Regulating Neuroendocrine Circuitry in Hypothalamic Obesity. Endocrine Reviews , 45 (3) pp. 309-342. 10.1210/endrev/bnad033.

Guri-Lamce, Ina; Alrokh, Yara; Graham, Carina; Maeshima, Ruhina; Rognoni, Emanuel; Caley, Matthew; Łaczmański, Łukasz; ... Jacków-Malinowska, Joanna; + view all Guri-Lamce, Ina; Alrokh, Yara; Graham, Carina; Maeshima, Ruhina; Rognoni, Emanuel; Caley, Matthew; Łaczmański, Łukasz; Hart, Stephen L; McGrath, John A; Jacków-Malinowska, Joanna; - view fewer (2024) Lipid Nanoparticles Efficiently Deliver the Base Editor ABE8e for COL7A1 Correction in Dystrophic Epidermolysis Bullosa Fibroblasts In Vitro. Journal of Investigative Dermatology 10.1016/j.jid.2024.03.027. (In press).

Gustavsson, Emil K; Follett, Jordan; Trinh, Joanne; Barodia, Sandeep K; Real, Raquel; Liu, Zhiyong; Grant-Peters, Melissa; ... Farrer, Matthew J; + view all Gustavsson, Emil K; Follett, Jordan; Trinh, Joanne; Barodia, Sandeep K; Real, Raquel; Liu, Zhiyong; Grant-Peters, Melissa; Fox, Jesse D; Appel-Cresswell, Silke; Stoessl, A Jon; Rajput, Alex; Rajput, Ali H; Auer, Roland; Tilney, Russel; Sturm, Marc; Haack, Tobias B; Lesage, Suzanne; Tesson, Christelle; Brice, Alexis; Vilariño-Güell, Carles; Ryten, Mina; Goldberg, Matthew S; West, Andrew B; Hu, Michele T; Morris, Huw R; Sharma, Manu; Gan-Or, Ziv; Samanci, Bedia; Lis, Pawel; Periñan, Maria Teresa; Amouri, Rim; Ben Sassi, Samia; Hentati, Faycel; Global Parkinson's Genetics Program (GP2); Tonelli, Francesca; Alessi, Dario R; Farrer, Matthew J; - view fewer (2024) RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses. The Lancet Neurology 10.1016/S1474-4422(24)00121-2. (In press).

Hicks, Amy Rose Edith; (2024) Investigating the Role of the Non-Specific Lethal (NSL) Complex in Modifying Genes and Pathways Associated with Parkinson's Disease. Doctoral thesis (Ph.D), UCL (University College London).

Hirachan, R; Horman, A; Burke, D; Heales, S; (2024) Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spots. JIMD Reports , 65 (2) pp. 124-131. 10.1002/jmd2.12413.

Houzelstein, Denis; Eozenou, Caroline; Lagos, Carlos F; Elzaiat, Maëva; Bignon-Topalovic, Joelle; Gonzalez, Inma; Laville, Vincent; ... McElreavey, Ken; + view all Houzelstein, Denis; Eozenou, Caroline; Lagos, Carlos F; Elzaiat, Maëva; Bignon-Topalovic, Joelle; Gonzalez, Inma; Laville, Vincent; Schlick, Laurène; Wankanit, Somboon; Madon, Prochi; Kirtane, Jyotsna; Athalye, Arundhati; Buonocore, Federica; Bigou, Stéphanie; Conway, Gerard S; Bohl, Delphine; Achermann, John C; Bashamboo, Anu; McElreavey, Ken; - view fewer (2024) A conserved NR5A1-responsive enhancer regulates SRY in testis-determination. Nat Commun , 15 (1) , Article 2796. 10.1038/s41467-024-47162-2.

Hughes, Connor T; Dadhra, Jusvinder; Polubothu, Satyamaanasa; Kinsler, Veronica A; (2024) Vitamin D status in children with congenital melanocytic nevi. Pediatric Dermatology , 41 (1) pp. 58-60. 10.1111/pde.15462.

Hull, Alexander J; Atilano, Magda L; Hallqvist, Jenny; Heywood, Wendy; Kinghorn, Kerri J; (2024) Ceramide lowering rescues respiratory defects in a Drosophila model of acid sphingomyelinase deficiency. Human Molecular Genetics , 33 (24) pp. 2111-2122. 10.1093/hmg/ddae143.

Huuki-Myers, Louise A; Spangler, Abby; Eagles, Nicholas J; Montgomery, Kelsey D; Kwon, Sang Ho; Guo, Boyi; Grant-Peters, Melissa; ... PsychENCODE Consortium; + view all Huuki-Myers, Louise A; Spangler, Abby; Eagles, Nicholas J; Montgomery, Kelsey D; Kwon, Sang Ho; Guo, Boyi; Grant-Peters, Melissa; Divecha, Heena R; Tippani, Madhavi; Sriworarat, Chaichontat; Nguyen, Annie B; Ravichandran, Prashanthi; Tran, Matthew N; Seyedian, Arta; PsychENCODE Consortium†; Hyde, Thomas M; Kleinman, Joel E; Battle, Alexis; Page, Stephanie C; Ryten, Mina; Hicks, Stephanie C; Martinowich, Keri; Collado-Torres, Leonardo; Maynard, Kristen R; PsychENCODE Consortium; - view fewer (2024) A data-driven single-cell and spatial transcriptomic map of the human prefrontal cortex. Science , 384 (6698) , Article ARTN eadh1938. 10.1126/science.adh1938.

Illingworth, Christopher JR; Guerra-Assuncao, Jose A; Gregg, Samuel; Charles, Oscar; Pang, Juanita; Roy, Sunando; Abdelnabi, Rana; ... Breuer, Judith; + view all Illingworth, Christopher JR; Guerra-Assuncao, Jose A; Gregg, Samuel; Charles, Oscar; Pang, Juanita; Roy, Sunando; Abdelnabi, Rana; Neyts, Johan; Breuer, Judith; - view fewer (2024) Genetic consequences of effective and suboptimal dosing with mutagenic drugs in a hamster model of SARS-CoV-2 infection. Virus Evolution , 10 (1) , Article veae001. 10.1093/ve/veae001.

Jenkins, Dagan; (2024) How do stochastic processes and genetic threshold effects explain incomplete penetrance and inform causal disease mechanisms? Philosophical Transactions of the Royal Society B: Biological Sciences , 379 (1900) , Article 20230045. 10.1098/rstb.2023.0045.

Jenkins, Dagan; Chubb, Jonathan R; Galea, Gabriel; (2024) Stochastic processes in development and disease. Philosophical Transactions of the Royal Society B: Biological Sciences , 379 (1900) , Article 20230043. 10.1098/rstb.2023.0043.

Keshavan, N; Minczuk, M; Viscomi, C; Rahman, S; (2024) Gene therapy for mitochondrial disorders. Journal of Inherited Metabolic Disease , 47 (1) pp. 145-175. 10.1002/jimd.12699.

Khalil, Youssef; Footitt, Emma; Vootukuri, Reddy; Wempe, Michael F; Coughlin, Curtis R; Batzios, Spyros; Wilson, Matthew P; ... Mills, Philippa B; + view all Khalil, Youssef; Footitt, Emma; Vootukuri, Reddy; Wempe, Michael F; Coughlin, Curtis R; Batzios, Spyros; Wilson, Matthew P; Kožich, Viktor; Clayton, Peter T; Mills, Philippa B; - view fewer (2024) Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency. Journal of Inherited Metabolic Disease 10.1002/jimd.12783. (In press).

Knoepfel Capelinha, Nicole; (2024) Disease mechanisms in cutaneous vascular disorders. Doctoral thesis (Ph.D), UCL (University College London).

Lane, Dan; Allsopp, Rebecca; Holmes, Christopher W; Slingsby, Oliver C; Jukes-Jones, Rebekah; Bird, Paul; Anderson, N Leigh; ... Jones, Donald JL; + view all Lane, Dan; Allsopp, Rebecca; Holmes, Christopher W; Slingsby, Oliver C; Jukes-Jones, Rebekah; Bird, Paul; Anderson, N Leigh; Razavi, Morteza; Yip, Richard; Pearson, Terry W; Pope, Matt; Khunti, Kamlesh; Doykov, Ivan; Hällqvist, Jenny; Mills, Kevin; Skipp, Paul; Carling, Rachel; Ng, Leong; Shaw, Jacqui; Gupta, Pankaj; Jones, Donald JL; - view fewer (2024) A high throughput immuno-affinity mass spectrometry method for detection and quantitation of SARS-CoV-2 nucleoprotein in human saliva and its comparison with RT-PCR, RT-LAMP, and lateral flow rapid antigen test. Clinical Chemistry and Laboratory Medicine , 62 (6) pp. 1206-1216. 10.1515/cclm-2023-0243.

Luo, Huihui; Gustavsson, Emil K; Macpherson, Hannah; Dominik, Natalia; Zhelcheska, Kristina; Montgomery, Kylie; Anderson, Claire; ... Chen, Zhongbo; + view all Luo, Huihui; Gustavsson, Emil K; Macpherson, Hannah; Dominik, Natalia; Zhelcheska, Kristina; Montgomery, Kylie; Anderson, Claire; Yau, Wai Yan; Efthymiou, Stephanie; Turner, Chris; DeTure, Michael; Dickson, Dennis W; Josephs, Keith A; Revesz, Tamas; Lashley, Tammaryn; Halliday, Glenda; Rowe, Dominic B; McCann, Emily; Blair, Ian; Lees, Andrew J; Tienari, Pentti J; Suomalainen, Anu; Molina-Porcel, Laura; Kovacs, Gabor G; Gelpi, Ellen; Hardy, John; Haltia, Matti J; Tucci, Arianna; Jaunmuktane, Zane; Ryten, Mina; Houlden, Henry; Chen, Zhongbo; - view fewer (2024) Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022). Acta Neuropathol Commun , 12 (1) , Article 2. 10.1186/s40478-023-01706-7.

Mack, JA; Sovio, U; Day, FR; Gaccioli, F; Cook, E; Bayzid, N; Cotic, M; ... Smith, GCS; + view all Mack, JA; Sovio, U; Day, FR; Gaccioli, F; Cook, E; Bayzid, N; Cotic, M; Dunton, N; Madhan, G; Motsinger-Reif, A; Perry, JRB; Charnock-Jones, DS; Smith, GCS; - view fewer (2024) Genetic Variants Associated With Preeclampsia and Maternal Serum sFLT1 Levels. Hypertension 10.1161/HYPERTENSIONAHA.124.23400. (In press).

Maeshima, Ruhina; Jacobs, Amy I; Dalbay, Melis T; Hart, Stephen L; (2024) BMI1 Transduction of Human Airway Epithelial Cells for Expansion of Proliferation and Differentiation. In: Cilia. Methods in Molecular Biology. (pp. 225-237). Humana Press: New York, NY, USA.

Maeshima, Ruhina; Tagalakis, Aristides D; Gyftaki-Venieri, Dafni; Jones, Stuart A; Rye, Philip D; Tøndervik, Anne; Åstrand, O Alexander H; Maeshima, Ruhina; Tagalakis, Aristides D; Gyftaki-Venieri, Dafni; Jones, Stuart A; Rye, Philip D; Tøndervik, Anne; Åstrand, O Alexander H; Hart, Stephen L; - view fewer (2024) Low Molecular Weight Alginate Oligosaccharides as Alternatives to PEG for Enhancement of the Diffusion of Cationic Nanoparticles Through Cystic Fibrosis Mucus. Advanced Healthcare Materials , Article 2400510. 10.1002/adhm.202400510. (In press).

Matthews, E; Whittle, EF; Khan, F; McEntagart, M; Carroll, CJ; (2024) Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene. Journal of Human Genetics , 69 (6) pp. 283-285. 10.1038/s10038-024-01226-9.

McInnes-Dean, H; Mellis, R; Daniel, M; Walton, H; Baple, EL; Bertoli, M; Fisher, J; ... Peter, M; + view all McInnes-Dean, H; Mellis, R; Daniel, M; Walton, H; Baple, EL; Bertoli, M; Fisher, J; Gajewska-Knapik, K; Holder-Espinasse, M; Lafarge, C; Leeson-Beevers, K; McEwan, A; Pandya, P; Parker, M; Peet, S; Roberts, L; Sankaran, S; Smith, A; Tapon, D; Wu, WH; Wynn, SL; Chitty, LS; Hill, M; Peter, M; - view fewer (2024) ‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service. Prenatal Diagnosis 10.1002/pd.6537. (In press).

Motamed-Gorji, Nazgol; Khalil, Youssef; Gonzalez-Robles, Cristina; Khan, Shamsher; Mills, Philippa; Garcia-Moreno, Hector; Ging, Heather; ... Giunti, Paola; + view all Motamed-Gorji, Nazgol; Khalil, Youssef; Gonzalez-Robles, Cristina; Khan, Shamsher; Mills, Philippa; Garcia-Moreno, Hector; Ging, Heather; Tariq, Ambreen; Clayton, Peter T; Giunti, Paola; - view fewer (2024) Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann–Pick Type C. Antioxidants , 13 (5) , Article 561. 10.3390/antiox13050561.

Mukhopadhyay, Aakash G; Toropova, Katerina; Daly, Lydia; Wells, Jennifer N; Vuolo, Laura; Mladenov, Miroslav; Seda, Marian; ... Roberts, Anthony J; + view all Mukhopadhyay, Aakash G; Toropova, Katerina; Daly, Lydia; Wells, Jennifer N; Vuolo, Laura; Mladenov, Miroslav; Seda, Marian; Jenkins, Dagan; Stephens, David J; Roberts, Anthony J; - view fewer (2024) Structure and tethering mechanism of dynein-2 intermediate chains in intraflagellar transport. The EMBO Journal 10.1038/s44318-024-00060-1. (In press).

Nazmutdinova, Katia; Man, Cheuk Yan; Carter, Martyn; Beales, Philip L; Winyard, Paul JD; Walsh, Stephen B; Price, Karen L; Nazmutdinova, Katia; Man, Cheuk Yan; Carter, Martyn; Beales, Philip L; Winyard, Paul JD; Walsh, Stephen B; Price, Karen L; Long, David A; - view fewer (2024) Cell Catcher: A New Method to Extract and Preserve Live Renal Cells from Urine. Kidney360 , 5 (9) pp. 1359-1363. 10.34067/KID.0000000000000503.

Perocheau, Dany; Duff, Claire; Gurung, Sonam; Touramanidou, Loukia; Sharma, Garima; Baruteau, Julien; (2024) Optimized and Simplified Technique for the Production and Culture of Precision-Cut Liver Slices. Journal of Visualized Experiments (JoVE) , 213 , Article e67202. 10.3791/67202.

Polubothu, Satyamaanasa; Riachi, Melissa; Stadnik, Paulina; Ogunbiyi, Olumide; Braendli-Waelchli, Regula; Cullup, Thomas; Sebire, Neil J; ... Kinsler, Veronica A; + view all Polubothu, Satyamaanasa; Riachi, Melissa; Stadnik, Paulina; Ogunbiyi, Olumide; Braendli-Waelchli, Regula; Cullup, Thomas; Sebire, Neil J; Pittman, Alan; Kinsler, Veronica A; - view fewer (2024) Inflammatory linear verrucous epidermal nevus should be genotyped to direct treatment and genetic counseling. Journal of the American Academy of Dermatology 10.1016/j.jaad.2024.01.075. (In press).

Popa, Teodora; (2024) Investigating the relationship between chromosomal imbalance and human pre-implantation embryo development in vitro, using time-lapse imaging, artificial intelligence, and genomic data. Doctoral thesis (Ph.D), UCL (University College London).

Raidt, Johanna; Riepenhausen, Sarah; Pennekamp, Petra; Olbrich, Heike; Amirav, Israel; Athanazio, Rodrigo A; Aviram, Micha; ... Omran, Heymut; + view all Raidt, Johanna; Riepenhausen, Sarah; Pennekamp, Petra; Olbrich, Heike; Amirav, Israel; Athanazio, Rodrigo A; Aviram, Micha; Balinotti, Juan E; Bar-On, Ophir; Bode, Sebastian Fn; Boon, Mieke; Borrelli, Melissa; Carr, Siobhan B; Crowley, Suzanne; Dehlink, Eleonora; Diepenhorst, Sandra; Durdik, Peter; Dworniczak, Bernd; Emiralioğlu, Nagehan; Erdem, Ela; Fonnesu, Rossella; Gracci, Serena; Große-Onnebrink, Jörg; Gwozdziewicz, Karolina; Haarman, Eric G; Hansen, Christine R; Hogg, Claire; Holgersen, Mathias G; Kerem, Eitan; Körner, Robert W; Kötz, Karsten; Kouis, Panayiotis; Loebinger, Michael R; Lorent, Natalie; Lucas, Jane S; Maj, Debora; Mall, Marcus A; Marthin, June K; Martinu, Vendula; Mazurek, Henryk; Mitchison, Hannah M; Nöthe-Menchen, Tabea; Özçelik, Ugur; Pifferi, Massimo; Pogorzelski, Andrzej; Ringshausen, Felix C; Roehmel, Jobst F; Rovira-Amigo, Sandra; Rumman, Nisreen; Schlegtendal, Anne; Shoemark, Amelia; Sperstad Kennelly, Synne; Staar, Ben O; Sutharsan, Sivagurunathan; Thomas, Simon; Ullmann, Nicola; Varghese, Julian; von Hardenberg, Sandra; Walker, Woolf T; Wetzke, Martin; Witt, Michal; Yiallouros, Panayiotis; Zschocke, Anna; Ziętkiewicz, Ewa; Nielsen, Kim G; Omran, Heymut; - view fewer (2024) Analyses of 1,236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations. European Respiratory Journal , 64 (2) , Article 2301769. 10.1183/13993003.01769-2023.

Ren, Ziyu; (2024) Dynamic proteomics reveals the mitochondrial permeability transition pore can be formed by multiple proteins. Doctoral thesis (Ph.D), UCL (University College London).

Sagar, RL; Åström, E; Chitty, LS; Crowe, B; David, AL; Devile, C; Forsmark, A; ... Götherström, C; + view all Sagar, RL; Åström, E; Chitty, LS; Crowe, B; David, AL; Devile, C; Forsmark, A; Franzen, V; Hermeren, G; Hill, M; Johansson, M; Lindemans, C; Lindgren, P; Nijhuis, W; Oepkes, D; Rehberg, M; Sahlin, NE; Sakkers, R; Semler, O; Sundin, M; Walther-Jallow, L; Verweij, EJTJ; Westgren, M; Götherström, C; - view fewer (2024) An exploratory open-label multicentre phase I/II trial evaluating the safety and efficacy of postnatal or prenatal and postnatal administration of allogeneic expanded fetal mesenchymal stem cells for the treatment of severe osteogenesis imperfecta in infants and fetuses: The BOOSTB4 trial protocol. BMJ Open , 14 (6) , Article e079767. 10.1136/bmjopen-2023-079767.

Schulz, A; Specchio, N; de los Reyes, E; Gissen, P; Nickel, M; Trivisano, M; Aylward, SC; ... Cohen Pfeffer, J; + view all Schulz, A; Specchio, N; de los Reyes, E; Gissen, P; Nickel, M; Trivisano, M; Aylward, SC; Chakrapani, A; Schwering, C; Wibbeler, E; Westermann, LM; Ballon, DJ; Dyke, JP; Cherukuri, A; Bondade, S; Slasor, P; Cohen Pfeffer, J; - view fewer (2024) Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study. Lancet Neurology , 23 (1) pp. 60-70. 10.1016/S1474-4422(23)00384-8.

Selamioğlu, Arzu; Balcı, Mehmet Cihan; Karaca, Meryem; Khalil, Youssef; Hirachan, Rohit; Durmuş Tekçe, Hacer; Parman, Yeşim Gülşen; ... Gökçay, Gülden; + view all Selamioğlu, Arzu; Balcı, Mehmet Cihan; Karaca, Meryem; Khalil, Youssef; Hirachan, Rohit; Durmuş Tekçe, Hacer; Parman, Yeşim Gülşen; Gedikbaşı, Asuman; Demirkol, Mübeccel; Clayton, Peter; Gökçay, Gülden; - view fewer (2024) Variable clinical phenotypes of alpha-methylacyl-CoA racemase deficiency: Report of four cases and review of the literature. JIMD Reports 10.1002/jmd2.12437. (In press).

Song, Huiling; Li, Haosheng; Shen, Xiaonan; Liu, Kuai; Feng, Haoran; Cui, Jiahua; Wei, Wei; ... Du, Zixiu; + view all Song, Huiling; Li, Haosheng; Shen, Xiaonan; Liu, Kuai; Feng, Haoran; Cui, Jiahua; Wei, Wei; Sun, Xiaolu; Fan, Qiong; Bao, Wei; Zhou, Haiyan; Qian, Liheng; Nie, Huizhen; Cheng, Xi; Du, Zixiu; - view fewer (2024) A pH-responsive cetuximab-conjugated DMAKO-20 nano-delivery system for overcoming K-ras mutations and drug resistance in colorectal carcinoma. Acta Biomaterialia , 177 pp. 456-471. 10.1016/j.actbio.2024.01.047.

Spaull, Robert; Soo, Audrey K; Batzios, Spyros; Footitt, Emma; Whiteley, Rebecca; Mink, Jonathan W; Carr, Lucinda; ... Kurian, Manju A; + view all Spaull, Robert; Soo, Audrey K; Batzios, Spyros; Footitt, Emma; Whiteley, Rebecca; Mink, Jonathan W; Carr, Lucinda; Gissen, Paul; Kurian, Manju A; - view fewer (2024) Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy. Neurology , 103 (3) , Article e209615. 10.1212/WNL.0000000000209615.

Thöny, B; Ng, J; Kurian, MA; Mills, P; Martinez, A; (2024) Mouse models for inherited monoamine neurotransmitter disorders. Journal of Inherited Metabolic Disease 10.1002/jimd.12710. (In press).

Touramanidou, Loukia; Gurung, Sonam; Cozmescu, Claudiu A; Perocheau, Dany; Moulding, Dale; Finn, Patrick F; Frassetto, Andrea; ... Baruteau, Julien; + view all Touramanidou, Loukia; Gurung, Sonam; Cozmescu, Claudiu A; Perocheau, Dany; Moulding, Dale; Finn, Patrick F; Frassetto, Andrea; Waddington, Simon N; Gissen, Paul; Baruteau, Julien; - view fewer (2024) Macrophage Inhibitor Clodronate Enhances Liver Transduction of Lentiviral but Not Adeno-Associated Viral Vectors or mRNA Lipid Nanoparticles in Neonatal and Juvenile Mice. Cells , 13 (23) , Article 1979. 10.3390/cells13231979.

Valentino, Rebecca R; Scotton, William J; Roemer, Shanu F; Lashley, Tammaryn; Heckman, Michael G; Shoai, Maryam; Martinez-Carrasco, Alejandro; ... Wszolek, Zbigniew K; + view all Valentino, Rebecca R; Scotton, William J; Roemer, Shanu F; Lashley, Tammaryn; Heckman, Michael G; Shoai, Maryam; Martinez-Carrasco, Alejandro; Tamvaka, Nicole; Walton, Ronald L; Baker, Matthew C; Macpherson, Hannah L; Real, Raquel; Soto-Beasley, Alexandra I; Mok, Kin; Revesz, Tamas; Christopher, Elizabeth A; DeTure, Michael; Seeley, William W; Lee, Edward B; Frosch, Matthew P; Molina-Porcel, Laura; Gefen, Tamar; Redding-Ochoa, Javier; Ghetti, Bernardino; Robinson, Andrew C; Kobylecki, Christopher; Rowe, James B; Beach, Thomas G; Teich, Andrew F; Keith, Julia L; Bodi, Istvan; Halliday, Glenda M; Gearing, Marla; Arzberger, Thomas; Morris, Christopher M; White, Charles L; Mechawar, Naguib; Boluda, Susana; MacKenzie, Ian R; McLean, Catriona; Cykowski, Matthew D; Wang, Shih-Hsiu J; Graff, Caroline; Nagra, Rashed M; Kovacs, Gabor G; Giaccone, Giorgio; Neumann, Manuela; Ang, Lee-Cyn; Carvalho, Agostinho; Morris, Huw R; Rademakers, Rosa; Hardy, John A; Dickson, Dennis W; Rohrer, Jonathan D; Ross, Owen A; Warner, Thomas T; Jaunmuktane, Zane; Boeve, Bradley F; Duara, Ranjan; Graff-Radford, Neill R; Josephs, Keith A; Knopman, David S; Koga, Shunsuke; Murray, Melissa E; Lyons, Kelly E; Pahwa, Rajesh; Petersen, Ronald C; Whitwell, Jennifer L; Grinberg, Lea T; Miller, Bruce; Schlereth, Athena; Spina, Salvatore; Grossman, Murray; Irwin, David J; Suh, EunRan; Trojanowski, John Q; Van Deerlin, Vivianna M; Wolk, David A; Connors, Theresa R; Dooley, Patrick M; Oakley, Derek H; Aldecoa, Iban; Balasa, Mircea; Gelpi, Ellen; Borrego-Écija, Sergi; Gascon-Bayarri, Jordi; Sánchez-Valle, Raquel; Sanz-Cartagena, Pilar; Piñol-Ripoll, Gerard; Bigio, Eileen H; Flanagan, Margaret E; Rogalski, Emily J; Weintraub, Sandra; Schneider, Julie A; Peng, Lihua; Zhu, Xiongwei; Chang, Koping; Troncoso, Juan C; Prokop, Stefan; Newell, Kathy L; Jones, Matthew; Richardson, Anna; Roncaroli, Federico; Snowden, Julie; Allinson, Kieren; Singh, Poonam; Serrano, Geidy E; Flowers, Xena E; Goldman, James E; Heaps, Allison C; Leskinen, Sandra P; Black, Sandra E; Masellis, Mario; King, Andrew; Al-Sarraj, Safa; Troakes, Claire; Hodges, John R; Kril, Jillian J; Kwok, John B; Piguet, Olivier; Roeber, Sigrun; Attems, Johannes; Thomas, Alan J; Evers, Bret M; Bieniek, Kevin F; Sieben, Anne A; Cras, Patrick P; De Vil, Bart B; Bird, Thomas; Castellani, Rudolph J; Chaffee, Ann; Franklin, Erin; Haroutunian, Vahram; Jacobsen, Max; Keene, Dirk; Latimer, Caitlin S; Metcalf, Jeff; Perrin, Richard J; Purohit, Dushyant P; Rissman, Robert A; Schantz, Aimee; Walker, Jamie; De Deyn, Peter P; Duyckaerts, Charles; Le Ber, Isabelle; Seilhean, Danielle; Turbant-Leclere, Sabrina; Ervin, John F; Nennesmo, Inger; Riehl, James; Nacmias, Benedetta; Finger, Elizabeth C; Blauwendraat, Cornelis; Nalls, Mike A; Singleton, Andrew B; Vitale, Dan; Cunha, Cristina; Wszolek, Zbigniew K; - view fewer (2024) MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study. The Lancet Neurology , 23 (5) pp. 487-499. 10.1016/s1474-4422(24)00083-8.

Venturini, Cristina; Colston, Julia M; Charles, Oscar; Lankina, Anastasia; Best, Timothy; Atkinson, Claire; Forrest, Calum; ... Breuer, Judith; + view all Venturini, Cristina; Colston, Julia M; Charles, Oscar; Lankina, Anastasia; Best, Timothy; Atkinson, Claire; Forrest, Calum; Williams, Charlotte A; Rao, Kanchan; Worth, Austen; Thorburn, Doug; Harber, Mark; Griffiths, Paul; Breuer, Judith; - view fewer (2024) Persistent Low-Level Variants in a Subset of Viral Genes Are Highly Predictive of Poor Outcome in Immunocompromised Patients With Cytomegalovirus Infection. The Journal of Infectious Diseases 10.1093/infdis/jiae001. (In press).

Vilà-González, Marta; Pinte, Laetitia; Fradique, Ricardo; Causa, Erika; Kool, Heleen; Rodrat, Mayuree; Morell, Carola Maria; ... Vallier, Ludovic; + view all Vilà-González, Marta; Pinte, Laetitia; Fradique, Ricardo; Causa, Erika; Kool, Heleen; Rodrat, Mayuree; Morell, Carola Maria; Al-Thani, Maha; Porter, Linsey; Guo, Wenrui; Maeshima, Ruhina; Hart, Stephen L; McCaughan, Frank; Granata, Alessandra; Sheppard, David N; Floto, R Andres; Rawlins, Emma L; Cicuta, Pietro; Vallier, Ludovic; - view fewer (2024) In vitro platform to model the function of ionocytes in the human airway epithelium. Respiratory Research , 25 (1) , Article 180. 10.1186/s12931-024-02800-7.

Woodall, Maximillian NJ; Cujba, Ana-Maria; Worlock, Kaylee B; Case, Katie-Marie; Masonou, Tereza; Yoshida, Masahiro; Polanski, Krzysztof; ... Smith, Claire M; + view all Woodall, Maximillian NJ; Cujba, Ana-Maria; Worlock, Kaylee B; Case, Katie-Marie; Masonou, Tereza; Yoshida, Masahiro; Polanski, Krzysztof; Huang, Ni; Lindeboom, Rik GH; Mamanova, Lira; Bolt, Liam; Richardson, Laura; Cakir, Batuhan; Ellis, Samuel; Palor, Machaela; Burgoyne, Thomas; Pinto, Andreia; Moulding, Dale; Mchugh, Timothy D; Saleh, Aarash; Kilich, Eliz; Mehta, Puja; O'Callaghan, Chris; Zhou, Jie; Barclay, Wendy; De Coppi, Paolo; Butler, Colin R; Cortina-Borja, Mario; Vinette, Heloise; Roy, Sunando; Breuer, Judith; Chambers, Rachel C; Heywood, Wendy E; Mills, Kevin; Hynds, Robert E; Teichmann, Sarah A; Meyer, Kerstin B; Nikolic, Marko Z; Smith, Claire M; - view fewer (2024) Author Correction: Age-specific nasal epithelial responses to SARS-CoV-2 infection. Nature Microbiology , 9 (11) , Article 3076. 10.1038/s41564-024-01757-z.

Zhang, Hao-Yu; Minnis, Christopher; Gustavsson, Emil; Ryten, Mina; Mole, Sara E; (2024) CLN3 transcript complexity revealed by long-read RNA sequencing analysis. BMC Medical Genomics , 17 , Article 244. 10.1186/s12920-024-02017-z.

2023

Aung, Yuri; Kokotsis, Vasilis; Yin, Kyla Ng; Banerjee, Kausik; Butler, Gary; Dattani, Mehul T; Dimitri, Paul; ... Howard, Sasha R; + view all Aung, Yuri; Kokotsis, Vasilis; Yin, Kyla Ng; Banerjee, Kausik; Butler, Gary; Dattani, Mehul T; Dimitri, Paul; Dunkel, Leo; Hughes, Claire; McGuigan, Michael; Korbonits, Marta; Paltoglou, George; Sakka, Sophia; Shah, Pratik; Storr, Helen L; Willemsen, Ruben H; Howard, Sasha R; - view fewer (2023) Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism. Frontiers in Endocrinology , 14 , Article 1226839. 10.3389/fendo.2023.1226839.

Backeljauw, Philippe F; Andrews, Mary; Bang, Peter; Dalle Molle, Leo; Deal, Cheri L; Harvey, Jamie; Langham, Shirley; ... Dattani, Mehul T; + view all Backeljauw, Philippe F; Andrews, Mary; Bang, Peter; Dalle Molle, Leo; Deal, Cheri L; Harvey, Jamie; Langham, Shirley; Petriczko, Elżbieta; Polak, Michel; Storr, Helen L; Dattani, Mehul T; - view fewer (2023) Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective. Orphanet Journal of Rare Diseases , 18 , Article 312. 10.1186/s13023-023-02928-7.

Bakey, Zeineb; Cabrera, Oscar A; Hoefele, Julia; Antony, Dinu; Wu, Kaman; Stuck, Michael W; Micha, Dimitra; ... Pazour, Gregory J; + view all Bakey, Zeineb; Cabrera, Oscar A; Hoefele, Julia; Antony, Dinu; Wu, Kaman; Stuck, Michael W; Micha, Dimitra; Eguether, Thibaut; Smith, Abigail O; van der Wel, Nicole N; Wagner, Matias; Strittmatter, Lara; Beales, Philip L; Jonassen, Julie A; Thiffault, Isabelle; Cadieux-Dion, Maxime; Boyes, Laura; Sharif, Saba; Tüysüz, Beyhan; Dunstheimer, Desiree; Niessen, Hans WM; Devine, William; Lo, Cecilia W; Mitchison, Hannah M; Schmidts, Miriam; Pazour, Gregory J; - view fewer (2023) IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans. PLoS Genetics , 19 (6) , Article e1010796. 10.1371/journal.pgen.1010796. (In press).

Bea-Mascato, Brais; Gómez-Castañeda, Eduardo; Sánchez-Corrales, Yara E; Castellano, Sergi; Valverde, Diana; (2023) Loss of the centrosomal protein ALMS1 alters lipid metabolism and the regulation of extracellular matrix-related processes. Biology Direct , 18 (1) , Article 84. 10.1186/s13062-023-00441-2.

Billingsley, KJ; Ding, J; Jerez, PA; Illarionova, A; Levine, K; Grenn, FP; Makarious, MB; ... Singleton, AB; + view all Billingsley, KJ; Ding, J; Jerez, PA; Illarionova, A; Levine, K; Grenn, FP; Makarious, MB; Moore, A; Vitale, D; Reed, X; Hernandez, D; Torkamani, A; Ryten, M; Hardy, J; Chia, R; Scholz, SW; Traynor, BJ; Dalgard, CL; Ehrlich, DJ; Tanaka, T; Ferrucci, L; Beach, TG; Serrano, GE; Quinn, JP; Bubb, VJ; Collins, RL; Zhao, X; Walker, M; Pierce-Hoffman, E; Brand, H; Talkowski, ME; Casey, B; Cookson, MR; Markham, A; Nalls, MA; Mahmoud, M; Sedlazeck, FJ; Blauwendraat, C; Gibbs, JR; Singleton, AB; - view fewer (2023) Genome-Wide Analysis of Structural Variants in Parkinson Disease. Annals of Neurology 10.1002/ana.26608. (In press).

Brenton, Jonathan; (2023) Novel Brain Networks Influenced by Ageing: Effects on Gene Expression and Synapses of Diet-Induced Obesity. Doctoral thesis (Ph.D), UCL (University College London).

Brettell, Elizabeth; Högler, Wolfgang; Woolley, Rebecca; Cummins, Carole; Mathers, Jonathan; Oppong, Raymond; Roy, Laura; ... GHD study group; + view all Brettell, Elizabeth; Högler, Wolfgang; Woolley, Rebecca; Cummins, Carole; Mathers, Jonathan; Oppong, Raymond; Roy, Laura; Khan, Adam; Hunt, Charmaine; Dattani, Mehul; GHD study group; - view fewer (2023) The Growth Hormone Deficiency (GHD) Reversal Trial: effect on final height of discontinuation versus continuation of growth hormone treatment in pubertal children with isolated GHD—a non-inferiority Randomised Controlled Trial (RCT). Trials , 24 , Article 548. 10.1186/s13063-023-07562-z.

Bulut, Fatma Derya; Kor, Deniz; Kılavuz, Sebile; Şeker Yılmaz, Berna; Kaplan, İrem; Ekinci, Faruk; Burgaç, Ezgi; ... Önenli Mungan, Neslihan; + view all Bulut, Fatma Derya; Kor, Deniz; Kılavuz, Sebile; Şeker Yılmaz, Berna; Kaplan, İrem; Ekinci, Faruk; Burgaç, Ezgi; Varol, İlknur; Köşeci, Burcu; Tuğ Bozdoğan, Sevcan; Kara, Esra; Demir, Fadli; Deniz, Ali; Temiz, Fatih; Önenli Mungan, Neslihan; - view fewer (2023) Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis. European Journal of Medical Genetics , 66 (6) , Article 104764. 10.1016/j.ejmg.2023.104764.

Carroll, Melissa S; Giacca, Mauro; (2023) CRISPR activation and interference as investigative tools in the cardiovascular system. The International Journal of Biochemistry & Cell Biology , 155 , Article 106348. 10.1016/j.biocel.2022.106348.

Chen, Zhongbo; Tucci, Arianna; Cipriani, Valentina; Gustavsson, Emil K; Ibañez, Kristina; Reynolds, Regina H; Zhang, David; ... Ryten, Mina; + view all Chen, Zhongbo; Tucci, Arianna; Cipriani, Valentina; Gustavsson, Emil K; Ibañez, Kristina; Reynolds, Regina H; Zhang, David; Vestito, Letizia; Cisterna García, Alejandro; Sethi, Siddharth; Brenton, Jonathan W; García-Ruiz, Sonia; Fairbrother-Browne, Aine; Gil-Martinez, Ana-Luisa; Genomics England Research Consortium Nick Wood, .; Hardy, John A; Smedley, Damian; Houlden, Henry; Botía, Juan; Ryten, Mina; - view fewer (2023) Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia. Brain , 146 , Article awad009. 10.1093/brain/awad009.

Cozmescu, Andrei Claudiu; (2023) Liver directed lentiviral gene therapy for ARC syndrome. Doctoral thesis (Ph.D), UCL (University College London).

Cunningham, Sharon C; van Dijk, Eva B; Zhu, Erhua; Sugden, Maya; Mandwie, Mawj; Siew, Susan; Devanapalli, Beena; ... Alexander, Ian E; + view all Cunningham, Sharon C; van Dijk, Eva B; Zhu, Erhua; Sugden, Maya; Mandwie, Mawj; Siew, Susan; Devanapalli, Beena; Tolun, Adviye Ayper; Klein, Anne; Wilson, Laurence; Aryamanesh, Nader; Gissen, Paul; Baruteau, Julien; Bhattacharya, Kaustuv; Alexander, Ian E; - view fewer (2023) Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies. Human Gene Therapy , 34 (17-18) pp. 917-926. 10.1089/hum.2023.011.

D'Sa, Karishma; Guelfi, Sebastian; Vandrovcova, Jana; Reynolds, Regina H; Zhang, David; Hardy, John; Botía, Juan A; ... Ryten, Mina; + view all D'Sa, Karishma; Guelfi, Sebastian; Vandrovcova, Jana; Reynolds, Regina H; Zhang, David; Hardy, John; Botía, Juan A; Weale, Michael E; Taliun, Sarah A Gagliano; Small, Kerrin S; Ryten, Mina; - view fewer (2023) Analysis of subcellular RNA fractions demonstrates significant genetic regulation of gene expression in human brain post-transcriptionally. Scientific Reports , 13 (1) , Article 13874. 10.1038/s41598-023-40324-0.

Del Valle, Ignacio; Young, Matthew D; Kildisiute, Gerda; Ogunbiyi, Olumide K; Buonocore, Federica; Simcock, Ian C; Khabirova, Eleonora; ... Achermann, John C; + view all Del Valle, Ignacio; Young, Matthew D; Kildisiute, Gerda; Ogunbiyi, Olumide K; Buonocore, Federica; Simcock, Ian C; Khabirova, Eleonora; Crespo, Berta; Moreno, Nadjeda; Brooks, Tony; Niola, Paola; Swarbrick, Katherine; Suntharalingham, Jenifer P; McGlacken-Byrne, Sinead M; Arthurs, Owen J; Behjati, Sam; Achermann, John C; - view fewer (2023) An integrated single-cell analysis of human adrenal cortex development. JCI Insight , 8 (14) , Article e168177. 10.1172/jci.insight.168177.

Di Stasi, M; Mankad, K; Carney, O; Loebel, U; Biswas, A; Sudhakar, S; Kinsler, V; Di Stasi, M; Mankad, K; Carney, O; Loebel, U; Biswas, A; Sudhakar, S; Kinsler, V; D’Arco, F; - view fewer (2023) Congenital melanocytic naevus syndrome and Dandy-Walker malformation — a mistaken association: case report and literature review. Neuroradiology , 65 (6) pp. 1077-1086. 10.1007/s00234-023-03150-9.

Duff, Claire; Alexander, Ian E; Baruteau, Julien; (2023) Gene therapy for Urea Cycle Defects: an update from historical perspectives to future prospects. Journal of Inherited Metabolic Disease 10.1002/jimd.12609. (In press).

Elkhateeb, Nour; Olivieri, Giorgia; Siri, Barbara; Boyd, Stewart; Stepien, Karolina M; Sharma, Reena; Morris, Andrew AM; ... Baruteau, Julien; + view all Elkhateeb, Nour; Olivieri, Giorgia; Siri, Barbara; Boyd, Stewart; Stepien, Karolina M; Sharma, Reena; Morris, Andrew AM; Hartley, Thomas; Crowther, Laura; Grunewald, Stephanie; Cleary, Maureen; Mundy, Helen; Chakrapani, Anupam; Lachmann, Robin; Murphy, Elaine; Santra, Saikat; Uudelepp, Mari-Liis; Yeo, Mildrid; Bernhardt, Isaac; Sudakhar, Sniya; Chan, Alicia; Mills, Philippa; Ridout, Debora; Gissen, Paul; Dionisi-Vici, Carlo; Baruteau, Julien; - view fewer (2023) Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study. Epilepsia 10.1111/epi.17596. (In press).

Fairbrother-Browne, Aine; García-Ruiz, Sonia; Hertfelder Reynolds, Regina; Ryten, Mina; Hodgkinson, Alan; (2023) ensemblQueryR: fast, flexible and high-throughput querying of Ensembl LD API endpoints in R. GigaByte , 2023 pp. 1-10. 10.46471/gigabyte.91.

Fassad, Mahmoud R; Rumman, Nisreen; Junger, Katrin; Patel, Mitali P; Thompson, James; Goggin, Patricia; Ueffing, Marius; ... Mitchison, Hannah M; + view all Fassad, Mahmoud R; Rumman, Nisreen; Junger, Katrin; Patel, Mitali P; Thompson, James; Goggin, Patricia; Ueffing, Marius; Beyer, Tina; Boldt, Karsten; Lucas, Jane S; Mitchison, Hannah M; - view fewer (2023) Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations. Human Molecular Genetics , Article ddad132. 10.1093/hmg/ddad132. (In press).

Forsythe, E; Haws, RM; Argente, J; Beales, P; Martos-Moreno, G; Dollfus, H; Chirila, C; ... Haqq, AM; + view all Forsythe, E; Haws, RM; Argente, J; Beales, P; Martos-Moreno, G; Dollfus, H; Chirila, C; Gnanasakthy, A; Buckley, BC; Mallya, UG; Clément, K; Haqq, AM; - view fewer (2023) Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results. Orphanet Journal of Rare Diseases , 18 (1) , Article 12. 10.1186/s13023-022-02602-4.

Fozzato, Arianna; New, Lauryn E; Griffiths, Joanne C; Patel, Bianca; Deuchars, Susan A; Filippi, Beatrice M; (2023) Manipulating mitochondrial dynamics in the NTS prevents diet-induced deficits in brown fat morphology and glucose uptake. Life Sciences , 328 , Article 121922. 10.1016/j.lfs.2023.121922.

Freke, Grace Mercedes; Martins, Tiago; Davies, Rosalind Jane; Beyer, Tina; Seda, Marian; Peskett, Emma; Haq, Naila; ... Jenkins, Dagan; + view all Freke, Grace Mercedes; Martins, Tiago; Davies, Rosalind Jane; Beyer, Tina; Seda, Marian; Peskett, Emma; Haq, Naila; Prasai, Avishek; Otto, Georg; Jeyabalan Srikaran, Jeshmi; Hernandez, Victor; Diwan, Gaurav D; Russell, Robert B; Ueffing, Marius; Huranova, Martina; Boldt, Karsten; Beales, Philip L; Jenkins, Dagan; - view fewer (2023) De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1. Cells , 12 (22) , Article 2662. 10.3390/cells12222662.

Fulop, NJ; Capelas Barbosa, E; Hill, M; Ledger, J; Li Ng, P; Sherlaw-Johnson, C; Rolewicz, L; ... Morris, S; + view all Fulop, NJ; Capelas Barbosa, E; Hill, M; Ledger, J; Li Ng, P; Sherlaw-Johnson, C; Rolewicz, L; Schlepper, L; Spencer, J; Tomini, SM; Vindrola-Padros, C; Morris, S; - view fewer (2023) Rapid evaluation of the Special Measures for Quality and challenged provider regimes: a mixed-methods study. Health and Social Care Delivery Research , 11 (19) pp. 1-139. 10.3310/GQQV3512.

Gan, Hoong-Wei; Morillon, Paul; Albanese, Assunta; Aquilina, Kristian; Chandler, Chris; Chang, Yen-Ching; Drimtzias, Evangelos; ... Spoudeas, Helen Alexandra; + view all Gan, Hoong-Wei; Morillon, Paul; Albanese, Assunta; Aquilina, Kristian; Chandler, Chris; Chang, Yen-Ching; Drimtzias, Evangelos; Farndon, Sarah; Jacques, Thomas S; Korbonits, Márta; Kuczynski, Adam; Limond, Jennifer; Robinson, Louise; Simmons, Ian; Thomas, Nick; Thomas, Sophie; Thorp, Nicola; Vargha-Khadem, Faraneh; Warren, Daniel; Zebian, Bassel; Mallucci, Conor; Spoudeas, Helen Alexandra; - view fewer (2023) National UK guidelines for the management of paediatric craniopharyngioma. The Lancet Diabetes & Endocrinology , 11 (9) pp. 694-706. 10.1016/S2213-8587(23)00162-6.

Gan, HW; Leeson, C; Aitkenhead, H; Dattani, M; (2023) Inaccuracies in plasma oxytocin extraction and enzyme immunoassay techniques. Comprehensive Psychoneuroendocrinology , 15 , Article 100188. 10.1016/j.cpnec.2023.100188.

García Ruiz, Sonia; (2023) Assessing splicing accuracy and its determinants across human tissues using RNA-sequencing. Doctoral thesis (Ph.D), UCL (University College London).

García-Ruiz, Sonia; Reynolds, Regina Hertfelder; Grant-Peters, Melissa; Gustavsson, Emil Karl; Fairbrother-Browne, Aine; Chen, Zhongbo; Brenton, Jonathan William; García-Ruiz, Sonia; Reynolds, Regina Hertfelder; Grant-Peters, Melissa; Gustavsson, Emil Karl; Fairbrother-Browne, Aine; Chen, Zhongbo; Brenton, Jonathan William; Ryten, Mina; - view fewer (2023) aws-s3-integrity-check: an open-source bash tool to verify the integrity of a dataset stored on Amazon S3. GigaByte , 2023 , Article gigabyte87. 10.46471/gigabyte.87.

Gil, E; Roy, S; Best, T; Hatcher, J; Breuer, J; (2023) Increasing rhinovirus prevalence in paediatric intensive care patients since the SARS-CoV2 pandemic. Journal of Clinical Virology , 166 , Article 105555. 10.1016/j.jcv.2023.105555.

Gregory, Louise C; Cionna, Cecilia; Cerbone, Manuela; GOSgene; Dattani, Mehul T; (2023) Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders. Genetics in Medicine , 25 (9) , Article 100881. 10.1016/j.gim.2023.100881.

Guo, Boyi; Huuki-Myers, Louise A; Grant-Peters, Melissa; Collado-Torres, Leonardo; Hicks, Stephanie C; (2023) escheR: unified multi-dimensional visualizations with Gestalt principles. Bioinformatics Advances , 3 (1) , Article vbad179. 10.1093/bioadv/vbad179.

Guri-Lamce, Ina; AlRokh, Yara; Kim, Youngah; Maeshima, Ruhina; Graham, Carina; Hart, Stephen L; McGrath, John A; Guri-Lamce, Ina; AlRokh, Yara; Kim, Youngah; Maeshima, Ruhina; Graham, Carina; Hart, Stephen L; McGrath, John A; Jackow-Malinowska, Joanna; - view fewer (2023) Topical gene editing therapeutics using lipid nanoparticles: 'gene creams' for genetic skin diseases? British Journal of Dermatology 10.1093/bjd/ljad528. (In press).

Gurung, Sonam; Karamched, Saketh; Perocheau, Dany; Seunarine, Kiran K; Baldwin, Tom; Al-Rashidi, Haya; Touramanidou, Loukia; ... Baruteau, Julien; + view all Gurung, Sonam; Karamched, Saketh; Perocheau, Dany; Seunarine, Kiran K; Baldwin, Tom; Al-Rashidi, Haya; Touramanidou, Loukia; Duff, Claire; Elkhateeb, Nour; Stepien, Karolina M; Sharma, Reena; Morris, Andrew; Hartley, Thomas; Crowther, Laura; Grunewald, Stephanie; Cleary, Maureen; Mundy, Helen; Chakrapani, Anupam; Batzios, Spyros; Davison, James; Footitt, Emma; Tuschl, Karin; Lachmann, Robin; Murphy, Elaine; Santra, Saikat; Uudelepp, Mari-Liis; Yeo, Mildrid; Finn, Patrick F; Cavedon, Alex; Siddiqui, Summar; Rice, Lisa; Martini, Paolo GV; Frassetto, Andrea; Heales, Simon; Mills, Philippa B; Gissen, Paul; Clayden, Jonathan D; Clark, Christopher A; Eaton, Simon; Kalber, Tammy L; Baruteau, Julien; - view fewer (2023) The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria. Journal of Inherited Metabolic Disease 10.1002/jimd.12691. (In press).

Hällqvist, Jenny; Pinto, Rui C; Heywood, Wendy E; Cordey, Jonjo; Foulkes, Alexander JM; Slattery, Catherine F; Leckey, Claire A; ... Paterson, Ross W; + view all Hällqvist, Jenny; Pinto, Rui C; Heywood, Wendy E; Cordey, Jonjo; Foulkes, Alexander JM; Slattery, Catherine F; Leckey, Claire A; Murphy, Eimear C; Zetterberg, Henrik; Schott, Jonathan M; Mills, Kevin; Paterson, Ross W; - view fewer (2023) A Multiplexed Urinary Biomarker Panel Has Potential for Alzheimer’s Disease Diagnosis Using Targeted Proteomics and Machine Learning. International Journal of Molecular Sciences , 24 (18) , Article 13758. 10.3390/ijms241813758.

Hartley, P; Bonaldi, A; Braun, R; Aditya, JNHS; Aicardi, S; Alegre, L; Chakraborty, A; ... Zuo, S; + view all Hartley, P; Bonaldi, A; Braun, R; Aditya, JNHS; Aicardi, S; Alegre, L; Chakraborty, A; Chen, X; Choudhuri, S; Clarke, AO; Coles, J; Collinson, JS; Cornu, D; Darriba, L; Veneri, M Delli; Forbrich, J; Fraga, B; Galan, A; Garrido, J; Gubanov, F; Hakansson, H; Hardcastle, MJ; Heneka, C; Herranz, D; Hess, KM; Jagannath, M; Jaiswal, S; Jurek, RJ; Korber, D; Kitaeff, S; Kleiner, D; Lao, B; Lu, X; Mazumder, A; Moldon, J; Mondal, R; Ni, S; Onnheim, M; Parra, M; Patra, N; Peel, A; Salome, P; Sanchez-Exposito, S; Sargent, M; Semelin, B; Serra, P; Shaw, AK; Shen, AX; Sjoberg, A; Smith, L; Soroka, A; Stolyarov, V; Tolley, E; Toribio, MC; van der Hulst, JM; Sadr, A Vafaei; Verdes-Montenegro, L; Westmeier, T; Yu, K; Yu, L; Zhang, L; Zhang, X; Zhang, Y; Alberdi, A; Ashdown, M; Bom, CR; Brueggen, M; Cannon, J; Chen, R; Combes, F; Conway, J; Courbin, F; Ding, J; Fourestey, G; Freundlich, J; Gao, L; Gheller, C; Guo, Q; Gustavsson, E; Jirstrand, M; Jones, MG; Jozsa, G; Kamphuis, P; Kneib, J-P; Lindqvist, M; Liu, B; Liu, Y; Mao, Y; Marchal, A; Marquez, I; Meshcheryakov, A; Olberg, M; Oozeer, N; Pandey-Pommier, M; Pei, W; Peng, B; Sabater, J; Sorgho, A; Starck, JL; Tasse, C; Wang, A; Wang, Y; Xi, H; Yang, X; Zhang, H; Zhang, J; Zhao, M; Zuo, S; - view fewer (2023) SKA Science Data Challenge 2: analysis and results. Monthly Notices of the Royal Astronomical Society , 523 (2) pp. 1967-1993. 10.1093/mnras/stad1375.

Hicks, Amy R; Reynolds, Regina H; O'Callaghan, Ben; Garcia Ruiz, Sonia; Gil Martinez, Ana Luisa; Botia, Juan; Plun-Favreau, Helene; Hicks, Amy R; Reynolds, Regina H; O'Callaghan, Ben; Garcia Ruiz, Sonia; Gil Martinez, Ana Luisa; Botia, Juan; Plun-Favreau, Helene; Ryten, Mina; - view fewer (2023) The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson’s disease. Brain , Article awad246. 10.1093/brain/awad246. (In press).

Hunter, A; Lewis, C; Hill, M; Chitty, LS; Leeson-Beevers, K; McInnes-Dean, H; Harvey, K; ... Thomson, K; + view all Hunter, A; Lewis, C; Hill, M; Chitty, LS; Leeson-Beevers, K; McInnes-Dean, H; Harvey, K; Pichini, A; Ormondroyd, E; Thomson, K; - view fewer (2023) Public and patient involvement in research to support genome services development in the UK. Journal of Translational Genetics and Genomics , 7 pp. 17-26. 10.20517/jtgg.2022.19.

Ibrahim, Majitha Seyed; Gold, Jessica I; Woodall, Alison; Yilmaz, Berna Seker; Gissen, Paul; Stepien, Karolina M; (2023) Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency. Children , 10 (8) , Article 1368. 10.3390/children10081368.

Kantaputra, Piranit; Dejkhamron, Prapai; Sittiwangkul, Rekwan; Katanyuwong, Kamornwan; Ngamphiw, Chumpol; Sonsuwan, Nuntigar; Intachai, Worrachet; ... Buranaphatthana, Worakanya; + view all Kantaputra, Piranit; Dejkhamron, Prapai; Sittiwangkul, Rekwan; Katanyuwong, Kamornwan; Ngamphiw, Chumpol; Sonsuwan, Nuntigar; Intachai, Worrachet; Tongsima, Sissades; Beales, Philip L; Buranaphatthana, Worakanya; - view fewer (2023) Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations. Genes , 14 (1) , Article 84. 10.3390/genes14010084.

Kerimov, Nurlan; Tambets, Ralf; Hayhurst, James D; Rahu, Ida; Kolberg, Peep; Raudvere, Uku; Kuzmin, Ivan; ... Alasoo, Kaur; + view all Kerimov, Nurlan; Tambets, Ralf; Hayhurst, James D; Rahu, Ida; Kolberg, Peep; Raudvere, Uku; Kuzmin, Ivan; Chowdhary, Anshika; Vija, Andreas; Teras, Hans J; Kanai, Masahiro; Ulirsch, Jacob; Ryten, Mina; Hardy, John; Guelfi, Sebastian; Trabzuni, Daniah; Kim-Hellmuth, Sarah; Rayner, William; Finucane, Hilary; Peterson, Hedi; Mosaku, Abayomi; Parkinson, Helen; Alasoo, Kaur; - view fewer (2023) eQTL Catalogue 2023: New datasets, X chromosome QTLs, and improved detection and visualisation of transcript-level QTLs. PLoS Genetics , 19 (9) , Article e1010932. 10.1371/journal.pgen.1010932.

Keshavan, Nandaki; (2023) Gene therapy for Deoxyguanosine Kinase Deficiency. Doctoral thesis (Ph.D), UCL (University College London).

Kiss, Robert S; Chicoine, Jarred; Khalil, Youssef; Sladek, Robert; Chen, He; Pisaturo, Alessandro; Martin, Cyril; ... Handley, Mark T; + view all Kiss, Robert S; Chicoine, Jarred; Khalil, Youssef; Sladek, Robert; Chen, He; Pisaturo, Alessandro; Martin, Cyril; Dale, Jessica D; Brudenell, Tegan A; Kamath, Archith; Kyei-Boahen, Jeffrey; Hafiane, Anouar; Daliah, Girija; Alecki, Célia; Hopes, Tayah S; Heier, Martin; Aligianis, Irene A; Lebrun, Jean-Jacques; Aspden, Julie; Paci, Emanuele; Kerksiek, Anja; Lütjohann, Dieter; Clayton, Peter; Wills, Jimi C; Von Kriegsheim, Alex; Nilsson, Tommy; Sheridan, Eamonn; Handley, Mark T; - view fewer (2023) Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis. Journal of Biological Chemistry , 299 (11) , Article 105295. 10.1016/j.jbc.2023.105295.

Knöpfel, Nicole; Zecchin, Davide; Richardson, Hanna; Polubothu, Satyamaanasa; Barberan-Martin, Sara; Cullup, Thomas; Gholam, Karolina; ... Kinsler, Veronica A; + view all Knöpfel, Nicole; Zecchin, Davide; Richardson, Hanna; Polubothu, Satyamaanasa; Barberan-Martin, Sara; Cullup, Thomas; Gholam, Karolina; Heales, Simon; Krywawych, Steve; López-Balboa, Pablo; Muwanga-Nanyonjo, Noreen; Ogunbiyi, Olumide; Puvirajasinghe, Clinda; Solman, Lea; Swarbrick, Katherine; Syed, Samira B; Tahir, Zubair; Tisdall, Martin M; Allgrove, Jeremy; Chesover, Alexander D; Aylett, Sarah E; Jacques, Thomas S; Hannan, Fadil M; Löbel, Ulrike; Semple, Robert K; Thakker, Rajesh V; Kinsler, Veronica A; - view fewer (2023) GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification. Journal of Investigative Dermatology 10.1016/j.jid.2023.09.008. (In press).

Leonard, Hampton L; Murtadha, Ruqaya; Martinez-Carrasco, Alejandro; Jama, Alina; Mueller-Nedebock, Amica Corda; Gil-Martinez, Ana-Luisa; Illarionova, Anastasia; ... Noyce, Alastair J; + view all Leonard, Hampton L; Murtadha, Ruqaya; Martinez-Carrasco, Alejandro; Jama, Alina; Mueller-Nedebock, Amica Corda; Gil-Martinez, Ana-Luisa; Illarionova, Anastasia; Moore, Anni; Bustos, Bernabe; Jadhav, Bharati; Huxford, Brook; Storm, Catherine; Towns, Clodagh; Vitale, Dan; Chetty, Devina; Yu, Eric; Grenn, Francis P; Salazar, Gabriela; Rateau, Geoffrey; Iwaki, Hirotaka; Elsayed, Inas; Foote, Isabelle Francesca; van Rensburg, Zune Jansen; Kim, Jonggeol Jeff; Yuan, Jie; Lake, Julie; Brolin, Kajsa; Senkevich, Konstantin; Wu, Lesley; Tan, Manuela MX; Perinan, Maria Teresa; Makarious, Mary B; Ta, Michael; Pillay, Nikita Simone; Betancor, Oswaldo Lorenzo; Reyes-Perez, Paula R; Alvarez Jerez, Pilar; Saini, Prabhjyot; al-Ouran, Rami; Sivakumar, Ramiya; Real, Raquel; Reynolds, Regina H; Hu, Ruifneg; Abrahams, Shameemah; Rao, Shilpa L; Antar, Tarek; Leal, Thiago Peixoto; Iankova, Vassilena; Scotton, William J; Song, Yeajin; Singleton, Andrew; Nalls, Mike A; Dey, Sumit; Bandres-Ciga, Sara; Blauwendraat, Cornelis; Noyce, Alastair J; - view fewer (2023) Author Correction: The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data. npj Parkinson's Disease , 9 , Article 77. 10.1038/s41531-023-00529-6.

Leonard, Hampton L; Murtadha, Ruqaya; Martinez-Carrasco, Alejandro; Jama, Alina; Müller-Nedebock, Amica Corda; Gil-Martinez, Ana-Luisa; Illarionova, Anastasia; ... International Parkinson Disease Genomics Consortium (IPDGC) and; + view all Leonard, Hampton L; Murtadha, Ruqaya; Martinez-Carrasco, Alejandro; Jama, Alina; Müller-Nedebock, Amica Corda; Gil-Martinez, Ana-Luisa; Illarionova, Anastasia; Moore, Anni; Bustos, Bernabe I; Jadhav, Bharati; Huxford, Brook; Storm, Catherine; Towns, Clodagh; Vitale, Dan; Chetty, Devina; Yu, Eric; Grenn, Francis P; Salazar, Gabriela; Rateau, Geoffrey; Iwaki, Hirotaka; Elsayed, Inas; Foote, Isabelle Francesca; Jansen van Rensburg, Zuné; Kim, Jonggeol Jeff; Yuan, Jie; Lake, Julie; Brolin, Kajsa; Senkevich, Konstantin; Wu, Lesley; Tan, Manuela MX; Periñán, María Teresa; Makarious, Mary B; Ta, Michael; Pillay, Nikita Simone; Betancor, Oswaldo Lorenzo; Reyes-Pérez, Paula R; Alvarez Jerez, Pilar; Saini, Prabhjyot; Al-Ouran, Rami; Sivakumar, Ramiya; Real, Raquel; Reynolds, Regina H; Hu, Ruifneg; Abrahams, Shameemah; Rao, Shilpa C; Antar, Tarek; Leal, Thiago Peixoto; Iankova, Vassilena; Scotton, William J; Song, Yeajin; Singleton, Andrew; Nalls, Mike A; Dey, Sumit; Bandres-Ciga, Sara; Blauwendraat, Cornelis; Noyce, Alastair J; International Parkinson Disease Genomics Consortium (IPDGC) and; - view fewer (2023) The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data. NPJ Parkinson's Disease , 9 , Article 33. 10.1038/s41531-023-00472-6.

Lona-Durazo, Frida; Reynolds, Regina H; Scholz, Sonja W; Ryten, Mina; Gagliano Taliun, Sarah A; (2023) Regional genetic correlations highlight relationships between neurodegenerative disease loci and the immune system. Communications Biology , 6 , Article 729. 10.1038/s42003-023-05113-5.

Makarious, Mary B; Lake, Julie; Pitz, Vanessa; Fu, Allen Ye; Guidubaldi, Joseph L; Solsberg, Caroline Warly; Bandres-Ciga, Sara; ... Blauwendraat, Cornelis; + view all Makarious, Mary B; Lake, Julie; Pitz, Vanessa; Fu, Allen Ye; Guidubaldi, Joseph L; Solsberg, Caroline Warly; Bandres-Ciga, Sara; Leonard, Hampton L; Kim, Jonggeol Jeffrey; Billingsley, Kimberley J; Grenn, Francis P; Alvarez Jerez, Pilar; Alvarado, Chelsea; Iwaki, Hirotaka; Ta, Michael; Vitale, Dan; Hernandez, Dena; Torkamani, Ali; Ryten, Mina; Hardy, John; UK Brain Expression Consortium, (UKBEC); Scholz, Sonja W; Traynor, Bryan J; Dalgard, Clifton L; Ehrlich, Debra J; Tanaka, Toshiko; Ferrucci, Luigi; Beach, Thomas G; Serrano, Geidy E; Real, Raquel; Morris, Huw R; Ding, Jinhui; Gibbs, J Raphael; Singleton, Andrew B; Nalls, Mike A; Bhangale, Tushar; Blauwendraat, Cornelis; - view fewer (2023) Large-scale rare variant burden testing in Parkinson's disease. Brain , 146 (11) pp. 4622-4632. 10.1093/brain/awad214.

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Seker Yilmaz, Berna; Gissen, Paul; (2023) AAV-mediated gene therapy for rare metabolic disorders: turning a promise into a reality. The Biochemist , 45 (4) pp. 2-5. 10.1042/bio_2023_128.

Seker Yilmaz, Berna; Gissen, Paul; (2023) Targeting the liver to treat the eye. EMBO Molecular Medicine , Article e17285. 10.15252/emmm.202217285.

Seker Yilmaz, Berna; Gissen, Paul; (2023) Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency. Biomedicines , 11 (8) , Article 2227. 10.3390/biomedicines11082227.

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Suntharalingham, Jenifer P; Ishida, Miho; Cameron-Pimblett, Antoinette; McGlacken-Byrne, Sinead M; Buonocore, Federica; Del Valle, Ignacio; Madhan, Gaganjit Kaur; ... Achermann, John C; + view all Suntharalingham, Jenifer P; Ishida, Miho; Cameron-Pimblett, Antoinette; McGlacken-Byrne, Sinead M; Buonocore, Federica; Del Valle, Ignacio; Madhan, Gaganjit Kaur; Brooks, Tony; Conway, Gerard S; Achermann, John C; - view fewer (2023) Analysis of genetic variability in Turner syndrome linked to long-term clinical features. Frontiers in Endocrinology , 14 , Article 1227164. 10.3389/fendo.2023.1227164.

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Touramanidou, Loukia; (2023) Lentiviral Gene Therapy for Argininosuccinic Aciduria. Doctoral thesis (Ph.D), UCL (University College London).

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Waddington, Simon N; Peranteau, William H; Rahim, Ahad A; Boyle, Ashley K; Kurian, Manju A; Gissen, Paul; Chan, Jerry KY; Waddington, Simon N; Peranteau, William H; Rahim, Ahad A; Boyle, Ashley K; Kurian, Manju A; Gissen, Paul; Chan, Jerry KY; David, Anna L; - view fewer (2023) Fetal gene therapy. Journal of Inherited Metabolic Disease 10.1002/jimd.12659. (In press).

Walker, Amy J; Graham, Carina; Greenwood, Miriam; Woodall, Maximillian; Maeshima, Ruhina; O’Hara-Wright, Michelle; Sanz, David J; ... Hart, Stephen L; + view all Walker, Amy J; Graham, Carina; Greenwood, Miriam; Woodall, Maximillian; Maeshima, Ruhina; O’Hara-Wright, Michelle; Sanz, David J; Guerrini, Ileana; Aldossary, Ahmad M; O’Callaghan, Christopher; Baines, Deborah L; Harrison, Patrick T; Hart, Stephen L; - view fewer (2023) Molecular and functional correction of a deep intronic splicing mutation in CFTR by CRISPR-Cas9 gene editing. Molecular Therapy - Methods & Clinical Development , 31 , Article 101140. 10.1016/j.omtm.2023.101140. (In press).

Wang, Baihan; Otten, Leun J; Schulze, Katja; Afrah, Hana; Varney, Lauren; Cotic, Marius; Saadullah Khani, Noushin; ... Bramon, Elvira; + view all Wang, Baihan; Otten, Leun J; Schulze, Katja; Afrah, Hana; Varney, Lauren; Cotic, Marius; Saadullah Khani, Noushin; Linden, Jennifer F; Kuchenbaecker, Karoline; McQuillin, Andrew; Hall, Mei-Hua; Bramon, Elvira; - view fewer (2023) Is auditory processing measured by the N100 an endophenotype for psychosis? A family study and a meta-analysis. Psychological Medicine 10.1017/S0033291723003409. (In press).

Wawrzynski, James; Martinez, Ana Rodriguez; Thompson, Dorothy Ann; Ram, Dipak; Bowman, Richard; Whiteley, Rebecca; Gan, Chin; ... Henderson, Robert H; + view all Wawrzynski, James; Martinez, Ana Rodriguez; Thompson, Dorothy Ann; Ram, Dipak; Bowman, Richard; Whiteley, Rebecca; Gan, Chin; Harding, Louise; Mortensen, Amanda; Mills, Philippa; Gissen, Paul; Henderson, Robert H; - view fewer (2023) First in man study of intravitreal tripeptidyl peptidase 1 for CLN2 retinopathy. Eye 10.1038/s41433-023-02859-4. (In press).

Westhaus, Adrian; Cabanes Creus, Marti; Dilworth, Kimberley L; Zhu, Erhua; Salas, David; Navarro, Renina Gale; Amaya, Anais Karime; ... Lisowski, Leszek; + view all Westhaus, Adrian; Cabanes Creus, Marti; Dilworth, Kimberley L; Zhu, Erhua; Salas, David; Navarro, Renina Gale; Amaya, Anais Karime; Scott, Suzanne; Kwiatek, Magdalena; McCorkindale, Alexandra L; Hayman, Tara E; Frahm, Silke; Perocheau, Dany; Tran, Bang Manh; Vincan, Elizabeth; Wong, Sharon L; Waters, Shafagh A; Riddiough, Georgina E; Perini, Marcos V; Wilson, Laurence OW; Baruteau, Julien; Diecke, Sebastian; Gonzalez-Aseguinolaza, Gloria; Santilli, Giorgia; Thrasher, Adrian J; Alexander, Ian Edward; Lisowski, Leszek; - view fewer (2023) Assessment of pre-clinical liver models based on their ability to predict the liver-tropism of AAV vectors. Human Gene Therapy , 34 (7-8) pp. 273-288. 10.1089/hum.2022.188.

Whitehouse, Abigail; Rehsi, Preeya; Hartley, Louise; Grunewald, Stephanie; Yilmaz, Berna Seker; Pegoretti Baruteau, Kelly; Yaman, Ayhan; ... Baruteau, Julien; + view all Whitehouse, Abigail; Rehsi, Preeya; Hartley, Louise; Grunewald, Stephanie; Yilmaz, Berna Seker; Pegoretti Baruteau, Kelly; Yaman, Ayhan; Thavagnanam, Suren; Baruteau, Julien; - view fewer (2023) Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects. JIMD Reports , 64 (4) pp. 274-281. 10.1002/jmd2.12375.

Wilson, Lindsay A; Macken, William L; Perry, Luke D; Record, Christopher J; Schon, Katherine R; Frezatti, Rodrigo SS; Raga, Sharika; ... Hanna, Michael G; + view all Wilson, Lindsay A; Macken, William L; Perry, Luke D; Record, Christopher J; Schon, Katherine R; Frezatti, Rodrigo SS; Raga, Sharika; Naidu, Kireshnee; Köken, Özlem Yayıcı; Polat, Ipek; Kapapa, Musambo M; Dominik, Natalia; Efthymiou, Stephanie; Morsy, Heba; Nel, Melissa; Fassad, Mahmoud R; Gao, Fei; Patel, Krutik; Schoonen, Maryke; Bisschoff, Michelle; Vorster, Armand; Jonvik, Hallgeir; Human, Ronel; Lubbe, Elsa; Nonyane, Malebo; Vengalil, Seena; Nashi, Saraswati; Srivastava, Kosha; Lemmers, Richard JLF; Reyaz, Alisha; Mishra, Rinkle; Töpf, Ana; Trainor, Christina I; Steyn, Elizabeth C; Mahungu, Amokelani C; van der Vliet, Patrick J; Ceylan, Ahmet Cevdet; Hiz, A Semra; Çavdarlı, Büşranur; Semerci Gündüz, C Nur; Ceylan, Gülay Güleç; Nagappa, Madhu; Tallapaka, Karthik B; Govindaraj, Periyasamy; van der Maarel, Silvère M; Narayanappa, Gayathri; Nandeesh, Bevinahalli N; Wa Somwe, Somwe; Bearden, David R; Kvalsund, Michelle P; Ramdharry, Gita M; Oktay, Yavuz; Yiş, Uluç; Topaloğlu, Haluk; Sarkozy, Anna; Bugiardini, Enrico; Henning, Franclo; Wilmshurst, Jo M; Heckmann, Jeannine M; McFarland, Robert; Taylor, Robert W; Smuts, Izelle; van der Westhuizen, Francois H; Sobreira, Claudia Ferreira da Rosa; Tomaselli, Pedro J; Marques, Wilson; Bhatia, Rohit; Dalal, Ashwin; Srivastava, MV Padma; Yareeda, Sireesha; Nalini, Atchayaram; Vishnu, Venugopalan Y; Thangaraj, Kumarasamy; Straub, Volker; Horvath, Rita; Chinnery, Patrick F; Pitceathly, Robert DS; Muntoni, Francesco; Houlden, Henry; Vandrovcova, Jana; Reilly, Mary M; Hanna, Michael G; - view fewer (2023) Neuromuscular disease genetics in under-represented populations: increasing data diversity. Brain , Article awad254. 10.1093/brain/awad254. (In press).

Zamanipoor Najafabadi, Amir H; van der Meulen, Merel; Priego Zurita, Ana Luisa; Ahmed, S Faisal; van Furth, Wouter R; Charmandari, Evangelia; Hiort, Olaf; ... MTG6 Pituitary of Endo-ERN; + view all Zamanipoor Najafabadi, Amir H; van der Meulen, Merel; Priego Zurita, Ana Luisa; Ahmed, S Faisal; van Furth, Wouter R; Charmandari, Evangelia; Hiort, Olaf; Pereira, Alberto M; Dattani, Mehul; Vitali, Diana; de Graaf, Johan P; Biermasz, Nienke R; MTG6 Pituitary of Endo-ERN; - view fewer (2023) Starting point for benchmarking outcomes and reporting of pituitary adenoma surgery within the European Reference Network on Rare Endocrine Conditions (Endo-ERN): results from a meta-analysis and survey study. Endocrine Connections , 12 (1) , Article e220349. 10.1530/EC-22-0349.

Zecchin, Davide; Knöpfel, Nicole; Gluck, Anna K; Stevenson, Mark; Sauvadet, Aimie; Polubothu, Satyamaanasa; Barberan-Martin, Sara; ... Kinsler, Veronica A; + view all Zecchin, Davide; Knöpfel, Nicole; Gluck, Anna K; Stevenson, Mark; Sauvadet, Aimie; Polubothu, Satyamaanasa; Barberan-Martin, Sara; Michailidis, Fanourios; Bryant, Dale; Inoue, Asuka; Lines, Kate E; Hannan, Fadil M; Semple, Robert K; Thakker, Rajesh V; Kinsler, Veronica A; - view fewer (2023) GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics. Journal of Investigative Dermatology 10.1016/j.jid.2023.08.028. (In press).

Zhou, Haiyan; Arechavala-Gomeza, Virginia; Garanto, Alejandro; (2023) Experimental Model Systems Used in the Preclinical Development of Nucleic Acid Therapeutics. Nucleic Acid Therapeutics 10.1089/nat.2023.0001. (In press).

Zolkwer, Morgan B; Whitehouse, Jodi; Sanderson, Saskia C; Kinsler, Veronica A; (2023) Impact of public exhibition on the perception of birthmarks. Pediatric Dermatology 10.1111/pde.15315. (In press).

2022

Aggarwal, D; Page, AJ; Schaefer, U; Savva, GM; Myers, R; Volz, E; Ellaby, N; ... Harrison, EM; + view all Aggarwal, D; Page, AJ; Schaefer, U; Savva, GM; Myers, R; Volz, E; Ellaby, N; Platt, S; Groves, N; Gallagher, E; Tumelty, NM; Le Viet, T; Hughes, GJ; Chen, C; Turner, C; Logan, S; Harrison, A; The COVID-19 Genomics UK (COG-UK) Consortium; Peacock, SJ; Chand, M; Harrison, EM; - view fewer (2022) Genomic assessment of quarantine measures to prevent SARS-CoV-2 importation and transmission. Nature Communications , 13 , Article 1012. 10.1038/s41467-022-28371-z.

Aguti, Sara; Guirguis, Fady; Bönnemann, Carsten; Muntoni, Francesco; Bolduc, Veronique; Zhou, Haiyan; (2022) Exon-Skipping for a Pathogenic COL6A1 Variant in Ullrich Congenital Muscular Dystrophy. In: Maruyama, R and Yokota, T, (eds.) Methods in Molecular Biology. (pp. 387-407). Springer Nature: New York, NY, USA.

Akin, L; Rizzoti, K; Gregory, LC; Corredor, B; Le Quesne Stabej, P; Williams, H; Buonocore, F; ... Dattani, MT; + view all Akin, L; Rizzoti, K; Gregory, LC; Corredor, B; Le Quesne Stabej, P; Williams, H; Buonocore, F; Mouilleron, S; Capra, V; McGlacken-Byrne, SM; Martos-Moreno, GÁ; Azmanov, DN; Kendirci, M; Kurtoglu, S; Suntharalingham, JP; Galichet, C; Gustincich, S; Tasic, V; Achermann, JC; Accogli, A; Filipovska, A; Tuilpakov, A; Maghnie, M; Gucev, Z; Gonen, ZB; Pérez-Jurado, LA; Robinson, I; Lovell-Badge, R; Argente, J; Dattani, MT; - view fewer (2022) Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency. Genetics in Medicine , 24 (2) pp. 384-397. 10.1016/j.gim.2021.09.019.

Ali, Naseer; Maharaj, Avinaash Vickram; Buonocore, Federica; Achermann, John C; Metherell, Louise A; (2022) Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report. Frontiers in Endocrinology , 13 , Article 860055. 10.3389/fendo.2022.860055.

Ashford, F; Best, A; Dunn, SJ; Ahmed, Z; Siddiqui, H; Melville, J; Wilkinson, S; ... Jamrozy, D; + view all Ashford, F; Best, A; Dunn, SJ; Ahmed, Z; Siddiqui, H; Melville, J; Wilkinson, S; Mirza, J; Cumley, N; Stockton, J; Ferguson, J; Wheatley, L; Ratcliffe, E; Casey, A; Plant, T; Quick, J; Richter, A; Loman, N; McNally, A; Aggarwal, D; Blane, B; Brooks, E; Carabelli, AM; Churcher, CM; Galai, K; Girgis, ST; Gupta, RK; Hadjirin, NF; Leek, D; Ludden, C; McManus, GM; Palmer, S; Peacock, SJ; Smith, KS; Allara, E; Bibby, D; Bishop, C; Bosworth, A; Bradshaw, D; Chalker, V; Chand, M; Dabrera, G; Ellaby, N; Gallagher, E; Groves, N; Harrison, I; Hartman, H; Hopes, R; Hubb, J; Hutchings, S; Lackenby, A; Ledesma, J; Lee, D; Manesis, N; Manso, C; Mbisa, T; Miah, S; Muir, P; Myers, R; Osman, H; Patel, V; Pearson, C; Platt, S; Pymont, HM; Ramsay, M; Robinson, E; Schaefer, U; Thornton, A; Twohig, KA; Vipond, IB; Williams, D; Hamilton, WL; Warne, B; Aigrain, L; Alderton, A; Amato, R; Ariani, CV; Barrett, J; Bassett, AR; Beale, MA; Beaver, C; Bellis, KL; Betteridge, E; Bonfield, J; Bronner, IF; Chapman, MHS; Danesh, J; Davies, R; Dorman, MJ; Drury, E; Durham, J; Farr, BW; Foulser, L; Goncalves, S; Goodwin, S; Gourtovaia, M; Harrison, EM; Jackson, DK; James, K; Jamrozy, D; - view fewer (2022) SARS-CoV-2 Testing in the Community: Testing Positive Samples with the TaqMan SARS-CoV-2 Mutation Panel To Find Variants in Real Time. Journal of Clinical Microbiology , 60 (4) , Article e02408-21. 10.1128/jcm.02408-21.

Bacila, I; Lawrence, NR; Mahdi, S; Alvi, S; Cheetham, TD; Crowne, E; Das, U; ... Krone, NP; + view all Bacila, I; Lawrence, NR; Mahdi, S; Alvi, S; Cheetham, TD; Crowne, E; Das, U; Dattani, MT; Davies, JH; Gevers, E; Krone, RE; Kyriakou, A; Patel, L; Randell, T; Ryan, FJ; Keevil, B; Ahmed, SF; Krone, NP; - view fewer (2022) Health status of children and young persons with congenital adrenal hyperplasia in the UK (CAH-UK): a cross-sectional multi-centre study. European Journal of Endocrinology , 187 (4) pp. 543-553. 10.1530/EJE-21-1109.

Bacq, A; Roussel, D; Bonduelle, T; Zagaglia, S; Maletic, M; Ribierre, T; Adle-Biassette, H; ... Baulac, S; + view all Bacq, A; Roussel, D; Bonduelle, T; Zagaglia, S; Maletic, M; Ribierre, T; Adle-Biassette, H; Marchal, C; Jennesson, M; An, I; Genomics UK Research Consortium, .; Picard, F; Navarro, V; Sisodiya, SM; Baulac, S; - view fewer (2022) Cardiac investigations in sudden unexpected death in DEPDC5-related epilepsy. Annals of Neurology , 91 (1) pp. 101-116. 10.1002/ana.26256.

Baptiste, C; Mellis, R; Aggarwal, V; Lord, J; Eberhardt, R; Kilby, MD; Maher, ER; ... Chitty, LS; + view all Baptiste, C; Mellis, R; Aggarwal, V; Lord, J; Eberhardt, R; Kilby, MD; Maher, ER; Wapner, R; Giordano, J; Chitty, LS; - view fewer (2022) Fetal central nervous system anomalies: When should we offer exome sequencing? Prenatal Diagnosis , 42 (6) pp. 736-743. 10.1002/pd.6145.

Bezen, Diğdem; Kutlu, Orkide; Mouilleron, Stephane; Rizzoti, Karine; Dattani, Mehul; Guran, Tulay; Yeşil, Gözde; (2022) A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy. American Journal of Medical Genetics Part A , 188 (9) pp. 2701-2706. 10.1002/ajmg.a.62888.

Birkeland, Nina Asheim; Carlsen, Viel Nyborg; Gulati, Sasha; Gustavsson, Emil K; Aasly, Jan O; (2022) Deep brain stimulation in a Parkinson's disease patient with calcifications and a mutation in the SLC20A2 gene. Parkinsonism & Related Disorders , 98 pp. 88-90. 10.1016/j.parkreldis.2022.01.019.

Bolton, SC; Soran, V; Marfa, MP; Imrie, J; Gissen, P; Jahnova, H; Sharma, R; ... Geberhiwot, T; + view all Bolton, SC; Soran, V; Marfa, MP; Imrie, J; Gissen, P; Jahnova, H; Sharma, R; Jones, S; Santra, S; Crushell, E; Stampfer, M; Coll, MJ; Dawson, C; Mathieson, T; Green, J; Dardis, A; Bembi, B; Patterson, MC; Vanier, MT; Geberhiwot, T; - view fewer (2022) Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR). Orphanet Journal of Rare Diseases , 17 (1) , Article 51. 10.1186/s13023-022-02200-4.

Brunetti-Pierri, N; Gissen, P; (2022) A retrograde approach for liver gene transfer. Methods & Clinical Development , 27 pp. 488-490. 10.1016/j.omtm.2022.11.002.

Bryant, Dale; Pauzuolyte, Valda; Ingham, Neil J; Patel, Aara; Pagarkar, Waheeda; Anderson, Lucy A; Smith, Katie E; ... Bitner-Glindzicz, Maria; + view all Bryant, Dale; Pauzuolyte, Valda; Ingham, Neil J; Patel, Aara; Pagarkar, Waheeda; Anderson, Lucy A; Smith, Katie E; Moulding, Dale A; Leong, Yeh C; Jafree, Daniyal J; Long, David A; Al-Yassin, Amina; Steel, Karen P; Jagger, Daniel J; Forge, Andrew; Berger, Wolfgang; Sowden, Jane C; Bitner-Glindzicz, Maria; - view fewer (2022) The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention. JCI Insight , 7 (3) , Article e148586. 10.1172/jci.insight.148586.

Buchanan, James; Hill, Melissa; Vass, Caroline M; Hammond, Jennifer; Riedijk, Sam; Klapwijk, Jasmijn E; Harding, Eleanor; ... Lewis, Celine; + view all Buchanan, James; Hill, Melissa; Vass, Caroline M; Hammond, Jennifer; Riedijk, Sam; Klapwijk, Jasmijn E; Harding, Eleanor; Lou, Stina; Vogel, Ida; Hui, Lisa; Ingvoldstad-Malmgren, Charlotta; Soller, Maria Johansson; Ormond, Kelly E; Choolani, Mahesh; Zheng, Qian; Chitty, Lyn S; Lewis, Celine; - view fewer (2022) Factor's that impact on women's decision-making around prenatal genomic tests: An international discrete choice survey. Prenatal Diagnosis 10.1002/pd.6159. (In press).

Burlina, A; Jones, SA; Chakrapani, A; Church, HJ; Heales, S; Wu, THY; Morton, G; ... Cheillan, D; + view all Burlina, A; Jones, SA; Chakrapani, A; Church, HJ; Heales, S; Wu, THY; Morton, G; Roberts, P; Sluys, EF; Cheillan, D; - view fewer (2022) A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes. International Journal of Neonatal Screening , 8 (2) , Article 25. 10.3390/ijns8020025.

Cerbone, Manuela; Katugampola, Harshini; Simpson, Helen L; Dattani, Mehul T; (2022) Approach to the Patient: Management of Pituitary Hormone Replacement Through Transition. The Journal of Clinical Endocrinology & Metabolism , 107 (7) pp. 2077-2091. 10.1210/clinem/dgac129.

Chandler, Natalie J; Scotchman, Elizabeth; Mellis, Rhiannon; Ramachandran, Vijaya; Roberts, Rowenna; Chitty, Lyn S; (2022) Lessons learnt from prenatal exome sequencing. Prenatal Diagnosis 10.1002/pd.6165. (In press).

Choi, Minee L; Chappard, Alexandre; Singh, Bhanu P; Maclachlan, Catherine; Rodrigues, Margarida; Fedotova, Evgeniya I; Berezhnov, Alexey V; ... Gandhi, Sonia; + view all Choi, Minee L; Chappard, Alexandre; Singh, Bhanu P; Maclachlan, Catherine; Rodrigues, Margarida; Fedotova, Evgeniya I; Berezhnov, Alexey V; De, Suman; Peddie, Christopher J; Athauda, Dilan; Virdi, Gurvir S; Zhang, Weijia; Evans, James R; Wernick, Anna I; Zanjani, Zeinab Shadman; Angelova, Plamena R; Esteras, Noemi; Vinokurov, Andrey Y; Morris, Katie; Jeacock, Kiani; Tosatto, Laura; Little, Daniel; Gissen, Paul; Clarke, David J; Kunath, Tilo; Collinson, Lucy; Klenerman, David; Abramov, Andrey Y; Horrocks, Mathew H; Gandhi, Sonia; - view fewer (2022) Pathological structural conversion of α-synuclein at the mitochondria induces neuronal toxicity. Nature Neuroscience 10.1038/s41593-022-01140-3. (In press).

Chung, Gary Hong Chun; Lorvellec, Maëlle; Gissen, Paul; Pichaud, Franck; Burden, Jemima J; Stefan, Christopher J; (2022) The ultrastructural organization of endoplasmic reticulum-plasma membrane contacts is conserved in epithelial cells. Molecular Biology of the Cell 10.1091/mbc.E21-11-0534-T. (In press).

Craven, Claudia L; Gissen, Paul; Bower, Rebecca; Lee, Laura; Aquilina, Kristian; Thompson, Dominic NP; (2022) A survival analysis of ventricular access devices for delivery of cerliponase alfa. Journal of Neurosurgery: Pediatrics , 29 (1) pp. 115-121. 10.3171/2021.7.PEDS21129.

Doykov, Ivan; Baldwin, Tomas; Spiewak, Justyna; Gilmour, Kimberly C; Gibbons, Joseph M; Pade, Corinna; Reynolds, Catherine; ... Heywood, Wendy E; + view all Doykov, Ivan; Baldwin, Tomas; Spiewak, Justyna; Gilmour, Kimberly C; Gibbons, Joseph M; Pade, Corinna; Reynolds, Catherine; McKnight, Áine; Noursadeghi, Mahdad; Maini, Mala K; Manisty, Charlotte; Treibel, Thomas; Captur, Gabriella; Fontana, Marianna; Boyton, Rosemary J; Altmann, Daniel M; Brooks, Tim; Semper, Amanda; UK COVIDsortium Investigators, .; Moon, James C; Mills, Kevin; Heywood, Wendy E; - view fewer (2022) Quantitative, multiplexed, targeted proteomics for ascertaining variant specific SARS-CoV-2 antibody response. Cell Reports Methods , 2 (9) , Article 100279. 10.1016/j.crmeth.2022.100279.

Duff, Claire; Baruteau, Julien; (2022) Modelling urea cycle disorders using iPSCs. npj Regenerative Medicine , 7 , Article 56. 10.1038/s41536-022-00252-5.

Eales, O; Page, AJ; De Oliveira Martins, L; Wang, H; Bodinier, B; Haw, D; Jonnerby, J; ... Elliott, P; + view all Eales, O; Page, AJ; De Oliveira Martins, L; Wang, H; Bodinier, B; Haw, D; Jonnerby, J; Atchison, C; The COVID-19 Genomics UK (COG-UK) Consortium; Ashby, D; Barclay, W; Taylor, G; Cooke, G; Ward, H; Darzi, A; Riley, S; Chadeau-Hyam, M; Donnelly, CA; Elliott, P; - view fewer (2022) SARS-CoV-2 lineage dynamics in England from September to November 2021: high diversity of Delta sub-lineages and increased transmissibility of AY.4.2. BMC Infectious Diseases , 22 , Article 647. 10.1186/s12879-022-07628-4.

Elangovan, Ramyia; Baruteau, Julien; (2022) Inherited and acquired vitamin B12 deficiencies: Which administration route to choose for supplementation? Frontiers in Pharmacology , 13 , Article 972468. 10.3389/fphar.2022.972468.

García-Ruiz, Sonia; Gustavsson, Emil K; Zhang, David; Reynolds, Regina H; Chen, Zhongbo; Fairbrother-Browne, Aine; Gil-Martínez, Ana Luisa; ... Ryten, Mina; + view all García-Ruiz, Sonia; Gustavsson, Emil K; Zhang, David; Reynolds, Regina H; Chen, Zhongbo; Fairbrother-Browne, Aine; Gil-Martínez, Ana Luisa; Botia, Juan A; Collado-Torres, Leonardo; Ryten, Mina; - view fewer (2022) IntroVerse: a comprehensive database of introns across human tissues. Nucleic Acids Research 10.1093/nar/gkac1056. (In press).

Gibson, Joel T; Sadeghi-Alavijeh, Omid; Gale, Daniel P; Rothe, Hansjörg; Genomics England Research Consortium; Savige, Judy; (2022) Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome. Scientific Reports , 12 , Article 11257. 10.1038/s41598-022-14928-x.

Grant, HE; Roy, S; Williams, R; Tutill, H; Ferns, B; Cane, PA; Carswell, JW; ... Leigh Brown, AJ; + view all Grant, HE; Roy, S; Williams, R; Tutill, H; Ferns, B; Cane, PA; Carswell, JW; Ssemwanga, D; Kaleebu, P; Breuer, J; Leigh Brown, AJ; - view fewer (2022) A large population sample of African HIV genomes from the 1980s reveals a reduction in subtype D over time associated with propensity for CXCR4 tropism. Retrovirology , 19 , Article 28. 10.1186/s12977-022-00612-5.

Gustavsson, Emil K; Zhang, David; Reynolds, Regina H; Garcia-Ruiz, Sonia; Ryten, Mina; (2022) ggtranscript: an R package for the visualization and interpretation of transcript isoforms using ggplot2. Bioinformatics 10.1093/bioinformatics/btac409. (In press).

Hall, George T; Oliveto, Pietro S; Sudholt, Dirk; (2022) On the impact of the performance metric on efficient algorithm configuration. Artificial Intelligence , 303 , Article 103629. 10.1016/j.artint.2021.103629.

Hällqvist, Jenny; Lane, Dan; Shapanis, Andrew; Davis, Kayleigh; Heywood, Wendy E; Doykov, Ivan; Śpiewak, Justyna; ... Carling, Rachel S; + view all Hällqvist, Jenny; Lane, Dan; Shapanis, Andrew; Davis, Kayleigh; Heywood, Wendy E; Doykov, Ivan; Śpiewak, Justyna; Ghansah, Nana; Keevil, Brian; Gupta, Pankaj; Jukes-Jones, Rebekah; Singh, Raj; Foley, Dominic; Vissers, Johannes PC; Pattison, Rebecca; Ferries, Samantha; Wardle, Robert; Bartlett, Amy; Calton, Lisa J; Anderson, Leigh; Razavi, Morteza; Pearson, Terry; Pope, Matt; Yip, Richard; Ng, Leong L; Nicholas, Benjamin I; Bailey, Alistair; Noel, Dan; Dalton, R Neil; Heales, Simon; Hopley, Christopher; Pitt, Andrew R; Barran, Perdita; Jones, Donald JL; Mills, Kevin; Skipp, Paul; Carling, Rachel S; - view fewer (2022) Operation Moonshot: rapid translation of a SARS-CoV-2 targeted peptide immunoaffinity liquid chromatography-tandem mass spectrometry test from research into routine clinical use. Clinical Chemistry and Laboratory Medicine (CCLM) , 61 (2) pp. 302-310. 10.1515/cclm-2022-1000.

Hällqvist, Jenny Cecilia; (2022) Biomarker discovery in Parkinson's disease and centenarians - Proteomic studies of neurodegeneration and healthy ageing by mass spectrometry and machine learning. Doctoral thesis (Ph.D), UCL (University College London).

Hill, Melissa; Ellard, Sian; Fisher, Jane; Fulop, Naomi; Knight, Marian; Kroese, Mark; Ledger, Jean; ... Chitty, Lyn S; + view all Hill, Melissa; Ellard, Sian; Fisher, Jane; Fulop, Naomi; Knight, Marian; Kroese, Mark; Ledger, Jean; Leeson-Beevers, Kerry; McEwan, Alec; McMullan, Dominic; Mellis, Rhiannon; Morris, Stephen; Parker, Michael; Tapon, Dagmar; Baple, Emma; Blackburn, Laura; Choudry, Asya; Lafarge, Caroline; McInnes-Dean, Hannah; Peter, Michelle; Ramakrishnan, Rema; Roberts, Lauren; Searle, Beverly; Smith, Emma; Walton, Holly; Wynn, Sarah L; Han Wu, Wing; Chitty, Lyn S; - view fewer (2022) Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service. NIHR Open Research , 2 , Article 10. 10.3310/nihropenres.13247.2.

Hill, Melissa; Ellard, Sian; Fisher, Jane; Fulop, Naomi; Knight, Marian; Kroese, Mark; Ledger, Jean; ... Chitty, Lyn; + view all Hill, Melissa; Ellard, Sian; Fisher, Jane; Fulop, Naomi; Knight, Marian; Kroese, Mark; Ledger, Jean; Leeson-Beevers, Kerry; McEwan, Alec; McMullan, Dominic; Mellis, Rhiannon; Morris, Stephen; Parker, Michael; Tapon, Dagmar; Baple, Emma; Blackburn, Laura; Choudry, Aysa; Lafarge, Caroline; McInnes-Dean, Hannah; Peter, Michelle; Ramakrishnan, Rema; Roberts, Lauren; Searle, Beverly; Wynn, Sarah; Han Wu, Wing; Chitty, Lyn; - view fewer (2022) Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service. NIHR Open Research , 2 , Article 10. 10.3310/nihropenres.13247.1.

Jacobsen, JOB; Baudis, M; Baynam, GS; Beckmann, JS; Beltran, S; Buske, OJ; Callahan, TJ; ... Robinson, PN; + view all Jacobsen, JOB; Baudis, M; Baynam, GS; Beckmann, JS; Beltran, S; Buske, OJ; Callahan, TJ; Chute, CG; Courtot, M; Danis, D; Elemento, O; Essenwanger, A; Freimuth, RR; Gargano, MA; Groza, T; Hamosh, A; Harris, NL; Kaliyaperumal, R; Lloyd, KCK; Khalifa, A; Krawitz, PM; Köhler, S; Laraway, BJ; Lehväslaiho, H; Matalonga, L; McMurry, JA; Metke-Jimenez, A; Mungall, CJ; Munoz-Torres, MC; Ogishima, S; Papakonstantinou, A; Piscia, D; Pontikos, N; Queralt-Rosinach, N; Roos, M; Sass, J; Schofield, PN; Seelow, D; Siapos, A; Smedley, D; Smith, LD; Steinhaus, R; Sundaramurthi, JC; Swietlik, EM; Thun, S; Vasilevsky, NA; Wagner, AH; Warner, JL; Weiland, C; Haendel, MA; Robinson, PN; - view fewer (2022) The GA4GH Phenopacket schema defines a computable representation of clinical data. Nature Biotechnology , 40 (6) pp. 817-820. 10.1038/s41587-022-01357-4.

Jones, SA; Cheillan, D; Chakrapani, A; Church, HJ; Heales, S; Wu, THY; Morton, G; ... Burlina, A; + view all Jones, SA; Cheillan, D; Chakrapani, A; Church, HJ; Heales, S; Wu, THY; Morton, G; Roberts, P; Sluys, EF; Burlina, A; - view fewer (2022) Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. International Journal of Neonatal Screening , 8 (1) , Article 20. 10.3390/ijns8010020.

Kaivola, K; Shah, Z; Chia, R; Black, SE; Gan-Or, Z; Keith, J; Masellis, M; ... Scholz, SW; + view all Kaivola, K; Shah, Z; Chia, R; Black, SE; Gan-Or, Z; Keith, J; Masellis, M; Rogaeva, E; Brice, A; Lesage, S; Xiromerisiou, G; Calvo, A; Canosa, A; Chio, A; Logroscino, G; Mora, G; Krüger, R; May, P; Alcolea, D; Clarimon, J; Fortea, J; Gonzalez-Aramburu, I; Infante, J; Lage, C; Lleó, A; Pastor, P; Sanchez-Juan, P; Brett, F; Aarsland, D; Al-Sarraj, S; Attems, J; Gentleman, S; Hardy, JA; Hodges, AK; Love, S; Mckeith, IG; Morris, CM; Morris, HR; Palmer, L; Pickering-Brown, S; Ryten, M; Thomas, AJ; Troakes, C; Albert, MS; Barrett, MJ; Beach, TG; Bekris, LM; Bennett, DA; Boeve, BF; Dalgard, CL; Dawson, TM; Dickson, DW; Faber, K; Ferman, T; Ferrucci, L; Flanagan, ME; Foroud, TM; Ghetti, B; Gibbs, JR; Goate, A; Goldstein, DS; Graff-Radford, NR; Kaufmann, H; Kukull, WA; Leverenz, JB; Mao, Q; Masliah, E; Monuki, E; Newell, KL; Palma, JA; Pletnikova, O; Renton, AE; Resnick, SM; Rosenthal, LS; Ross, OA; Scherzer, CR; Serrano, GE; Shakkottai, VG; Sidransky, E; Tanaka, T; Topol, E; Torkamani, A; Troncoso, JC; Woltjer, R; Wszolek, ZK; Scholz, SW; - view fewer (2022) Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups. Brain , 145 (5) pp. 1757-1762. 10.1093/brain/awab402.

Karaa, Amel; MacMullen, Laura E; Campbell, John C; Christodoulou, John; Cohen, Bruce H; Klopstock, Thomas; Koga, Yasutoshi; ... Falk, Marni J; + view all Karaa, Amel; MacMullen, Laura E; Campbell, John C; Christodoulou, John; Cohen, Bruce H; Klopstock, Thomas; Koga, Yasutoshi; Lamperti, Costanza; van Maanen, Rob; McFarland, Robert; Parikh, Sumit; Rahman, Shamima; Scaglia, Fernando; Sherman, Alexander V; Yeske, Philip; Falk, Marni J; - view fewer (2022) Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease. Advanced Genetics , 3 (1) , Article 2100047. 10.1002/ggn2.202100047.

Keshavan, Nandaki; Wood, Michelle; Alderson, Lucy M; Cortina-Borja, Mario; Skeath, Rachel; McSweeney, Mel; Dixon, Marjorie; ... Batzios, Spyros; + view all Keshavan, Nandaki; Wood, Michelle; Alderson, Lucy M; Cortina-Borja, Mario; Skeath, Rachel; McSweeney, Mel; Dixon, Marjorie; Cleary, Maureen A; Footitt, Emma; Batzios, Spyros; - view fewer (2022) Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency. JIMD Reports , 63 (2) pp. 123-130. 10.1002/jmd2.12266.

Khalil, Y; Carrino, S; Lin, F; Ferlin, A; Lad, HV; Mazzacuva, F; Falcone, S; ... Clayton, PT; + view all Khalil, Y; Carrino, S; Lin, F; Ferlin, A; Lad, HV; Mazzacuva, F; Falcone, S; Rivers, N; Banks, G; Concas, D; Aguilar, C; Haynes, AR; Blease, A; Nicol, T; Al-Shawi, R; Heywood, W; Potter, P; Mills, K; Gale, DP; Clayton, PT; - view fewer (2022) Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation. International Journal of Molecular Sciences , 23 (2) , Article 987. 10.3390/ijms23020987.

Kılıç Yıldırım, G; Yarar, C; Şeker Yılmaz, B; Ceylaner, S; (2022) Niemann–Pick type C disease with a novel intronic mutation: three Turkish cases from the same family. Journal of Pediatric Endocrinology and Metabolism , 35 (4) pp. 535-541. 10.1515/jpem-2021-0052.

Kor, Deniz; Bulut, Fatma Derya; Kılavuz, Sebile; Şeker Yılmaz, Berna; Köşeci, Burcu; Kara, Esra; Kaya, Ömer; ... Önenli Mungan, Neslihan; + view all Kor, Deniz; Bulut, Fatma Derya; Kılavuz, Sebile; Şeker Yılmaz, Berna; Köşeci, Burcu; Kara, Esra; Kaya, Ömer; Başaran, Sibel; Seydaoğlu, Gülşah; Önenli Mungan, Neslihan; - view fewer (2022) Evaluation of bone health in patients with mucopolysaccharidosis. Journal of Bone and Mineral Metabolism , 40 (3) pp. 498-507. 10.1007/s00774-021-01304-4.

Kožich, Viktor; Schwahn, Bernd; Sokolová, Jitka; Křížková, Michaela; Ditroi, Tamas; Krijt, Jakub; Khalil, Youssef; ... Nagy, Peter; + view all Kožich, Viktor; Schwahn, Bernd; Sokolová, Jitka; Křížková, Michaela; Ditroi, Tamas; Krijt, Jakub; Khalil, Youssef; Křížek, Tomáš; Vaculíková-Fantlová, Tereza; Stibůrková, Blanka; Mills, Philippa; Clayton, Peter; Barvíková, Kristýna; Blessing, Holger; Sykut-Cegielska, Jolanta; Dionisi-Vici, Carlo; Gasperini, Serena; Garcia Cazorla, Angeles; Haack, Tobias; Honzík, Tomáš; Ješina, Pavel; Kuster, Alice; Laugwitz, Lucia; Martinelli, Diego; Porta, Francesco; Santer, René; Schwarz, Guenter; Nagy, Peter; - view fewer (2022) Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis. Redox Biology , 58 , Article 102517. 10.1016/j.redox.2022.102517.

Kozicz, Tamas; Rahman, Shamima; Morava, Eva; (2022) The doxycycline paradox in primary mitochondrial diseases. Journal of Inherited Metabolic Disease , 45 (4) pp. 659-660. 10.1002/jimd.12531.

Krohn, Lynne; Heilbron, Karl; Blauwendraat, Cornelis; Reynolds, Regina H; Yu, Eric; Senkevich, Konstantin; Rudakou, Uladzislau; ... Gan-Or, Ziv; + view all Krohn, Lynne; Heilbron, Karl; Blauwendraat, Cornelis; Reynolds, Regina H; Yu, Eric; Senkevich, Konstantin; Rudakou, Uladzislau; Estiar, Mehrdad A; Gustavsson, Emil K; Brolin, Kajsa; Ruskey, Jennifer A; Freeman, Kathryn; Asayesh, Farnaz; Chia, Ruth; Arnulf, Isabelle; Hu, Michele TM; Montplaisir, Jacques Y; Gagnon, Jean-François; Desautels, Alex; Dauvilliers, Yves; Gigli, Gian Luigi; Valente, Mariarosaria; Janes, Francesco; Bernardini, Andrea; Högl, Birgit; Stefani, Ambra; Ibrahim, Abubaker; Šonka, Karel; Kemlink, David; Oertel, Wolfgang; Janzen, Annette; Plazzi, Giuseppe; Biscarini, Francesco; Antelmi, Elena; Figorilli, Michela; Puligheddu, Monica; Mollenhauer, Brit; Trenkwalder, Claudia; Sixel-Döring, Friederike; Cochen De Cock, Valérie; Monaca, Christelle Charley; Heidbreder, Anna; Ferini-Strambi, Luigi; Dijkstra, Femke; Viaene, Mineke; Abril, Beatriz; Boeve, Bradley F; 23andMe Research Team; Scholz, Sonja W; Ryten, Mina; Bandres-Ciga, Sara; Noyce, Alastair; Cannon, Paul; Pihlstrøm, Lasse; Nalls, Mike A; Singleton, Andrew B; Rouleau, Guy A; Postuma, Ronald B; Gan-Or, Ziv; - view fewer (2022) Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects. Nature Communications , 13 , Article 7496. 10.1038/s41467-022-34732-5.

Lee, Eun Jeong; Saraiva, Luis R; Hanchate, Naresh K; Ye, Xiaolan; Asher, Gregory; Ho, Jonathan; Buck, Linda B; (2022) Odor blocking of stress hormone responses. Scientific Reports , 12 (1) , Article 8773. 10.1038/s41598-022-12663-x.

Lewis, Celine; Buchanan, James; Clarke, Angus; Clement, Emma; Friedrich, Bettina; Hastings-Ward, Jillian; Hill, Melissa; ... Lakhanpaul, Monica; + view all Lewis, Celine; Buchanan, James; Clarke, Angus; Clement, Emma; Friedrich, Bettina; Hastings-Ward, Jillian; Hill, Melissa; Horn, Ruth; Lucassen, Anneke M; Patch, Chris; Pickard, Alexandra; Roberts, Lauren; Sanderson, Saskia C; Wynn, Sarah L; Vindrola-Padros, Cecilia; Lakhanpaul, Monica; - view fewer (2022) Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol. NIHR Open Research , 1 , Article 23. 10.3310/nihropenres.13236.2.

Lobanov, Sergey V; McAllister, Branduff; McDade-Kumar, Mia; Landwehrmeyer, G Bernhard; Orth, Michael; Rosser, Anne E; REGISTRY Investigators of the European Huntington’s disease netw; ... Jones, Lesley; + view all Lobanov, Sergey V; McAllister, Branduff; McDade-Kumar, Mia; Landwehrmeyer, G Bernhard; Orth, Michael; Rosser, Anne E; REGISTRY Investigators of the European Huntington’s disease netw; Paulsen, Jane S; PREDICT-HD Investigators of the Huntington Study Group; Lee, Jong-Min; MacDonald, Marcy E; Gusella, James F; Long, Jeffrey D; Ryten, Mina; Williams, Nigel M; Holmans, Peter; Massey, Thomas H; Jones, Lesley; - view fewer (2022) Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1. npj Genomic Medicine , 7 (1) , Article 53. 10.1038/s41525-022-00317-w.

Lopez-Fabuel, Irene; Garcia-Macia, Marina; Buondelmonte, Costantina; Burmistrova, Olga; Bonora, Nicolo; Alonso-Batan, Paula; Morant-Ferrando, Brenda; ... Bolaños, Juan P; + view all Lopez-Fabuel, Irene; Garcia-Macia, Marina; Buondelmonte, Costantina; Burmistrova, Olga; Bonora, Nicolo; Alonso-Batan, Paula; Morant-Ferrando, Brenda; Vicente-Gutierrez, Carlos; Jimenez-Blasco, Daniel; Quintana-Cabrera, Ruben; Fernandez, Emilio; Llop, Jordi; Ramos-Cabrer, Pedro; Sharaireh, Aseel; Guevara-Ferrer, Marta; Fitzpatrick, Lorna; Thompton, Christopher D; McKay, Tristan R; Storch, Stephan; Medina, Diego L; Mole, Sara E; Fedichev, Peter O; Almeida, Angeles; Bolaños, Juan P; - view fewer (2022) Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis. Nature Communications , 13 , Article 536. 10.1038/s41467-022-28191-1.

Macken, William L; Falabella, Micol; McKittrick, Caroline; Pizzamiglio, Chiara; Ellmers, Rebecca; Eggleton, Kelly; Woodward, Cathy E; ... Pitceathly, Robert DS; + view all Macken, William L; Falabella, Micol; McKittrick, Caroline; Pizzamiglio, Chiara; Ellmers, Rebecca; Eggleton, Kelly; Woodward, Cathy E; Patel, Yogen; Labrum, Robyn; Genomics England Research Consortium; Phadke, Rahul; Reilly, Mary M; DeVile, Catherine; Sarkozy, Anna; Footitt, Emma; Davison, James; Rahman, Shamima; Houlden, Henry; Bugiardini, Enrico; Quinlivan, Rosaline; Hanna, Michael G; Vandrovcova, Jana; Pitceathly, Robert DS; - view fewer (2022) Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing. Nature Communications , 13 , Article 6324. 10.1038/s41467-022-32908-7.

Maharaj, Avinaash; Güran, Tülay; Buonocore, Federica; Achermann, John C; Metherell, Louise; Prasad, Rathi; Çetinkaya, Semra; (2022) Insights from long term follow-up of a girl with adrenal insufficiency and sphingosine-1-phosphate lyase deficiency. Journal of the Endocrine Society 10.1210/jendso/bvac020. (In press).

Maharaj, Avinaash; Kwong, Ruth; Williams, Jack; Smith, Christopher; Storr, Helen; Krone, Ruth; Braslavsky, Debora; ... Prasad, Rathi; + view all Maharaj, Avinaash; Kwong, Ruth; Williams, Jack; Smith, Christopher; Storr, Helen; Krone, Ruth; Braslavsky, Debora; Clemente, Maria; Ram, Nanik; Banerjee, Indraneel; Çetinkaya, Semra; Buonocore, Federica; Güran, Tülay; Achermann, John C; Metherell, Louise; Prasad, Rathi; - view fewer (2022) A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review. Endocrine Connections , 11 (8) , Article e220250. 10.1530/EC-22-0250.

Maniatis, Aristides K; Carakushansky, Mauri; Galcheva, Sonya; Prakasam, Gnanagurudasan; Fox, Larry A; Dankovcikova, Adriana; Loftus, Jane; ... Lebl, Jan; + view all Maniatis, Aristides K; Carakushansky, Mauri; Galcheva, Sonya; Prakasam, Gnanagurudasan; Fox, Larry A; Dankovcikova, Adriana; Loftus, Jane; Palladino, Andrew A; De Los Angeles Resa, Maria; Turich Taylor, Carrie; Dattani, Mehul T; Lebl, Jan; - view fewer (2022) Treatment Burden of Weekly Somatrogon vs Daily Somatropin in Children With Growth Hormone Deficiency: A Randomized Study. Journal of the Endocrine Society , 6 (10) , Article bvac117. 10.1210/jendso/bvac117.

McGlacken-Byrne, Sinéad M; Achermann, John C; Conway, Gerard S; (2022) Management of a girl with delayed puberty and elevated gonadotropins. Journal of the Endocrine Society , Article bvac108. 10.1210/jendso/bvac108. (In press).

McGlacken-Byrne, Sinead M; del Valle, Ignacio; Stabej, Polona Le Quesne; Bellutti, Laura; Garcia-Alonso, Luz; Ocaka, Louise A; Ishida, Miho; ... Achermann, John C; + view all McGlacken-Byrne, Sinead M; del Valle, Ignacio; Stabej, Polona Le Quesne; Bellutti, Laura; Garcia-Alonso, Luz; Ocaka, Louise A; Ishida, Miho; Suntharalingham, Jenifer P; Gagunashvili, Andrey; Ogunbiyi, Olumide K; Mistry, Talisa; Buonocore, Federica; Crespo, Berta; Moreno, Nadjeda; Niola, Paola; Brooks, Tony; Brain, Caroline E; Dattani, Mehul T; Kelberman, Daniel; Vento-Tormo, Roser; Lagos, Carlos F; Livera, Gabriel; Conway, Gerard S; Achermann, John C; - view fewer (2022) Pathogenic variants in the human m(6)A reader YTHDC2 are associated with primary ovarian insufficiency. JCI Insight , 7 (5) , Article e154671. 10.1172/jci.insight.154671.

McGlacken-Byrne, SM; Abdelmaksoud, A; Haini, M; Palm, L; Ashworth, M; Li, J; Wang, W; ... Dattani, MT; + view all McGlacken-Byrne, SM; Abdelmaksoud, A; Haini, M; Palm, L; Ashworth, M; Li, J; Wang, W; Wang, X; Wang, J; Callaghan, B; Kinsler, VA; Faravelli, F; Dattani, MT; - view fewer (2022) Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing’s syndrome and acral cutaneous mucinosis. European Journal of Endocrinology , 187 (6) K55-K61. 10.1530/EJE-22-0287.

McShane, Annie; Mole, Sara E; (2022) Sex bias and omission exists in Batten disease research: Systematic review of the use of animal disease models. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease , 1868 (11) , Article 166489. 10.1016/j.bbadis.2022.166489.

Mellis, R; Eberhardt, RY; Hamilton, SJ; McMullan, DJ; Kilby, MD; Maher, ER; Hurles, ME; ... Chitty, LS; + view all Mellis, R; Eberhardt, RY; Hamilton, SJ; McMullan, DJ; Kilby, MD; Maher, ER; Hurles, ME; Giordano, JL; Aggarwal, V; Goldstein, DB; Wapner, RJ; Chitty, LS; - view fewer (2022) Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it? BJOG: An International Journal of Obstetrics & Gynaecology , 129 (1) pp. 52-61. 10.1111/1471-0528.16869.

Mellis, Rhiannon; Oprych, Kathryn; Scotchman, Elizabeth; Hill, Melissa; Chitty, Lyn S; (2022) Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis. Prenatal Diagnosis , 42 (6) pp. 662-685. 10.1002/pd.6115.

Mellis, Rhiannon; Tapon, Dagmar; Shannon, Nora; Dempsey, Esther; Pandya, Pranav; Chitty, Lyn S; Hill, Melissa; (2022) Implementing a rapid fetal exome sequencing service: What do parents and health professionals think? Prenatal Diagnosis , 42 (6) pp. 783-795. 10.1002/pd.6140.

Meng, Jinhong; Moore, Marc; Counsell, John; Muntoni, Francesco; Popplewell, Linda; Morgan, Jennifer; (2022) Optimized lentiviral vector for restoration of full-length dystrophin via a cell-mediated approach in a mouse model of Duchenne muscular dystrophy. Molecular Therapy: Methods & Clinical Development 10.1016/j.omtm.2022.04.015. (In press).

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Mitchison, HM; Smedley, D; (2022) Primary ciliary dyskinesia: a big data genomics approach. The Lancet Respiratory Medicine , 10 (5) pp. 423-425. 10.1016/S2213-2600(22)00009-1.

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Nickbakhsh, S; Hughes, J; Christofidis, N; Griffiths, E; Shaaban, S; Enright, J; Smollett, K; ... Simpson, DA; + view all Nickbakhsh, S; Hughes, J; Christofidis, N; Griffiths, E; Shaaban, S; Enright, J; Smollett, K; Nomikou, K; Palmalux, N; Tong, L; Carmichael, S; Sreenu, VB; Orton, R; Goldstein, EJ; Tomb, RM; Robson, SC; Connor, TR; Loman, NJ; Golubchik, T; Nunez, RTM; Bonsall, D; Rambaut, A; Snell, LB; Livett, R; Ludden, C; Corden, S; Nastouli, E; Nebbia, G; Johnston, I; Lythgoe, K; Torok, ME; Goodfellow, IG; Prieto, JA; Saeed, K; Jackson, DK; Houlihan, C; Frampton, D; Hamilton, WL; Witney, AA; Bucca, G; Pope, CF; Moore, C; Thomson, EC; Harrison, EM; Smith, CP; Rogan, F; Beckwith, SM; Murray, A; Singleton, D; Eastick, K; Sheridan, LA; Randell, P; Jackson, LM; Ariani, CV; Gonçalves, S; Fairley, DJ; Loose, MW; Watkins, J; Moses, S; Nicholls, S; Bull, M; Amato, R; Smith, DL; Aanensen, DM; Barrett, JC; Aggarwal, D; Shepherd, JG; Curran, MD; Parmar, S; Parker, MD; Williams, C; Glaysher, S; Underwood, AP; Bashton, M; Pacchiarini, N; Loveson, KF; Byott, M; Carabelli, AM; Templeton, KE; de Silva, TI; Wang, D; Langford, CF; Sillitoe, J; Gunson, RN; Cottrell, S; O’Grady, J; Kwiatkowski, D; Lillie, PJ; Cortes, N; Moore, N; Thomas, C; Burns, PJ; Mahungu, TW; Liggett, S; Beckett, AH; Holden, MTG; Levett, LJ; Osman, H; Hassan-Ibrahim, MO; Simpson, DA; - view fewer (2022) Genomic epidemiology of SARS-CoV-2 in a university outbreak setting and implications for public health planning. Scientific Reports , 12 , Article 11735. 10.1038/s41598-022-15661-1.

Ortiz, Arturo Torres; Kendall, Michelle; Storey, Nathaniel; Hatcher, James; Dunn, Helen; Roy, Sunando; Williams, Rachel; ... Grandjean, Louis; + view all Ortiz, Arturo Torres; Kendall, Michelle; Storey, Nathaniel; Hatcher, James; Dunn, Helen; Roy, Sunando; Williams, Rachel; Williams, Charlotte; Goldstein, Richard A; Didelot, Xavier; Harris, Kathryn; Breuer, Judith; Grandjean, Louis; - view fewer (2022) Within-host diversity improves phylogenetic and transmission reconstruction of SARS-CoV-2 outbreaks. BioRxiv: Cold Spring Harbor, NY, USA.

Owen, N; Toms, M; Young, RM; Eintracht, J; Sarkar, H; Brooks, BP; Moosajee, M; ... Zarowiecki, M; + view all Owen, N; Toms, M; Young, RM; Eintracht, J; Sarkar, H; Brooks, BP; Moosajee, M; Ambrose, JC; Baple, EL; Bleda, M; Boardman-Pretty, F; Boissiere, JM; Boustred, CR; Caulfield, MJ; Chan, GC; Craig, CEH; Daugherty, LC; de, BA; Devereau, A; Elgar, G; Foulger, RE; Fowler, T; Furió-Tarí, P; Hackett, JM; Halai, D; Holman, JE; Hubbard, TJP; Jackson, R; Kasperaviciute, D; Kayikci, M; Lahnstein, L; Lawson, K; Leigh, SEA; Leong, IUS; Lopez, FJ; Maleady-Crowe, F; Mason, J; McDonagh, EM; Moutsianas, L; Mueller, M; Murugaesu, N; Need, AC; Odhams, CA; Patch, C; Perez-Gil, D; Polychronopoulos, D; Pullinger, J; Rahim, T; Rendon, A; Riesgo-Ferreiro, P; Rogers, T; Ryten, M; Savage, K; Sawant, K; Scott, RH; Siddiq, A; Sieghart, A; Smedley, D; Smith, KR; Sosinsky, A; Spooner, W; Stevens, HE; Stuckey, A; Sultana, R; Thomas, ERA; Thompson, SR; Tregidgo, C; Tucci, A; Walsh, E; Watters, SA; Welland, MJ; Williams, E; Witkowska, K; Wood, SM; Zarowiecki, M; - view fewer (2022) Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis. Genetics in Medicine 10.1016/j.gim.2021.12.014. (In press).

Papandreou, Apostolos; Doykov, Ivan; Spiewak, Justyna; Komarov, Nikita; Habermann, Stephanie; Kurian, Manju A; Mills, Philippa B; ... Clinical cohort recruitment and characterization group, .; + view all Papandreou, Apostolos; Doykov, Ivan; Spiewak, Justyna; Komarov, Nikita; Habermann, Stephanie; Kurian, Manju A; Mills, Philippa B; Mills, Kevin; Gissen, Paul; Heywood, Wendy E; Clinical cohort recruitment and characterization group, .; - view fewer (2022) Niemann–Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders. Developmental Medicine & Child Neurology 10.1111/dmcn.15334. (In press).

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Peter, Michelle; Hammond, Jennifer; Sanderson, Saskia C; Gurasashvili, Jana; Hunter, Amy; Searle, Beverly; Patch, Christine; ... Lewis, Celine; + view all Peter, Michelle; Hammond, Jennifer; Sanderson, Saskia C; Gurasashvili, Jana; Hunter, Amy; Searle, Beverly; Patch, Christine; Chitty, Lyn S; Hill, Melissa; Lewis, Celine; - view fewer (2022) Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study. European Journal of Human Genetics 10.1038/s41431-022-01065-2.

Polubothu, Satyamaanasa; Bender, Nicole; Muthiah, Siobhan; Zecchin, Davide; Demetriou, Charalambos; Martin, Sara Barberan; Malhotra, Sony; ... Kinsler, Veronica A; + view all Polubothu, Satyamaanasa; Bender, Nicole; Muthiah, Siobhan; Zecchin, Davide; Demetriou, Charalambos; Martin, Sara Barberan; Malhotra, Sony; Travnickova, Jana; Zeng, Zhiqiang; Böhm, Markus; Barbarot, Sebastien; Cottrell, Catherine; Davies, Olivia; Baselga, Eulalia; Burrows, Nigel P; Carmignac, Virginie; Diaz, Joey Santiago; Fink, Christine; Haenssle, Holger A; Happle, Rudolf; Harland, Mark; Majerowski, Jacqueline; Vabres, Pierre; Vincent, Marie; Newton-Bishop, Julia A; Bishop, D Tim; Siegel, Dawn; Patton, E Elizabeth; Topf, Maya; Rajan, Neil; Drolet, Beth; Kinsler, Veronica A; - view fewer (2022) PTPN11 mosaicism causes a spectrum of pigmentary and vascular neurocutaneous disorders and predisposes to melanoma. Journal of Investigative Dermatology 10.1016/j.jid.2022.09.661. (In press).

Rahman, Shamima; Baumgartner, Matthias; Morava, Eva; Patterson, Marc; Peters, Verena; Zschocke, Johannes; (2022) Quo vadis now: Beyond genomics to an era of personalised medicine. Journal of Inherited Metabolic Disease , 45 (2) pp. 129-131. 10.1002/jimd.12487.

Real, Raquel; Martinez-Carrasco, Alejandro; Reynolds, Regina H; Lawton, Michael A; Tan, Manuela MX; Shoai, Maryam; Corvol, Jean-Christophe; ... Morris, Huw R; + view all Real, Raquel; Martinez-Carrasco, Alejandro; Reynolds, Regina H; Lawton, Michael A; Tan, Manuela MX; Shoai, Maryam; Corvol, Jean-Christophe; Ryten, Mina; Bresner, Catherine; Hubbard, Leon; Brice, Alexis; Lesage, Suzanne; Faouzi, Johann; Elbaz, Alexis; Artaud, Fanny; Williams, Nigel; Hu, Michele TM; Ben-Shlomo, Yoav; Grosset, Donald G; Hardy, John; Morris, Huw R; - view fewer (2022) Association between the LRP1B and APOE loci in the development of Parkinson's disease dementia. Brain , Article awac414. 10.1093/brain/awac414. (In press).

Schreglmann, Sebastian R; Burke, Derek; Batla, Amit; Kresojevic, Nikola; Wood, Nicholas; Heales, Simon; Bhatia, Kailash P; (2022) Cerebellar and Midbrain Lysosomal Enzyme Deficiency in Isolated Dystonia. Movement Disorders , 37 (4) , Article e28937. 10.1002/mds.28937.

Schultz, Ruediger; Elenius, Varpu; Fassad, Mahmoud R; Freke, Grace; Rogers, Andrew; Shoemark, Amelia; Koistinen, Tiina; ... Sironen, Anu I; + view all Schultz, Ruediger; Elenius, Varpu; Fassad, Mahmoud R; Freke, Grace; Rogers, Andrew; Shoemark, Amelia; Koistinen, Tiina; Mohamed, Mai A; Lim, Jacqueline SY; Mitchison, Hannah M; Sironen, Anu I; - view fewer (2022) CFAP300 mutation causing primary ciliary dyskinesia in Finland. Frontiers in Genetics , 13 , Article 985227. 10.3389/fgene.2022.985227.

Seker Yilmaz, Berna; Baruteau, Julien; Arslan, Nur; Aydin, Halil Ibrahim; Barth, Magalie; Bozaci, Ayse Ergul; Brassier, Anais; ... Gissen, Paul; + view all Seker Yilmaz, Berna; Baruteau, Julien; Arslan, Nur; Aydin, Halil Ibrahim; Barth, Magalie; Bozaci, Ayse Ergul; Brassier, Anais; Canda, Ebru; Cano, Aline; Chronopoulou, Efstathia; Connolly, Grainne M; Damaj, Lena; Dawson, Charlotte; Dobbelaere, Dries; Douillard, Claire; Eminoglu, Fatma Tuba; Erdol, Sahin; Ersoy, Melike; Fang, Sherry; Feillet, François; Gokcay, Gulden; Goksoy, Emine; Gorce, Magali; Inci, Asli; Kadioglu, Banu; Kardas, Fatih; Kasapkara, Cigdem Seher; Kilic Yildirim, Gonca; Kor, Deniz; Kose, Melis; Marelli, Cecilia; Mundy, Helen; O’Sullivan, Siobhan; Ozturk Hismi, Burcu; Ramachandran, Radha; Roubertie, Agathe; Sanlilar, Mehtap; Schiff, Manuel; Sreekantam, Srividya; Stepien, Karolina M; Uzun Unal, Ozlem; Yildiz, Yilmaz; Zubarioglu, Tanyel; Gissen, Paul; - view fewer (2022) Three-Country Snapshot of Ornithine Transcarbamylase Deficiency. Life , 12 (11) , Article 1721. 10.3390/life12111721.

Sethi, Siddharth; Zhang, David; Guelfi, Sebastian; Chen, Zhongbo; Garcia-Ruiz, Sonia; Olagbaju, Emmanuel O; Ryten, Mina; ... Botia, Juan A; + view all Sethi, Siddharth; Zhang, David; Guelfi, Sebastian; Chen, Zhongbo; Garcia-Ruiz, Sonia; Olagbaju, Emmanuel O; Ryten, Mina; Saini, Harpreet; Botia, Juan A; - view fewer (2022) Leveraging omic features with F3UTER enables identification of unannotated 3'UTRs for synaptic genes. Nature Communications , 13 , Article 2270. 10.1038/s41467-022-30017-z.

Shariq, OA; Lines, KE; English, KA; Jafar-Mohammadi, B; Prentice, P; Casey, R; Challis, BG; ... Thakker, RV; + view all Shariq, OA; Lines, KE; English, KA; Jafar-Mohammadi, B; Prentice, P; Casey, R; Challis, BG; Selberherr, A; Boon, H; Cranston, T; Ryan, FJ; Mihai, R; Healy, U; Kurzawinski, T; Dattani, MT; Bancos, I; Dy, BM; Lyden, ML; Young, WF; McKenzie, TJ; Richards, D; Thakker, RV; - view fewer (2022) Multiple endocrine neoplasia type 1 in children and adolescents: Clinical features and treatment outcomes. Surgery , 171 (1) pp. 77-87. 10.1016/j.surg.2021.04.041.

Shoemark, Amelia; Griffin, Helen; Wheway, Gabrielle; Hogg, Claire; Lucas, Jane S; Genomics England Research, Consortium; Camps, Carme; ... Wood, SM; + view all Shoemark, Amelia; Griffin, Helen; Wheway, Gabrielle; Hogg, Claire; Lucas, Jane S; Genomics England Research, Consortium; Camps, Carme; Taylor, Jenny; Carroll, Mary; Loebinger, Michael R; Chalmers, James D; Morris-Rosendahl, Deborah; Mitchison, Hannah M; Brown, D; De Soyza, Anthony; Ambrose, JC; Arumugam, P; Bevers, R; Bleda, M; Boardman-Pretty, F; Boustred, CR; Brittain, H; Caulfield, MJ; Chan, GC; Fowler, T; Giess, A; Hamblin, A; Henderson, S; Hubbard, TJP; Jackson, R; Jones, LJ; Kasperaviciute, D; Kayikci, M; Kousathanas, A; Lahnstein, L; Leigh, SEA; Leong, IUS; Lopez, FJ; Maleady-Crowe, F; McEntagart, M; Minneci, F; Moutsianas, L; Mueller, M; Murugaesu, N; Need, AC; O'Donovan, P; Odhams, CA; Patch, C; Perez-Gil, D; Pereira, MB; Pullinger, J; Rahim, T; Rendon, A; Rogers, T; Savage, K; Sawant, K; Scott, RH; Siddiq, A; Sieghart, A; Smith, SC; Sosinsky, A; Stuckey, A; Tanguy, M; Taylor Tavares, AL; Thomas, ERA; Thompson, SR; Tucci, A; Welland, MJ; Williams, E; Witkowska, K; Wood, SM; - view fewer (2022) Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis. European Respiratory Journal , 60 (5) , Article 2200176. 10.1183/13993003.00176-2022.

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Soutar, Marc PM; Melandri, Daniela; O'Callaghan, Benjamin; Annuario, Emily; Monaghan, Amy E; Welsh, Natalie J; D'Sa, Karishma; ... Plun-Favreau, Hélène; + view all Soutar, Marc PM; Melandri, Daniela; O'Callaghan, Benjamin; Annuario, Emily; Monaghan, Amy E; Welsh, Natalie J; D'Sa, Karishma; Guelfi, Sebastian; Zhang, David; Pittman, Alan; Trabzuni, Daniah; Verboven, Anouk HA; Pan, Kylie S; Kia, Demis A; Bictash, Magda; Gandhi, Sonia; Houlden, Henry; Cookson, Mark R; Kasri, Nael Nadif; Wood, Nicholas W; Singleton, Andrew B; Hardy, John; Whiting, Paul J; Blauwendraat, Cornelis; Whitworth, Alexander J; Manzoni, Claudia; Ryten, Mina; Lewis, Patrick A; Plun-Favreau, Hélène; - view fewer (2022) Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci. Brain 10.1093/brain/awac325. (In press).

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Suntharalingham, Jenifer P; Ishida, Miho; Del Valle, Ignacio; Stalman, Susanne E; Solanky, Nita; Wakeling, Emma; Moore, Gudrun E; ... Buonocore, Federica; + view all Suntharalingham, Jenifer P; Ishida, Miho; Del Valle, Ignacio; Stalman, Susanne E; Solanky, Nita; Wakeling, Emma; Moore, Gudrun E; Achermann, John C; Buonocore, Federica; - view fewer (2022) Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome. Frontiers in Endocrinology , 13 , Article 953707. 10.3389/fendo.2022.953707.

Teare, H; Argente, J; Dattani, M; Leger, J; Maghnie, M; Sherlock, M; Ali, GC; ... Marjanovic, S; + view all Teare, H; Argente, J; Dattani, M; Leger, J; Maghnie, M; Sherlock, M; Ali, GC; Francombe, J; Marjanovic, S; - view fewer (2022) Challenges and improvement needs in the care of patients with central diabetes insipidus. Orphanet journal of rare diseases , 17 (1) , Article 58. 10.1186/s13023-022-02191-2.

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Venturini, Cristina; Colston, Julia; Charles, Oscar; Best, Timothy; Atkinson, Claire; Forrest, Calum; Williams, Charlotte; ... Breuer, Judith; + view all Venturini, Cristina; Colston, Julia; Charles, Oscar; Best, Timothy; Atkinson, Claire; Forrest, Calum; Williams, Charlotte; Rao, Kanchan; Worth, Austen; Thorburn, Doug; Harber, Mark; Griffiths, Paul; Breuer, Judith; - view fewer (2022) Persistent low-level variants in a subset of HCMV genes are highly predictive of poor outcome in immunocompromised patients with cytomegalovirus infection. MedRxiv: Cold Spring Harbor, NY, USA.

Vindrola-Padros, Cecilia; Ledger, Jean; Hill, Melissa; Tomini, Sonila; Spencer, Jonathan; Fulop, Naomi J; (2022) The Special Measures for Quality and Challenged Provider Regimes in the English NHS: A Rapid Evaluation of a National Improvement Initiative for Failing Healthcare Organisations. International Journal of Health Policy and Management 10.34172/ijhpm.2022.6619. (In press).

Wahedi, Azizia; Soondram, Chandika; Murphy, Alan E; Skene, Nathan; Rahman, Shamima; (2022) Transcriptomic analyses reveal neuronal specificity of Leigh syndrome associated genes. Journal of Inherited Metabolic Disease 10.1002/jimd.12578. (In press).

Whittle, Ella F; Chilian, Madison; Karimiani, Ehsan Ghayoor; Progri, Helga; Buhas, Daniela; Kose, Melis; Ganetzky, Rebecca D; ... Carroll, Christopher J; + view all Whittle, Ella F; Chilian, Madison; Karimiani, Ehsan Ghayoor; Progri, Helga; Buhas, Daniela; Kose, Melis; Ganetzky, Rebecca D; Toosi, Mehran Beiraghi; Torbati, Paria Najarzadeh; Badv, Reza Shervin; Shelihan, Ivan; Yang, Hui; Elloumi, Houda Zghal; Lee, Sukyeong; Jamshidi, Yalda; Pittman, Alan M; Houlden, Henry; Ignatius, Erika; Rahman, Shamima; Maroofian, Reza; Yoon, Wan Hee; Carroll, Christopher J; - view fewer (2022) Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities. Genetics in Medicine 10.1016/j.gim.2022.11.001. (In press).

Wilkinson, Meredyth G Ll; Moulding, Dale; McDonnell, Thomas CR; Orford, Michael; Wincup, Chris; Ting, Joanna YJ; Otto, Georg W; ... Wedderburn, Lucy R; + view all Wilkinson, Meredyth G Ll; Moulding, Dale; McDonnell, Thomas CR; Orford, Michael; Wincup, Chris; Ting, Joanna YJ; Otto, Georg W; Restuadi, Restuadi; Kelberman, Daniel; Papadopoulou, Charalampia; Castellano, Sergi; Eaton, Simon; Deakin, Claire T; Rosser, Elizabeth C; Wedderburn, Lucy R; - view fewer (2022) Role of CD14+ monocyte-derived oxidised mitochondrial DNA in the inflammatory interferon type 1 signature in juvenile dermatomyositis. Annals of the Rheumatic Diseases 10.1136/ard-2022-223469. (In press).

Willett, BJ; Grove, J; MacLean, OA; Wilkie, C; De Lorenzo, G; Furnon, W; Cantoni, D; ... Thomson, EC; + view all Willett, BJ; Grove, J; MacLean, OA; Wilkie, C; De Lorenzo, G; Furnon, W; Cantoni, D; Scott, S; Logan, N; Ashraf, S; Manali, M; Szemiel, A; Cowton, V; Vink, E; Harvey, WT; Davis, C; Asamaphan, P; Smollett, K; Tong, L; Orton, R; Hughes, J; Holland, P; Silva, V; Pascall, DJ; Puxty, K; Da Silva Filipe, A; Yebra, G; Shaaban, S; Holden, MTG; Pinto, RM; Gunson, R; Templeton, K; Murcia, PR; Patel, AH; Klenerman, P; Dunachie, S; PITCH Consortium; The COVID-19 Genomics UK (COG-UK) Consortium; Haughney, J; Robertson, DL; Palminari, M; Ray, S; Thomson, EC; - view fewer (2022) SARS-CoV-2 Omicron is an immune escape variant with an altered cell entry pathway. Nature Microbiology 10.1038/s41564-022-01143-7. (In press).

Wright, DW; Harvey, WT; Hughes, J; Cox, M; Peacock, TP; Colquhoun, R; Jackson, B; ... Hassan-Ibrahim, MO; + view all Wright, DW; Harvey, WT; Hughes, J; Cox, M; Peacock, TP; Colquhoun, R; Jackson, B; Orton, R; Nielsen, M; Hsu, NS; Harrison, EM; de Silva, TI; Rambaut, A; Peacock, SJ; Robertson, DL; Carabelli, AM; Robson, SC; Connor, TR; Loman, NJ; Golubchik, T; Martinez Nunez, RT; Bonsall, D; Rambaut, A; Snell, LB; Livett, R; Ludden, C; Corden, S; Nastouli, E; Nebbia, G; Johnston, I; Lythgoe, K; Torok, ME; Goodfellow, IG; Prieto, JA; Saeed, K; Jackson, DK; Houlihan, C; Frampton, D; Hamilton, WL; Witney, AA; Bucca, G; Pope, CF; Moore, C; Thomson, EC; Harrison, EM; Smith, CP; Rogan, F; Beckwith, SM; Murray, A; Singleton, D; Eastick, K; Sheridan, LA; Randell, P; Jackson, LM; Ariani, CV; Gonçalves, S; Fairley, DJ; Loose, MW; Watkins, J; Moses, S; Nicholls, S; Bull, M; Amato, R; Smith, DL; Aanensen, DM; Barrett, JC; Aggarwal, D; Shepherd, JG; Curran, MD; Parmar, S; Parker, MD; Williams, C; Glaysher, S; Underwood, AP; Bashton, M; Pacchiarini, N; Loveson, KF; Byott, M; Carabelli, AM; Templeton, KE; Wang, D; Langford, CF; Sillitoe, J; Gunson, RN; Cottrell, S; O'Grady, J; Kwiatkowski, D; Lillie, PJ; Cortes, N; Moore, N; Thomas, C; Burns, PJ; Mahungu, TW; Liggett, S; Beckett, AH; Holden, MTG; Levett, LJ; Osman, H; Hassan-Ibrahim, MO; - view fewer (2022) Tracking SARS-CoV-2 mutations and variants through the COG-UK-Mutation Explorer. Virus Evolution , 8 (1) , Article veac023. 10.1093/ve/veac023.

Yeo, M; Rehsi, P; Dorman, M; Grunewald, S; Baruteau, J; Chakrapani, A; Footitt, E; ... McSweeney, M; + view all Yeo, M; Rehsi, P; Dorman, M; Grunewald, S; Baruteau, J; Chakrapani, A; Footitt, E; Prunty, H; McSweeney, M; - view fewer (2022) Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders. JIMD Reports , 63 (2) pp. 137-145. 10.1002/jmd2.12274.

Zago, E; Dal Molin, A; Dimitri, GM; Xumerle, L; Pirazzini, C; Bacalini, MG; Maturo, MG; ... Williams, D; + view all Zago, E; Dal Molin, A; Dimitri, GM; Xumerle, L; Pirazzini, C; Bacalini, MG; Maturo, MG; Azevedo, T; Spasov, S; Gómez-Garre, P; Periñán, MT; Jesús, S; Baldelli, L; Sambati, L; Calandra-Buonaura, G; Garagnani, P; Provini, F; Cortelli, P; Mir, P; Trenkwalder, C; Mollenhauer, B; Franceschi, C; Liò, P; Nardini, C; Adarmes-Gómez, A; Azevedo, T; Bacalini, MG; Bartoletti-Stella, A; Bhatia, KP; Marta, BT; Boninsegna, C; Broli, M; Dolores, BR; Calandra-Buonaura, G; Capellari, S; Carrión-Claro, M; Cilea, R; Clayton, R; Cortelli, P; Molin, AD; De Luca, S; De Massis, P; Doykov, I; Escuela-Martin, R; Fabbri, G; Franceschi, C; Gabellini, A; Garagnani, P; Giuliani, C; Gómez-Garre, P; Guaraldi, P; Hägg, S; Hällqvist, J; Halsband, C; Heywood, W; Houlden, H; Huertas, I; Jesús, S; Jylhävä, J; Labrador-Espinosa, MA; Licari, C; Liò, P; Luchinat, C; Macias, D; Macrì, S; Magrinelli, F; Rodríguez, JFM; Massimo, D; Mengozzi, G; Meoni, G; Mignani, F; Milazzo, M; Mills, K; Mir, P; Mollenhauer, B; Nardini, C; Nassetti, SA; Pedersen, NL; Periñán-Tocino, MT; Pirazzini, C; Provini, F; Ravaioli, F; Sala, C; Scaglione, CLM; Schade, S; Schreglmann, S; Spasov, S; Strom, S; Tejera-Parrado, C; Tenori, L; Trenkwalder, C; Turano, P; Valzania, F; Ortega, RV; Williams, D; - view fewer (2022) Early downregulation of hsa-miR-144-3p in serum from drug-naïve Parkinson’s disease patients. Scientific Reports , 12 , Article 1330. 10.1038/s41598-022-05227-6.

Zaharieva, Irina T; Scoto, Mariacristina; Aragon‐Gawinska, Karolina; Ridout, Deborah; Doreste, Bruno; Servais, Laurent; Muntoni, Francesco; Zaharieva, Irina T; Scoto, Mariacristina; Aragon‐Gawinska, Karolina; Ridout, Deborah; Doreste, Bruno; Servais, Laurent; Muntoni, Francesco; Zhou, Haiyan; - view fewer (2022) Response of plasma microRNAs to nusinersen treatment in patients with SMA. Annals of Clinical and Translational Neurology 10.1002/acn3.51579.

Zhou, Haiyan; Hong, Ying; Scoto, Mariacristina; Thomson, Alison; Pead, Emma; MacGillivray, Tom; Hernandez-Gerez, Elena; ... Muntoni, Francesco; + view all Zhou, Haiyan; Hong, Ying; Scoto, Mariacristina; Thomson, Alison; Pead, Emma; MacGillivray, Tom; Hernandez-Gerez, Elena; Catapano, Francesco; Meng, Jinhong; Zhang, Qiang; Hunter, Gillian; Shorrock, Hannah K; Ng, Thomas K; Hamida, Abedallah; Sanson, Mathilde; Baranello, Giovanni; Howell, Kevin; Gillingwater, Thomas H; Brogan, Paul; Thompson, Dorothy A; Parson, Simon H; Muntoni, Francesco; - view fewer (2022) Microvasculopathy in SMA is driven by a reversible autonomous endothelial cell defect. Journal of Clinical Investigation , 132 (21) , Article e153430. 10.1172/JCI153430.

2021

100,000 Genomes Project Pilot Investigators; Smedley, D; Smith, KR; Martin, A; Thomas, EA; McDonagh, EM; Cipriani, V; ... Caulfield, M; + view all 100,000 Genomes Project Pilot Investigators; Smedley, D; Smith, KR; Martin, A; Thomas, EA; McDonagh, EM; Cipriani, V; Ellingford, JM; Arno, G; Tucci, A; Vandrovcova, J; Chan, G; Williams, HJ; Ratnaike, T; Wei, W; Stirrups, K; Ibanez, K; Moutsianas, L; Wielscher, M; Need, A; Barnes, MR; Vestito, L; Buchanan, J; Wordsworth, S; Ashford, S; Rehmström, K; Li, E; Fuller, G; Twiss, P; Spasic-Boskovic, O; Halsall, S; Floto, RA; Poole, K; Wagner, A; Mehta, SG; Gurnell, M; Burrows, N; James, R; Penkett, C; Dewhurst, E; Gräf, S; Mapeta, R; Kasanicki, M; Haworth, A; Savage, H; Babcock, M; Reese, MG; Bale, M; Baple, E; Boustred, C; Brittain, H; de Burca, A; Bleda, M; Devereau, A; Halai, D; Haraldsdottir, E; Hyder, Z; Kasperaviciute, D; Patch, C; Polychronopoulos, D; Matchan, A; Sultana, R; Ryten, M; Tavares, ALT; Tregidgo, C; Turnbull, C; Welland, M; Wood, S; Snow, C; Williams, E; Leigh, S; Foulger, RE; Daugherty, LC; Niblock, O; Leong, IUS; Wright, CF; Davies, J; Crichton, C; Welch, J; Woods, K; Abulhoul, L; Aurora, P; Bockenhauer, D; Broomfield, A; Cleary, MA; Lam, T; Dattani, M; Footitt, E; Ganesan, V; Grunewald, S; Compeyrot-Lacassagne, S; Muntoni, F; Pilkington, C; Quinlivan, R; Thapar, N; Wallis, C; Wedderburn, LR; Worth, A; Bueser, T; Compton, C; Deshpande, C; Fassihi, H; Haque, E; Izatt, L; Josifova, D; Mohammed, S; Robert, L; Rose, S; Ruddy, D; Sarkany, R; Say, G; Shaw, AC; Wolejko, A; Habib, B; Burns, G; Hunter, S; Grocock, RJ; Humphray, SJ; Robinson, PN; Haendel, M; Simpson, MA; Banka, S; Clayton-Smith, J; Douzgou, S; Hall, G; Thomas, HB; O'Keefe, RT; Michaelides, M; Moore, AT; Malka, S; Pontikos, N; Browning, AC; Straub, V; Gorman, GS; Horvath, R; Quinton, R; Schaefer, AM; Yu-Wai-Man, P; Turnbull, DM; McFarland, R; Taylor, RW; O'Connor, E; Yip, J; Newland, K; Morris, HR; Polke, J; Wood, NW; Campbell, C; Camps, C; Gibson, K; Koelling, N; Lester, T; Németh, AH; Palles, C; Patel, S; Roy, NBA; Sen, A; Taylor, J; Cacheiro, P; Jacobsen, JO; Seaby, EG; Davison, V; Chitty, L; Douglas, A; Naresh, K; McMullan, D; Ellard, S; Temple, IK; Mumford, AD; Wilson, G; Beales, P; Bitner-Glindzicz, M; Black, G; Bradley, JR; Brennan, P; Burn, J; Chinnery, PF; Elliott, P; Flinter, F; Houlden, H; Irving, M; Newman, W; Rahman, S; Sayer, JA; Taylor, JC; Webster, AR; Wilkie, AOM; Ouwehand, WH; Raymond, FL; Chisholm, J; Hill, S; Bentley, D; Scott, RH; Fowler, T; Rendon, A; Caulfield, M; - view fewer (2021) 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report. New England Journal of Medicine , 385 (20) pp. 1868-1880. 10.1056/NEJMoa2035790.

Abdel-Khalik, J; Hearn, T; Dickson, AL; Crick, PJ; Yutuc, E; Austin-Muttit, K; Bigger, BW; ... Wang, Y; + view all Abdel-Khalik, J; Hearn, T; Dickson, AL; Crick, PJ; Yutuc, E; Austin-Muttit, K; Bigger, BW; Morris, AA; Shackleton, CH; Clayton, PT; Iida, T; Sircar, R; Rohatgi, R; Marschall, H-U; Sjövall, J; Björkhem, I; Mullins, JGL; Griffiths, WJ; Wang, Y; - view fewer (2021) Bile Acid Biosynthesis in Smith-Lemli-Opitz Syndrome Bypassing Cholesterol: Potential Importance of Pathway Intermediates. The Journal of Steroid Biochemistry and Molecular Biology , 206 , Article 105794. 10.1016/j.jsbmb.2020.105794.

Ahmed, SF; Achermann, JC; Alderson, J; Crouch, NS; Elford, S; Hughes, IA; Krone, NP; ... Turner, HE; + view all Ahmed, SF; Achermann, JC; Alderson, J; Crouch, NS; Elford, S; Hughes, IA; Krone, NP; McGowan, R; Mushtaq, T; O'Toole, S; Perry, L; Rodie, ME; Skae, M; Turner, HE; - view fewer (2021) Society for Endocrinology UK Guidance On The Initial Evaluation Of A Suspected Difference or Disorder Of Sex Development (DSD) (Revised 2021). Clinical Endocrinology , 95 (6) pp. 818-840. 10.1111/cen.14528.

Alrashidi, H; Eaton, S; Heales, S; (2021) Biochemical characterization of proliferative and differentiated SH-SY5Y cell line as a model for Parkinson’s disease. Neurochemistry International , 145 , Article 105009. 10.1016/j.neuint.2021.105009.

Altmann, A; Ryten, M; Di Nunzio, M; Ravizza, T; Tolomeo, D; Reynolds, RH; Somani, A; ... Sisodiya, SM; + view all Altmann, A; Ryten, M; Di Nunzio, M; Ravizza, T; Tolomeo, D; Reynolds, RH; Somani, A; Bacigaluppi, M; Iori, V; Micotti, E; Di Sapia, R; Cerovic, M; Palma, E; Ruffolo, G; Botía, JA; Absil, J; Alhusaini, S; Alvim, MKM; Auvinen, P; Bargallo, N; Bartolini, E; Bender, B; Bergo, FPG; Bernardes, T; Bernasconi, A; Bernasconi, N; Bernhardt, BC; Blackmon, K; Braga, B; Caligiuri, ME; Calvo, A; Carlson, C; Carr, SJ; Cavalleri, GL; Cendes, F; Chen, J; Chen, S; Cherubini, A; Concha, L; David, P; Delanty, N; Depondt, C; Devinsky, O; Doherty, CP; Domin, M; Focke, NK; Foley, S; Franca, W; Gambardella, A; Guerrini, R; Hamandi, K; Hibar, DP; Isaev, D; Jackson, GD; Jahanshad, N; Kalviainen, R; Keller, SS; Kochunov, P; Kotikalapudi, R; Kowalczyk, MA; Kuzniecky, R; Kwan, P; Labate, A; Langner, S; Lenge, M; Liu, M; Martin, P; Mascalchi, M; Meletti, S; Morita-Sherman, ME; O'Brien, TJ; Pariente, JC; Richardson, MP; Rodriguez-Cruces, R; Rummel, C; Saavalainen, T; Semmelroch, MK; Severino, M; Striano, P; Thesen, T; Thomas, RH; Tondelli, M; Tortora, D; Vaudano, AE; Vivash, L; von Podewils, F; Wagner, J; Weber, B; Wiest, R; Yasuda, CL; Zhang, G; Zhang, J; ENIGMA-Epilepsy Working Group, .; Leu, C; Avbersek, A; EpiPGX Consortium, .; Thom, M; Whelan, CD; Thompson, P; McDonald, CR; Vezzani, A; Sisodiya, SM; - view fewer (2021) A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies. Neuropathology and Applied Neurobiology 10.1111/nan.12758. (In press).

Andersen, MS; Bandres-Ciga, S; Reynolds, RH; Hardy, J; Ryten, M; Krohn, L; Gan-Or, Z; ... Pihlstrøm, L; + view all Andersen, MS; Bandres-Ciga, S; Reynolds, RH; Hardy, J; Ryten, M; Krohn, L; Gan-Or, Z; Holtman, IR; International Parkinson's Disease Genomics Consortium, ,; Pihlstrøm, L; - view fewer (2021) Heritability enrichment implicates microglia in Parkinson's disease pathogenesis. Annals of Neurology , 89 (5) pp. 942-951. 10.1002/ana.26032.

Andina, D; Belloni-Fortina, A; Bodemer, C; Bonifazi, E; Chiriac, A; Colmenero, I; Diociaiuti, A; ... ESPD Group for the Skin Manifestations of COVID-19; + view all Andina, D; Belloni-Fortina, A; Bodemer, C; Bonifazi, E; Chiriac, A; Colmenero, I; Diociaiuti, A; El-Hachem, M; Fertitta, L; van Gysel, D; Hernández-Martín, A; Hubiche, T; Luca, C; Martos-Cabrera, L; Maruani, A; Mazzotta, F; Akkaya, AD; Casals, M; Ferrando, J; Grimalt, R; Grozdev, I; Kinsler, V; Morren, MA; Munisami, M; Nanda, A; Novoa, MP; Ott, H; Pasmans, S; Salavastru, C; Zawar, V; Torrelo, A; ESPD Group for the Skin Manifestations of COVID-19; - view fewer (2021) Skin manifestations of COVID-19 in children: Part 1. Clinical and Experimental Dermatology , 46 (3) pp. 444-450. 10.1111/ced.14481.

Andina, D; Belloni-Fortina, A; Bodemer, C; Bonifazi, E; Chiriac, A; Colmenero, I; Diociaiuti, A; ... ESPD Group for the Skin Manifestations of COVID-19; + view all Andina, D; Belloni-Fortina, A; Bodemer, C; Bonifazi, E; Chiriac, A; Colmenero, I; Diociaiuti, A; El-Hachem, M; Fertitta, L; van Gysel, D; Hernández-Martín, A; Hubiche, T; Luca, C; Martos-Cabrera, L; Maruani, A; Mazzotta, F; Akkaya, AD; Casals, M; Ferrando, J; Grimalt, R; Grozdev, I; Kinsler, V; Morren, MA; Munisami, M; Nanda, A; Novoa, MP; Ott, H; Pasmans, S; Salavastru, C; Zawar, V; Torrelo, A; ESPD Group for the Skin Manifestations of COVID-19; - view fewer (2021) Skin manifestations of COVID‐19 in children: Part 2. Clinical and Experimental Dermatology , 46 (3) pp. 451-461. 10.1111/ced.14482.

Andina, D; Belloni-Fortina, A; Bodemer, C; Bonifazi, E; Chiriac, A; Colmenero, I; Diociaiuti, A; ... ESPD Group for the Skin Manifestations of COVID-19; + view all Andina, D; Belloni-Fortina, A; Bodemer, C; Bonifazi, E; Chiriac, A; Colmenero, I; Diociaiuti, A; El-Hachem, M; Fertitta, L; van Gysel, D; Hernández-Martín, A; Hubiche, T; Luca, C; Martos-Cabrera, L; Maruani, A; Mazzotta, F; Akkaya, AD; Casals, M; Ferrando, J; Grimalt, R; Grozdev, I; Kinsler, V; Morren, MA; Munisami, M; Nanda, A; Novoa, MP; Ott, H; Pasmans, S; Salavastru, C; Zawar, V; Torrelo, A; ESPD Group for the Skin Manifestations of COVID-19; - view fewer (2021) Skin manifestations of COVID‐19 in children: Part 3. Clinical and Experimental Dermatology , 46 (3) pp. 462-472. 10.1111/ced.14483.

Backeljauw, P; Cappa, M; Kiess, W; Law, L; Cookson, C; Sert, C; Whalen, J; Backeljauw, P; Cappa, M; Kiess, W; Law, L; Cookson, C; Sert, C; Whalen, J; Dattani, MT; - view fewer (2021) Impact of short stature on quality of life: A systematic literature review. Growth Hormone and IGF Research , 57-58 , Article 101392. 10.1016/j.ghir.2021.101392.

Baldelli, L; Schade, S; Jesús, S; Schreglmann, SR; Sambati, L; Gómez-Garre, P; Halsband, C; ... Provini, F; + view all Baldelli, L; Schade, S; Jesús, S; Schreglmann, SR; Sambati, L; Gómez-Garre, P; Halsband, C; Calandra-Buonaura, G; Adarmes-Gómez, AD; Sixel-Döring, F; Zenesini, C; Pirazzini, C; Garagnani, P; Bacalini, MG; Bhatia, KP; Cortelli, P; Mollenhauer, B; Franceschi, C; Mir, P; Trenkwalder, C; Provini, F; - view fewer (2021) Heterogeneity of prodromal Parkinson symptoms in siblings of Parkinson disease patients. npj Parkinson's Disease , 7 , Article 78. 10.1038/s41531-021-00219-1.

Baltas, I; Boshier, FAT; Williams, CA; Bayzid, N; Cotic, M; Guerra-Assunção, JA; Irish-Tavares, D; ... Mahungu, TW; + view all Baltas, I; Boshier, FAT; Williams, CA; Bayzid, N; Cotic, M; Guerra-Assunção, JA; Irish-Tavares, D; Haque, T; Hart, J; Roy, S; Williams, R; Breuer, J; Mahungu, TW; - view fewer (2021) Post-vaccination COVID-19: A case-control study and genomic analysis of 119 breakthrough infections in partially vaccinated individuals. Clinical Infectious Diseases , Article ciab714. 10.1093/cid/ciab714. (In press).

Barile, A; Mills, P; di Salvo, ML; Graziani, C; Bunik, V; Clayton, P; Contestabile, R; Barile, A; Mills, P; di Salvo, ML; Graziani, C; Bunik, V; Clayton, P; Contestabile, R; Tramonti, A; - view fewer (2021) Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5 '-Phosphate Oxidase-Dependent Epilepsy. International Journal of Molecular Sciences , 22 (21) , Article 12013. 10.3390/ijms222112013.

Baruteau, J; Cunningham, SC; Yilmaz, BS; Perocheau, DP; Eaglestone, S; Burke, D; Thrasher, AJ; ... Gissen, P; + view all Baruteau, J; Cunningham, SC; Yilmaz, BS; Perocheau, DP; Eaglestone, S; Burke, D; Thrasher, AJ; Waddington, SN; Lisowski, L; Alexander, IE; Gissen, P; - view fewer (2021) Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys. Molecular Therapy - Methods & Clinical Development , 23 pp. 135-146. 10.1016/j.omtm.2021.09.005.

Betts, CA; Jagannath, A; van Westering, TLE; Bowerman, M; Banerjee, S; Meng, J; Falzarano, MS; ... Wood, MJA; + view all Betts, CA; Jagannath, A; van Westering, TLE; Bowerman, M; Banerjee, S; Meng, J; Falzarano, MS; Cravo, L; McClorey, G; Meijboom, KE; Bhomra, A; Lim, WF; Rinaldi, C; Counsell, JR; Chwalenia, K; O’Donovan, E; Saleh, AF; Gait, MJ; Morgan, JE; Ferlini, A; Foster, RG; Wood, MJA; - view fewer (2021) Dystrophin involvement in peripheral circadian SRF signalling. Life Science Alliance , 4 (10) , Article e202101014. 10.26508/lsa.202101014.

Bindoff, LA; Brown, DA; Gorman, GS; Karaa, A; Keshavan, N; Lamperti, C; Mancuso, M; ... De Vries, MC; + view all Bindoff, LA; Brown, DA; Gorman, GS; Karaa, A; Keshavan, N; Lamperti, C; Mancuso, M; McFarland, R; Ng, YS; O'Callaghan, M; Pitceathly, RDS; Rahman, S; Russel, FGM; Schirris, TJJ; Varhaug, KN; De Vries, MC; - view fewer (2021) Comment on "A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome". Journal of Inherited Metabolic Disease , 44 (1) pp. 6-7. 10.1002/jimd.12329.

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Zhou, J; Azizan, EAB; Cabrera, CP; Fernandes-Rosa, FL; Boulkroun, S; Argentesi, G; Cottrell, E; ... Brown, MJ; + view all Zhou, J; Azizan, EAB; Cabrera, CP; Fernandes-Rosa, FL; Boulkroun, S; Argentesi, G; Cottrell, E; Amar, L; Wu, X; O'Toole, S; Goodchild, E; Marker, A; Senanayake, R; Garg, S; Åkerström, T; Backman, S; Jordan, S; Polubothu, S; Berney, DM; Gluck, A; Lines, KE; Thakker, RV; Tuthill, A; Joyce, C; Kaski, JP; Karet Frankl, FE; Metherell, LA; Teo, AED; Gurnell, M; Parvanta, L; Drake, WM; Wozniak, E; Klinzing, D; Kuan, JL; Tiang, Z; Gomez Sanchez, CE; Hellman, P; Foo, RSY; Mein, CA; Kinsler, VA; Björklund, P; Storr, HL; Zennaro, M-C; Brown, MJ; - view fewer (2021) Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause. Nature Genetics , 53 pp. 1360-1372. 10.1038/s41588-021-00906-y.

Zou, X; Koh, GCC; Nanda, AS; Degasperi, A; Urgo, K; Roumeliotis, TI; Agu, CA; ... Nik-Zainal, S; + view all Zou, X; Koh, GCC; Nanda, AS; Degasperi, A; Urgo, K; Roumeliotis, TI; Agu, CA; Badja, C; Momen, S; Young, J; Amarante, TD; Side, L; Brice, G; Perez-Alonso, V; Rueda, D; Gomez, C; Bushell, W; Harris, R; Choudhary, JS; Genomics England Research Consortium; Jiricny, J; Skarne, WC; Nik-Zainal, S; - view fewer (2021) A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage. Nature Cancer , 2 (6) pp. 643-657. 10.1038/s43018-021-00200-0.

2020

Ades, AE; Soriano-Arandes, A; Alarcon, A; Bonfante, F; Thorne, C; Peckham, CS; Giaquinto, C; (2020) Vertical transmission of Zika virus and its outcomes: a Bayesian synthesis of prospective studies. The Lancet Infectious Diseases 10.1016/S1473-3099(20)30432-1. (In press).

Ades, AE; Thorne, C; Soriano-Arandes, A; Peckham, CS; Brown, DW; Lang, D; Morris, JG; ... Giaquinto, C; + view all Ades, AE; Thorne, C; Soriano-Arandes, A; Peckham, CS; Brown, DW; Lang, D; Morris, JG; Christie, CDC; Giaquinto, C; - view fewer (2020) Researching Zika in pregnancy: lessons for global preparedness. The Lancet Infectious Diseases , 20 (4) E61-E68. 10.1016/S1473-3099(20)30021-9.

Aguti, S; Bolduc, V; Ala, P; Turmaine, M; Bönnemann, CG; Muntoni, F; Zhou, H; (2020) Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD. Molecular Therapy - Nucleic Acids , 21 pp. 205-216. 10.1016/j.omtn.2020.05.029.

Alatzoglou, KS; Gregory, LC; Dattani, M; (2020) Development of the Pituitary Gland. Comprehensive Physiology , 10 (2) pp. 389-413. 10.1002/cphy.c150043.

Altmann, A; Cash, DM; Bocchetta, M; Heller, C; Reynolds, R; Moore, K; Convery, RS; ... Rohrer, JD; + view all Altmann, A; Cash, DM; Bocchetta, M; Heller, C; Reynolds, R; Moore, K; Convery, RS; Thomas, DL; van Swieten, JC; Moreno, F; Sanchez-Valle, R; Borroni, B; Laforce, R; Masellis, M; Tartaglia, MC; Graff, C; Galimberti, D; Rowe, JB; Finger, E; Synofzik, M; Vandenberghe, R; de Mendonça, A; Tagliavini, F; Santana, I; Ducharme, S; Butler, CR; Gerhard, A; Levin, J; Danek, A; Frisoni, G; Ghidoni, R; Sorbi, S; Otto, M; Ryten, M; Rohrer, JD; - view fewer (2020) Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia. Brain Communications 10.1093/braincomms/fcaa122. (In press).

Angelova, PR; Choil, ML; Berezhnov, A; Horrocks, MH; Hughes, CD; De, S; Rodrigues, M; ... Gandhi, S; + view all Angelova, PR; Choil, ML; Berezhnov, A; Horrocks, MH; Hughes, CD; De, S; Rodrigues, M; Yapom, R; Little, D; Dolt, KS; Kunath, T; Devine, MJ; Gissen, P; Shchepinov, MS; Sylantyev, S; Pavlov, E; Klenerman, D; Abramov, AY; Gandhi, S; - view fewer (2020) Alpha synuclein aggregation drives ferroptosis: an interplay of iron, calcium and lipid peroxidation. Cell Death & Differentiation , 27 pp. 2781-2796. 10.1038/s41418-020-0542-z.

Balogh, E; Chandler, J; Varga, M; Tahoun, M; Menyhárd, DK; Schay, G; Goncalves, T; ... Tory, K; + view all Balogh, E; Chandler, J; Varga, M; Tahoun, M; Menyhárd, DK; Schay, G; Goncalves, T; Hamar, R; Légrádi, R; Szekeres, Á; Gribouval, O; Kleta, R; Stanescu, H; Bockenhauer, D; Kerti, A; Williams, H; Kinsler, V; Di, W-L; Curtis, D; Kolatsi-Joannou, M; Hammid, H; Szőcs, A; Perczel, K; Maka, E; Toldi, G; Sava, F; Arrondel, C; Kardos, M; Fintha, A; Hossain, A; D’Arco, F; Kaliakatsos, M; Koeglmeier, J; Mifsud, W; Moosajee, M; Faro, A; Jávorszky, E; Rudas, G; Saied, MH; Marzouk, S; Kelen, K; Götze, J; Reusz, G; Tulassay, T; Dragon, F; Mollet, G; Motameny, S; Thiele, H; Dorval, G; Nürnberg, P; Perczel, A; Szabó, AJ; Long, DA; Tomita, K; Antignac, C; Waters, AM; Tory, K; - view fewer (2020) Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proceedings of the National Academy of Sciences of the United States of America , 117 (26) pp. 15137-15147. 10.1073/pnas.2002328117.

Baruteau, J; Gurung, S; Perocheau, D; Counsell, J; (2020) Gene therapy for inherited metabolic diseases. Journal of Mother and Child , 24 (2) 10.34763/jmotherandchild.20202402si.2004.000009.

Belsten, J; Werring, DJ; Jones, H; Heales, S; Pope, S; (2020) Cerebrospinal fluid folate, ascorbate, and tetrahydrobiopterin deficiency in superficial siderosis: A new potential mechanism of neurological dysfunction? Journal of the Neurological Sciences , 414 , Article 116856. 10.1016/j.jns.2020.116856.

Bilip, M; Shah, S; Mathiyalakan, M; Tagalakis, A; Hart, SL; Maeshima, R; Eaton, S; ... Stoker, AW; + view all Bilip, M; Shah, S; Mathiyalakan, M; Tagalakis, A; Hart, SL; Maeshima, R; Eaton, S; Orford, M; Irving, E; Di Florio, A; Simons, C; Stoker, AW; - view fewer (2020) Liposomal delivery of hydrophobic RAMBAs provides good bioavailability and significant enhancement of retinoic acid signalling in neuroblastoma tumour cells. Journal of Drug Targeting 10.1080/1061186X.2019.1710157. (In press).

Boyd, AC; Guo, S; Huang, L; Kerem, B; Oren, YS; Walker, AJ; Hart, SL; (2020) New approaches to genetic therapies for cystic fibrosis. Journal of Cystic Fibrosis , 19 (S1) S54-S59. 10.1016/j.jcf.2019.12.012.

Bryant, D; Seda, M; Peskett, E; Maurer, C; Pomeranz, G; Ghosh, M; Hawkins, TA; ... Stanier, P; + view all Bryant, D; Seda, M; Peskett, E; Maurer, C; Pomeranz, G; Ghosh, M; Hawkins, TA; Cleak, J; Datta, S; Hariri, H; Eckert, KM; Jafree, DJ; Walsh, C; Demetriou, C; Ishida, M; Alemán-Charlet, C; Vestito, L; Seselgyte, R; McDonald, JG; Bitner-Glindzicz, M; Hemberger, M; Rihel, J; Teboul, L; Henne, WM; Jenkins, D; Moore, GE; Stanier, P; - view fewer (2020) Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations. Scientific Reports , 10 (1) , Article 13763. 10.1038/s41598-020-70797-2.

Buonocore, F; Achermann, JC; (2020) Primary adrenal insufficiency: New genetic causes and their long-term consequences. [Review]. Clinical Endocrinology , 92 (1) pp. 11-20. 10.1111/cen.14109.

Buonocore, F; McGlacken-Byrne, SM; Del Valle, I; Achermann, JC; (2020) Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant. Frontiers in Pediatrics , 8 , Article 619041. 10.3389/fped.2020.619041.

Burke, D; Heales, S; (2020) Differential activity of glucocerebrosidase in neurons and astrocytes; implications for evaluating tissue homogenates derived from Parkinson's disease brains. [Letter]. Journal of the Neurological Sciences , 418 , Article 117097. 10.1016/j.jns.2020.117097.

Butz, ES; Chandrachud, U; Mole, SE; Cotman, SL; (2020) Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease , 1866 (9) , Article 165571. 10.1016/j.bbadis.2019.165571.

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Cave, A; Plumptre, I; Mellerio, JE; Martinez, AE; Kinsler, VA; (2020) The adverse effect profile of acitretin in a pediatric dermatology population-Longitudinal cohort study and recommendations for monitoring. Journal of the American Academy of Dermatology 10.1016/j.jaad.2020.03.082. (In press).

Cerbone, M; Güemes, M; Wade, A; Improda, N; Dattani, M; (2020) Endocrine morbidity in midline brain defects: Differences between septo-optic dysplasia and related disorders. EClinicalMedicine 10.1016/j.eclinm.2019.11.017. (In press).

Chen, Z; Ryten, M; Houlden, H; (2020) Reply to: No evidence supports genetic heterogeneity of neuronal intranuclear inclusion disease. Annals of Clinical and Translational Neurology , 7 (12) pp. 2544-2545. 10.1002/acn3.51222.

Chen, Z; Yan Yau, W; Jaunmuktane, Z; Tucci, A; Sivakumar, P; Gagliano Taliun, SA; Turner, C; ... Houlden, H; + view all Chen, Z; Yan Yau, W; Jaunmuktane, Z; Tucci, A; Sivakumar, P; Gagliano Taliun, SA; Turner, C; Efthymiou, S; Ibáñez, K; Sullivan, R; Bibi, F; Athanasiou-Fragkouli, A; Bourinaris, T; Zhang, D; Revesz, T; Lashley, T; DeTure, M; Dickson, DW; Josephs, KA; Gelpi, E; Kovacs, GG; Halliday, G; Rowe, DB; Blair, I; Tienari, PJ; Suomalainen, A; Fox, NC; Wood, NW; Lees, AJ; Haltia, MJ; Genomics England Research Consortium; Hardy, J; Ryten, M; Vandrovcova, J; Houlden, H; - view fewer (2020) Neuronal intranuclear inclusion disease is genetically heterogeneous. Annals of Clinical and Translational Neurology , 7 (9) pp. 1716-1725. 10.1002/acn3.51151.

Chen, Y-H; Eskandarpour, M; Gondrand, A; Zhang, X; Gu, R; Galatowicz, G; Lightman, SL; Chen, Y-H; Eskandarpour, M; Gondrand, A; Zhang, X; Gu, R; Galatowicz, G; Lightman, SL; Calder, VL; - view fewer (2020) Functionally distinct IFN-γ⁺ IL-17A⁺ Th cells in experimental autoimmune uveitis: T-cell heterogeneity, migration, and steroid response. European Journal of Immunology 10.1002/eji.202048616. (In press).

Clarke, M; Mackay, A; Ismer, B; Pickles, JC; Tatevossian, RG; Newman, S; Bale, TA; ... Jones, C; + view all Clarke, M; Mackay, A; Ismer, B; Pickles, JC; Tatevossian, RG; Newman, S; Bale, TA; Stoler, I; Izquierdo, E; Temelso, S; Carvalho, DM; Molinari, V; Burford, A; Howell, L; Virasami, A; Fairchild, AR; Avery, A; Chalker, J; Kristiansen, M; Haupfear, K; Dalton, JD; Orisme, W; Wen, J; Hubank, M; Kurian, KM; Rowe, C; Maybury, M; Crosier, S; Knipstein, J; Schuller, U; Kordes, U; Kram, DE; Snuderl, M; Bridges, L; Martin, AJ; Doey, LJ; Al-Sarraj, S; Chandler, C; Zebian, B; Cairns, C; Natrajan, R; Boult, JK; Robinson, SP; Sill, M; Dunkel, IJ; Gilheeney, SW; Rosenblum, MK; Hughes, D; Proszek, PZ; MacDonald, TJ; Preusser, M; Haberler, C; Slavc, I; Packer, R; Ng, H-K; Caspi, S; Popovic, M; Faganel Kotnik, B; Wood, MD; Baird, L; Davare, MA; Solomon, DA; Olsen, TK; Brandal, P; Farrell, M; Cryan, JB; Capra, M; Karremann, M; Schittenhelm, J; Schuhmann, MU; Ebinger, M; Dinjens, WNM; Kerl, K; Hettmer, S; Pietsch, T; Andreiuolo, F; Driever, PH; Korshunov, A; Hiddingh, L; Worst, BC; Sturm, D; Zuckermann, M; Witt, O; Bloom, T; Mitchell, C; Miele, E; Colafati, GS; Diomedi-Camassei, F; Bailey, S; Moore, AS; Hassall, TE; Lowis, SP; Tsoli, M; Cowley, MJ; Ziegler, DS; Karajannis, MA; Aquilina, K; Hargrave, DR; Carceller, F; Marshall, LV; von Deimling, A; Kramm, CM; Pfister, SM; Sahm, F; Baker, SJ; Mastronuzzi, A; Carai, A; Vinci, M; Capper, D; Popov, S; Ellison, DW; Jacques, TS; Jones, DTW; Jones, C; - view fewer (2020) Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes. Cancer Discovery , 10 (7) pp. 942-963. 10.1158/2159-8290.CD-19-1030.

Clayton, P; Tuschl, K; (2020) Metal Storage Disorders: Inherited Disorders of Copper and Manganese Metabolism and Movement Disorders. In: Ebrahimi-Fakhari, D and Pearl, P, (eds.) Movement Disorders and Inherited Metabolic Disorders: Recognition, Understanding, Improving Outcomes. (pp. 230-243). Cambridge University Press: Cambridge, UK.

Clayton, PT; (2020) Is susceptibility to severe COVID-19 disease an inborn error of metabolism? [Letter]. Journal of Inherited Metabolic Disease , 43 (5) pp. 906-907. 10.1002/jimd.12280.

Cooper, JD; Mole, SE; (2020) Future perspectives: What lies ahead for Neuronal Ceroid Lipofuscinosis research? Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease , 1866 (9) , Article 165681. 10.1016/j.bbadis.2020.165681.

Costa, B; Manzoni, C; Bernal-Quiros, M; Kia, D; Aguilar, M; Alvarez, I; Alvarez, V; ... Hardy, J; + view all Costa, B; Manzoni, C; Bernal-Quiros, M; Kia, D; Aguilar, M; Alvarez, I; Alvarez, V; Andreassen, O; Anfoss, M; Bagnoli, S; Benussi, L; Bernardi, L; Binetti, G; Blackburn, D; Boada, M; Borroni, B; Bowns, L; Bråthen, G; Bruni, A; Chiang, H-H; Clarimon, J; Colville, S; Conidi, M; Cope, T; Cruchaga, C; Cupidi, C; Di Battista, ME; Diehl-Schmid, J; Diez-Fairen, M; Dols-Icardo, O; Durante, E; Flisar, D; Frangipane, F; Galimberti, D; Gallo, M; Gallucc, M; Ghidoni, R; Graff, C; Grafman, J; Grossman, M; Hardy, J; - view fewer (2020) C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts. Neurology , 95 (24) e3288-e3302. 10.1212/WNL.0000000000010914.

COVID-19 Genomics UK (COG-UK); (2020) An integrated national scale SARS-CoV-2 genomic surveillance network. The Lancet Microbe , 1 (3) e99-e100. 10.1016/S2666-5247(20)30054-9.

Cuomo, ASE; Seaton, DD; McCarthy, DJ; Martinez, I; Bonder, MJ; Garcia-Bernardo, J; Amatya, S; ... Stegle, O; + view all Cuomo, ASE; Seaton, DD; McCarthy, DJ; Martinez, I; Bonder, MJ; Garcia-Bernardo, J; Amatya, S; Madrigal, P; Isaacson, A; Buettner, F; Knights, A; Natarajan, KN; HipSci Consortium; Vallier, L; Marioni, JC; Chhatriwala, M; Stegle, O; - view fewer (2020) Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression. Nature Communications , 11 (1) p. 810. 10.1038/s41467-020-14457-z.

Dabbeek, J; Silva, V; Galasso, C; Smith, A; (2020) Probabilistic earthquake and flood loss assessment in the Middle East. International Journal of Disaster Risk Reduction , 49 , Article 101662. 10.1016/j.ijdrr.2020.101662.

De Vries, MC; Brown, DA; Allen, ME; Bindoff, L; Gorman, GS; Karaa, A; Keshavan, N; ... Mancuso, M; + view all De Vries, MC; Brown, DA; Allen, ME; Bindoff, L; Gorman, GS; Karaa, A; Keshavan, N; Lamperti, C; McFarland, R; Ng, YS; O'Callaghan, M; Pitceathly, RDS; Rahman, S; Russel, FGM; Varhaug, KN; Schirris, TJJ; Mancuso, M; - view fewer (2020) Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus. Journal of Inherited Metabolic Disease 10.1002/jimd.12196. (In press).

Doreste, B; Torelli, S; Morgan, J; (2020) Irradiation dependent inflammatory response may enhance satellite cell engraftment. Scientific Reports , 10 , Article 11119. 10.1038/s41598-020-68098-9.

Doykov, I; Hällqvist, J; Gilmour, KC; Grandjean, L; Mills, K; Heywood, WE; (2020) 'The long tail of Covid-19' - The detection of a prolonged inflammatory response after a SARS-CoV-2 infection in asymptomatic and mildly affected patients [version 1; peer review: awaiting peer review]. F1000Research , 9 , Article 1349. 10.12688/f1000research.27287.1.

Engel, J; Schwartz, E; Catlow, CRA; Roldan, A; (2020) The influence of oxygen vacancy and Ce3+ ion positions on the properties of small gold clusters supported on CeO2-x(111). Journal of Materials Chemistry A , 8 (31) pp. 15695-15705. 10.1039/d0ta01398f.

Fassad, MR; Shoman, WI; Morsy, H; Patel, MP; Radwan, N; Jenkins, L; Cullup, T; ... Fasseeh, N; + view all Fassad, MR; Shoman, WI; Morsy, H; Patel, MP; Radwan, N; Jenkins, L; Cullup, T; Fouda, E; Mitchison, HM; Fasseeh, N; - view fewer (2020) Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia. Clinical Genetics , 97 (3) pp. 509-515. 10.1111/cge.13661.

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Freke, Grace Mercedes; (2020) Probing the Role(s) of Bbs1 with CRISPR/Cas9 Gene Editing. Doctoral thesis (Ph.D), UCL (University College London).

Fulop, N; Capelas Barbosa, E; Hill, M; Ledger, J; Ng, PL; Sherlaw-Johnson, C; Rolewicz, L; + view all Fulop, N; Capelas Barbosa, E; Hill, M; Ledger, J; Ng, PL; Sherlaw-Johnson, C; Rolewicz, L; Schlepper, L; Spencer, J; Tomini, S; Vindrola, C; Morris, S; - view fewer (2020) Rapid Evaluation of the Special Measures for Quality and Challenged Provider Regimes: A Mixed-Methods Study. National Institute for Health Research: NIHR Journals Library.

Fulop, N; Capelas Barbosa, E; Hill, M; Ledger, J; Sherlaw-Johnson, C; Spencer, J; Vindrola, C; Fulop, N; Capelas Barbosa, E; Hill, M; Ledger, J; Sherlaw-Johnson, C; Spencer, J; Vindrola, C; Morris, S; - view fewer (2020) Special Measures for Quality and Challenged Providers: Study Protocol for Evaluating the Impact of Improvement Interventions in NHS Trusts. International Journal of Health Policy and Management , 9 (4) pp. 143-151. 10.15171/ijhpm.2019.100.

Gao, E; Cheema, H; Waheed, N; Mushtaq, I; Erden, N; Nelson-Williams, C; Jain, D; ... Vilarinho, S; + view all Gao, E; Cheema, H; Waheed, N; Mushtaq, I; Erden, N; Nelson-Williams, C; Jain, D; Soroka, CJ; Boyer, JL; Khalil, Y; Clayton, PT; Mistry, PK; Lifton, RP; Vilarinho, S; - view fewer (2020) OSTα deficiency: A disorder with cholestasis, liver fibrosis and congenital diarrhea. Hepatology , 71 (5) pp. 1879-1882. 10.1002/hep.31087.

Gao, Y; Wang, T; Yu, X; International FTD-Genomics Consortium (IFGC); Zhao, H; Zeng, P; (2020) Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis. Scientific Reports , 10 , Article 12184. 10.1038/s41598-020-68848-9.

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Wainwright, L; Hargreaves, IP; Georgian, AR; Turner, C; Dalton, RN; Abbott, NJ; Heales, SJR; Wainwright, L; Hargreaves, IP; Georgian, AR; Turner, C; Dalton, RN; Abbott, NJ; Heales, SJR; Preston, JE; - view fewer (2020) CoQ₁₀ Deficient Endothelial Cell Culture Model for the Investigation of CoQ₁₀ Blood-Brain Barrier Transport. Journal of Clinical Medicine , 9 (10) , Article 3236. 10.3390/jcm9103236.

Wei, Wei; Pagnamenta, Alistair T; Gleadall, Nicholas; Sanchis-Juan, Alba; Stephens, Jonathan; Broxholme, John; Tuna, Salih; ... Chinnery, Patrick F; + view all Wei, Wei; Pagnamenta, Alistair T; Gleadall, Nicholas; Sanchis-Juan, Alba; Stephens, Jonathan; Broxholme, John; Tuna, Salih; Odhams, Christopher A; Fratter, Carl; Turro, Ernest; Caulfield, Mark J; Taylor, Jenny C; Rahman, Shamima; Chinnery, Patrick F; - view fewer (2020) Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans. Nature Communications , 11 , Article 3741. 10.1038/s41467-020-17572-z.

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Woodcock, T; Barker, P; Daniel, S; Fletcher, S; Wass, JAH; Tomlinson, JW; Misra, U; ... Vercueil, A; + view all Woodcock, T; Barker, P; Daniel, S; Fletcher, S; Wass, JAH; Tomlinson, JW; Misra, U; Dattani, M; Arlt, W; Vercueil, A; - view fewer (2020) Guidelines for the management of glucocorticoids during the peri-operative period for patients with adrenal insufficiency Guidelines from the Association of Anaesthetists, the Royal College of Physicians and the Society for Endocrinology UK. Anaesthesia , 75 (5) pp. 654-663. 10.1111/anae.14963.

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Xue, H; Tseng, E; Knott, KD; Kotecha, T; Brown, L; Plein, S; Fontana, M; ... Kellman, P; + view all Xue, H; Tseng, E; Knott, KD; Kotecha, T; Brown, L; Plein, S; Fontana, M; Moon, JC; Kellman, P; - view fewer (2020) Automated detection of left ventricle in arterial input function images for inline perfusion mapping using deep learning: A study of 15,000 patients. Magnetic Resonance in Medicine , 84 (5) pp. 2788-2800. 10.1002/mrm.28291.

Young, E; Gould, D; Hart, S; (2020) Toward gene therapy in rheumatoid arthritis. Expert Review of Precision Medicine and Drug Development , 5 (3) pp. 123-133. 10.1080/23808993.2020.1736942.

Zarkali, A; McColgan, P; Ryten, M; Reynolds, R; Leyland, L; Lees, A; Rees, G; Zarkali, A; McColgan, P; Ryten, M; Reynolds, R; Leyland, L; Lees, A; Rees, G; Weil, R; - view fewer (2020) Differences in network controllability and regional gene expression underlie visual hallucinations in Parkinson’s disease. Brain: a journal of neurology , 143 (11) pp. 3435-3448. 10.1093/brain/awaa270.

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Zhang, Y; Chen, F; Fonseca, NA; He, Y; Fujita, M; Nakagawa, H; Zhang, Z; ... PCAWG Consortium; + view all Zhang, Y; Chen, F; Fonseca, NA; He, Y; Fujita, M; Nakagawa, H; Zhang, Z; Brazma, A; PCAWG Transcriptome Working Group; PCAWG Structural Variation Working Group; Creighton, CJ; PCAWG Consortium; - view fewer (2020) High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations. Nature Communications , 11 (1) , Article 736. 10.1038/s41467-019-13885-w.

Zhou, H; (2020) Application and Mechanism of Action of Antisense Oligonucleotides in Precise Medicine. Journal of Precision Medicine , 35 (4) pp. 283-286. 10.13362/j.jpmed.202004001.

Zhou, H; Meng, J; Malerba, A; Catapano, F; Sintusek, P; Jarmin, S; Feng, L; ... Muntoni, F; + view all Zhou, H; Meng, J; Malerba, A; Catapano, F; Sintusek, P; Jarmin, S; Feng, L; Lu-Nguyen, N; Sun, L; Mariot, V; Dumonceaux, J; Morgan, JE; Gissen, P; Dickson, G; Muntoni, F; - view fewer (2020) Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy. Journal of Cachexia, Sarcopenia and Muscle 10.1002/jcsm.12542. (In press).

Zhou, H; Muntoni, F; (2020) The authors reply: Letter on: "Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy" by Zhou et al . [Letter]. Journal of Cachexia, Sarcopenia and Muscle 10.1002/jcsm.12608. (In press).

2019

Dattani, MT and Brook, CGD (Eds). (2019) Brook's Clinical Pediatric Endocrinology. [Book]. (7th ed.). Wiley-Blackwell: Oxford, UK.

Abril, JF; Castellano Hereza, S; (2019) Genome Annotation. In: Ranganathan, S and Gribskov, M and Schönbach, C, (eds.) Encyclopedia of Bioinformatics and Computational Biology. (pp. 195-209). Elsevier: Amsterdam, Netherlands.

Ali, SR; Bryce, J; Cools, M; Korbonits, M; Beun, JG; Taruscio, D; Danne, T; ... Ahmed, SF; + view all Ali, SR; Bryce, J; Cools, M; Korbonits, M; Beun, JG; Taruscio, D; Danne, T; Dattani, M; Dekkers, OM; Linglart, A; Netchine, I; Nordenstrom, A; Patocs, A; Persani, L; Reisch, N; Smythe, A; Sumnik, Z; Visser, WE; Hiort, O; Pereira, AM; Ahmed, SF; - view fewer (2019) The current landscape of European registries for rare endocrine conditions. European Journal of Endocrinology , 180 (1) pp. 89-98. 10.1530/EJE-18-0861.

Alkhidir, AAI; Holland, MJ; Elhag, WI; Williams, CA; Breuer, J; Elemam, AE; El Hussain, KMK; ... Pickering, H; + view all Alkhidir, AAI; Holland, MJ; Elhag, WI; Williams, CA; Breuer, J; Elemam, AE; El Hussain, KMK; Ournasseir, MEH; Pickering, H; - view fewer (2019) Whole-genome sequencing of ocular Chlamydia trachomatis isolates from Gadarif State, Sudan. Parasites and Vectors , 12 , Article 518. 10.1186/s13071-019-3770-7.

Anderson, R; Rust, S; Ashworth, J; Clayton-Smith, J; Taylor, RL; Clayton, PT; Morris, AAM; (2019) Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties. JIMD Reports , 44 pp. 79-84. 10.1007/8904_2018_127.

Bacila, I; Adaway, J; Hawley, J; Mahdi, S; Krone, R; Patel, L; Alvi, S; ... Krone, N; + view all Bacila, I; Adaway, J; Hawley, J; Mahdi, S; Krone, R; Patel, L; Alvi, S; Randell, T; Gevers, E; Dattani, M; Cheetham, T; Kyriakou, A; Schiffer, L; Ryan, F; Crowne, E; Davies, JH; Ahmed, SF; Keevil, B; Krone, N; - view fewer (2019) Measurement of Salivary Adrenal-Specific Androgens as Biomarkers of Therapy Control in 21-Hydroxylase Deficiency. The Journal of Clinical Endocrinology & Metabolism , 104 (12) pp. 6417-6429. 10.1210/jc.2019-00031.

Baird, William; (2019) Genetic therapy for congenital melanocytic naevi. Doctoral thesis (Ph.D), UCL (University College London).

Balasubramaniam, S; Christodoulou, J; Rahman, S; (2019) Disorders of Riboflavin Metabolism. Journal of Inherited Metabolic Disease , 42 (4) pp. 608-619. 10.1002/jimd.12058.

Bandres-Ciga, S; Ahmed, S; Sabir, MS; Blauwendraat, C; Adarmes-Gomez, AD; Bernal-Bernal, I; Bonilla-Toribio, M; ... Singleton, A; + view all Bandres-Ciga, S; Ahmed, S; Sabir, MS; Blauwendraat, C; Adarmes-Gomez, AD; Bernal-Bernal, I; Bonilla-Toribio, M; Buiza-Rueda, D; Carrillo, F; Carrion-Claro, M; Gomez-Garre, P; Jesus, S; Labrador-Espinosa, MA; Macias, D; Mendez-del-Barrio, C; Perinan-Tocino, T; Tejera-Parrado, C; Vargas-Gonzalez, L; Diez-Fairen, M; Alvarez, I; Pablo Tartari, J; Buongiorno, M; Aguilar, M; Gorostidi, A; Alberto Bergareche, J; Mondragon, E; Vinagre-Aragon, A; Croitoru, I; Ruiz-Martinez, J; Dols-Icardo, O; Kulisevsky, J; Marin-Lahoz, J; Pagonabarraga, J; Pascual-Sedano, B; Ezquerra, M; Camara, A; Compta, Y; Fernandez, M; Fernandez-Santiago, R; Munoz, E; Tolosa, E; Valldeoriola, F; Gonzalez-Aramburu, I; Sanchez Rodriguez, A; Sierra, M; Menendez-Gonzalez, M; Blazquez, M; Garcia, C; Martin, ES-S; Garcia-Ruiz, P; Carlos Martinez-Castrillo, J; Vela-Desojo, L; Ruz, C; Javier Barrero, F; Escamilla-Sevilla, F; Minguez-Castellanos, A; Cerdan, D; Tabernero, C; Gomez Heredia, MJ; Perez Errazquin, F; Romero-Acebal, M; Feliz, C; Luis Lopez-Sendon, J; Mata, M; Martinez Torres, I; Kim, JJ; Dalgard, CL; Brooks, J; Saez-Atienzar, S; Raphael Gibbs, J; Jorda, R; Botia, JA; Bonet-Ponce, L; Morrison, KE; Clarke, C; Tan, M; Morris, H; Edsall, C; Hernandez, D; Simon-Sanchez, J; Nalls, MA; Scholz, SW; Jimenez-Escrig, A; Duarte, J; Vives, F; Duran, R; Hoenicka, J; Alvarez, V; Infante, J; Jose Marti, M; Clarimon, J; Lopez de Munain, A; Pastor, P; Mir, P; Singleton, A; - view fewer (2019) The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight. Movement Disorders 10.1002/mds.27864. (In press).

Bandres-Ciga, S; Saez-Atienzar, S; Bonet-Ponce, L; Billingsley, K; Vitale, D; Blauwendraat, C; Gibbs, JR; ... Singleton, AB; + view all Bandres-Ciga, S; Saez-Atienzar, S; Bonet-Ponce, L; Billingsley, K; Vitale, D; Blauwendraat, C; Gibbs, JR; Pihlstrøm, L; Gan-Or, Z; International Parkinson's Disease Genomics Consortium (IPDGC), .; Cookson, MR; Nalls, MA; Singleton, AB; - view fewer (2019) The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease. Movement Disorders , 34 (4) pp. 460-468. 10.1002/mds.27614.

Barrell, WB; Griffin, JN; Harvey, J-L; Danovi, D; Beales, P; Grigoriadis, AE; Liu, KJ; (2019) Induction of Neural Crest Stem Cells From Bardet-Biedl Syndrome Patient Derived hiPSCs. Frontiers In Molecular Neuroscience , 12 , Article 139. 10.3389/fnmol.2019.00139.

Baruteau, J; Diez-Fernandez, C; Lerner, S; Ranucci, G; Gissen, P; Dionisi-Vici, C; Nagamani, S; ... Häberle, J; + view all Baruteau, J; Diez-Fernandez, C; Lerner, S; Ranucci, G; Gissen, P; Dionisi-Vici, C; Nagamani, S; Erez, A; Häberle, J; - view fewer (2019) Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects. Journal of Inherited Metabolic Disease , 42 (6) pp. 1147-1161. 10.1002/jimd.12047.

Baruteau, J; Khalil, Y; Grunewald, S; Zancolli, M; Chakrapani, A; Cleary, M; Davison, J; ... Mills, P; + view all Baruteau, J; Khalil, Y; Grunewald, S; Zancolli, M; Chakrapani, A; Cleary, M; Davison, J; Footitt, E; Waddington, SN; Gissen, P; Mills, P; - view fewer (2019) Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment. Metabolites , 9 (11) , Article 275. 10.3390/metabo9110275.

Baruteau, J; Waddington, SN; (2019) Fetal gene therapy for neurodegenerative lysosomal storage diseases. Journal of Inherited Metabolic Disease , 42 (3) pp. 391-393. 10.1002/jimd.12018.

Baud, A; Heywood, WE; Little, D; Gissen, P; Mills, K; (2019) Preparation of iPSCs for Targeted Proteomic Analysis. Cell-Based Assays Using iPSCs for Drug Development and Testing , 1994 pp. 131-139. 10.1007/978-1-4939-9477-9_11.

Baud, A; Little, D; Wen, TQ; Heywood, WE; Gissen, P; Mills, K; (2019) An Optimized Method for the Proteomic Analysis of Low Volumes of Cell Culture Media and the Secretome: The Application and the Demonstration of Altered Protein Expression in iPSC-Derived Neuronal Cell Lines from Parkinson’s Disease Patients. Journal of Proteome Research , 18 (3) pp. 1198-1207. 10.1021/acs.jproteome.8b00831.

Bax, BE; Levene, M; Bain, MD; Fairbanks, LD; Filosto, M; Kalkan Uçar, S; Klopstock, T; ... Nirmalananthan, N; + view all Bax, BE; Levene, M; Bain, MD; Fairbanks, LD; Filosto, M; Kalkan Uçar, S; Klopstock, T; Kornblum, C; Mandel, H; Rahman, S; Roubertie, A; Scarpelli, M; Sedgwick, PM; Baru, M; Sellos-Moura, M; Price, J; Horn, P; Nirmalananthan, N; - view fewer (2019) Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial. MDPI — JCM , 8 (8) , Article 1096. 10.3390/jcm8081096.

Bayat, A; Knaus, A; Juul, AW; Dukic, D; Gardella, E; Charzewska, A; Clement, E; ... DDD Study Group, .; + view all Bayat, A; Knaus, A; Juul, AW; Dukic, D; Gardella, E; Charzewska, A; Clement, E; Hjalgrim, H; Hoffman-Zacharska, D; Horn, D; Horton, R; Hurst, JA; Josifova, D; Larsen, LHG; Lascelles, K; Obersztyn, E; Pagnamenta, A; Pal, DK; Pendziwiat, M; Ryten, M; Taylor, J; Vogt, J; Weber, Y; Krawitz, PM; Helbig, I; Kini, U; Møller, RS; DDD Study Group, .; - view fewer (2019) PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics. Genetics in Medicine , 21 pp. 2216-2223. 10.1038/s41436-019-0512-3.

Berkovic, SF; Oliver, KL; Canafoglia, L; Krieger, P; Damiano, JA; Hildebrand, MS; Morbin, M; ... Carpenter, S; + view all Berkovic, SF; Oliver, KL; Canafoglia, L; Krieger, P; Damiano, JA; Hildebrand, MS; Morbin, M; Vears, DF; Sofia, V; Giuliano, L; Garavaglia, B; Simonati, A; Santorelli, FM; Gambardella, A; Labate, A; Belcastro, V; Castellotti, B; Ozkara, C; Zeman, A; Rankin, J; Mole, SE; Aguglia, U; Farrell, M; Rajagopalan, S; McDougall, A; Brammah, S; Andermann, F; Andermann, E; Dahl, H-HM; Franceschetti, S; Carpenter, S; - view fewer (2019) Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features. Brain , 142 (1) pp. 59-69. 10.1093/brain/awy297.

Bevan, D; White, A; Marshall, J; Peckham, C; (2019) Modelling the effect of the introduction of antenatal screening for group B Streptococcus (GBS) carriage in the UK. BMJ Open , 9 (3) , Article e024324. 10.1136/bmjopen-2018-024324.

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Cerbone, M; Clement, E; McClatchey, M; Dobbin, J; Gilbert, C; Keane, M; Boukhibar, L; ... Shah, P; + view all Cerbone, M; Clement, E; McClatchey, M; Dobbin, J; Gilbert, C; Keane, M; Boukhibar, L; Williams, H; Gagunashvili, A; Dattani, MT; Hurst, J; Shah, P; - view fewer (2019) Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement. Hormone Research in Paediatrics , 2019 (92) pp. 64-70. 10.1159/000496545.

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Dastamani, A; Malhorta, N; Güemes, M; Morgan, K; Rees, CM; Dattani, M; Shah, P; (2019) Post-Prandial Hyperinsulinaemic Hypoglycaemia after Oesophageal Surgery in Children. Hormone Research in Paediatrics , 91 (3) pp. 216-220. 10.1159/000491647.

Dattani, MT; (2019) Letrozole: a new treatment for delayed puberty in boys? [Editorial comment]. The Lancet Child & Adolescent Health , 3 (2) pp. 60-62. 10.1016/S2352-4642(18)30405-X.

Davison, J; Lemonde, H; Rahman, S; (2019) Inherited mitochondrial disease. [Review]. Paediatrics and Child Health , 29 (3) pp. 116-122. 10.1016/j.paed.2019.01.009.

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Ferretti, L; Mellis, R; Chitty, LS; (2019) Update on the use of exome sequencing in the diagnosis of fetal abnormalities. European Journal of Medical Genetics , 62 (8) , Article 103663. 10.1016/j.ejmg.2019.05.002.

Forny, P; Hochuli, M; Rahman, Y; Deheragoda, M; Weber, A; Baruteau, J; Grunewald, S; (2019) Liver neoplasms in methylmalonic aciduria: An emerging complication. Journal of Inherited Metabolic Disease , 42 (5) pp. 793-802. 10.1002/jimd.12143.

Forsythe, Elizabeth; (2019) Understanding the phenotype and preparing for therapeutics in Bardet-Biedl syndrome. Doctoral thesis (Ph.D), UCL (University College London).

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Funkhouser, CH; Kinsler, VA; Frieden, IJ; (2019) Striking contiguous depigmentation across the lower limbs in piebaldism and its implications for understanding melanocytic migration and development. Pediatric Dermatology , 36 (4) pp. 511-513. 10.1111/pde.13831.

Gagunashvili, AN; Ocaka, L; Kelberman, D; Munot, P; Bacchelli, C; Beales, PL; Ganesan, V; (2019) Novel missense variants in the RNF213 gene from a European family with Moyamoya disease. Human Genome Variation , 6 , Article 35. 10.1038/s41439-019-0066-6.

Gardner, Emily; (2019) Anti-vaccine activism: agnotological dissent and epistemic harm. Masters thesis (M.Sc), UCL (University College London).

Gardner, E; Bailey, M; Schulz, A; Aristorena, M; Miller, N; Mole, SE; (2019) Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease. Human Mutation , 40 (11) pp. 1924-1938. 10.1002/humu.23860.

Gault, EJ; Cole, TJ; Casey, S; Hindmarsh, PC; Betts, P; Dunger, DB; Donaldson, MDC; (2019) Effect of oxandrolone and timing of pubertal induction on final height in Turner syndrome: final analysis of the UK randomised placebo-controlled trial. Archives of Disease in Childhood 10.1136/archdischild-2019-317695. (In press).

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Gregory, LC; Ferreira, CB; Young-Baird, SK; Williams, HJ; Harakalova, M; van Haaften, G; Rahman, SA; ... Dattani, MT; + view all Gregory, LC; Ferreira, CB; Young-Baird, SK; Williams, HJ; Harakalova, M; van Haaften, G; Rahman, SA; Gaston-Massuet, C; Kelberman, D; GOSgene, .; Qasim, W; Camper, SA; Dever, TE; Shah, P; Robinson, ICAF; Dattani, MT; - view fewer (2019) Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation. EBioMedicine , 42 pp. 470-480. 10.1016/j.ebiom.2019.03.013.

Gregory, LC; Shah, P; Sanner, JRF; Arancibia, M; Hurst, J; Jones, WD; Spoudeas, H; ... Dattani, MT; + view all Gregory, LC; Shah, P; Sanner, JRF; Arancibia, M; Hurst, J; Jones, WD; Spoudeas, H; Stabej, PLQ; Williams, HJ; Ocaka, LA; Loureiro, C; Martinez-Aguayo, A; Dattani, MT; - view fewer (2019) Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis. The Journal of Clinical Endocrinology & Metabolism , 104 (12) pp. 5737-5750. 10.1210/jc.2019-00631.

Guelfi, Manuel Sebastian; (2019) Regulation of gene expression in human brain using transcriptome sequencing. Doctoral thesis (Ph.D), UCL (University College London).

Guelfi, S; Botia, JA; Thom, M; Ramasamy, A; Perona, M; Stanyer, L; Martinian, L; ... Matarin, M; + view all Guelfi, S; Botia, JA; Thom, M; Ramasamy, A; Perona, M; Stanyer, L; Martinian, L; Trabzuni, D; Smith, C; Walker, R; Ryten, M; Reimers, M; Weale, ME; Hardy, J; Matarin, M; - view fewer (2019) Transcriptomic and genetic analyses reveal potential causal drivers for intractable partial epilepsy. Brain , 142 (6) pp. 1616-1630. 10.1093/brain/awz074.

Hampton-O'Neil, LA; Severn, CE; Cross, SJ; Gurung, S; Nobes, CD; Toye, AM; (2019) Ephrin/Eph Receptor Interaction Facilitates Macrophage Recognition Of Differentiating Human Erythroblasts. Haematologica 10.3324/haematol.2018.215160. (In press).

Haq, N; Schmidt-Hieber, C; Sialana, FJ; Ciani, L; Heller, JP; Stewart, M; Bentley, L; ... Christou-Savina, S; + view all Haq, N; Schmidt-Hieber, C; Sialana, FJ; Ciani, L; Heller, JP; Stewart, M; Bentley, L; Wells, S; Rodenburg, RJ; Nolan, PM; Forsythe, E; Wu, MC; Lubec, G; Salinas, PC; Häusser, M; Beales, PL; Christou-Savina, S; - view fewer (2019) Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons. PLoS Biology , 17 (9) , Article e3000414. 10.1371/journal.pbio.3000414.

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Wei, W; Tuna, S; Keogh, MJ; Smith, KR; Aitman, TJ; Beales, PL; Bennett, DL; ... Chinnery, PF; + view all Wei, W; Tuna, S; Keogh, MJ; Smith, KR; Aitman, TJ; Beales, PL; Bennett, DL; Gale, DP; Bitner-Glindzicz, MAK; Black, GC; Brennan, P; Elliott, P; Flinter, FA; Floto, RA; Houlden, H; Irving, M; Koziell, A; Maher, ER; Markus, HS; Morrell, NW; Newman, WG; Roberts, I; Sayer, JA; Smith, KGC; Taylor, JC; Watkins, H; Webster, AR; Wilkie, AOM; Williamson, C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot; Ashford, S; Penkett, CJ; Stirrups, KE; Rendon, A; Ouwehand, WH; Bradley, JR; Raymond, FL; Caulfield, M; Turro, E; Chinnery, PF; - view fewer (2019) Germline selection shapes human mitochondrial DNA diversity. Science , 364 (6442) , Article eaau6520. 10.1126/science.aau6520.

Wheway, G; Mitchison, H; (2019) Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project. Frontiers in Genetics , 10 , Article 127. 10.3389/fgene.2019.00127.

Wigley, R; Scalco, R S; Gardiner, A R; Godfrey, R; Booth, S; Kirk, R; Hilton-Jones, D; ... Quinlivan, R; + view all Wigley, R; Scalco, R S; Gardiner, A R; Godfrey, R; Booth, S; Kirk, R; Hilton-Jones, D; Houlden, H; Heales, S; Quinlivan, R; - view fewer (2019) The need for biochemical testing in beta‐enolase deficiency in the genomic era. JIMD Reports , 50 (1) pp. 40-43. 10.1002/jmd2.12070.

Yang, Y; van der Klaauw, AA; Zhu, L; Cacciottolo, TM; He, Y; Stadler, LKJ; Wang, C; ... Zhang, W; + view all Yang, Y; van der Klaauw, AA; Zhu, L; Cacciottolo, TM; He, Y; Stadler, LKJ; Wang, C; Xu, P; Saito, K; Hinton, A; Yan, X; Keogh, JM; Henning, E; Banton, MC; Hendricks, AE; Bochukova, EG; Mistry, V; Lawler, KL; Liao, L; Xu, J; O'Rahilly, S; Tong, Q; Barroso, I; O'Malley, BW; Farooqi, IS; Xu, Y; Balasubramanian, S; Clapham, P; Coates, G; Cox, T; Daly, A; Danecek, P; Du, Y; Durbin, R; Edkins, S; Ellis, P; Flicek, P; Guo, X; Guo, X; Huang, L; Jackson, DK; Joyce, C; Keane, T; Kolb-Kokocinski, A; Langford, C; Li, Y; Liang, J; Lin, H; Liu, R; Maslen, J; McCarthy, S; Muddyman, D; Quail, MA; Stalker, J; Sun, J; Tian, J; Wang, G; Wang, J; Wang, Y; Wong, K; Zhang, P; Birney, E; Boustred, C; Brion, M-J; Chen, L; Clement, G; Danecek, P; Smith, GD; Day, INM; Day-Williams, A; Down, T; Dunham, I; Durbin, R; Evans, DM; Fatemifar, G; Gaunt, TR; Geihs, M; Greenwood, CMT; Hart, D; Howie, B; Huang, J; Hubbard, T; Hysi, P; Iotchkova, V; Jamshidi, Y; Kemp, JP; Lachance, G; Lawson, D; Lek, M; Lopes, M; MacArthur, DG; Marchini, J; Massimo, M; Mathieson, I; McCarthy, S; Memari, Y; Metrustry, S; Min, JL; Moayyeri, A; Muddyman, D; Northstone, K; Panoutsopoulou, K; Paternoster, L; Perry, JRB; Quaye, L; Richards, JB; Ring, S; Ritchie, GRS; Schiffels, S; Shihab, HA; Shin, S-Y; Small, KS; Artigas, MS; Soranzo, N; Southam, L; Spector, TD; St Pourcain, B; Surdulescu, G; Tachmazidou, I; Timpson, NJ; Tobin, MD; Valdes, AM; Visscher, PM; Wain, LV; Walter, K; Ward, K; Wilson, SG; Wong, K; Yang, J; Zeggini, E; Zhang, F; Zheng, H-F; Anney, R; Ayub, M; Barrett, JC; Blackwood, D; Bolton, PF; Breen, G; Collier, DA; Craddock, N; Crooks, L; Curran, S; Curtis, D; Durbin, R; Gallagher, L; Geschwind, D; Gurling, H; Holmans, P; Lee, I; Lonnqvist, J; McCarthy, S; McGuffin, P; McIntosh, AM; McKechanie, AG; McQuillin, A; Morris, J; Muddyman, D; O'Donovan, MC; Owen, MJ; Palotie, A; Parr, JR; Paunio, T; Pietilainen, O; Rehnstrom, K; Sharp, SI; Skuse, D; St Clair, D; Suvisaari, J; Walters, JTR; Williams, HJ; Bochukova, E; Bounds, R; Dominiczak, A; Durbin, R; Keogh, J; Marenne, G; McCarthy, S; Morris, A; Muddyman, D; Porteous, DJ; Smith, BH; Tachmazidou, I; Wheeler, E; Zeggini, E; Al Turki, S; Anderson, CA; Antony, D; Beales, P; Bentham, J; Bhattacharya, S; Calissano, M; Carss, K; Chatterjee, K; Cirak, S; Cosgrove, C; Durbin, R; Fitzpatrick, DR; Floyd, J; Foley, AR; Franklin, CS; Futema, M; Grozeva, D; Humphries, SE; Hurles, ME; McCarthy, S; Mitchison, HM; Muddyman, D; Muntoni, F; Onoufriadis, A; Parker, V; Payne, F; Plagnol, V; Raymond, FL; Roberts, N; Savage, DB; Scambler, P; Schmidts, M; Schoenmakers, N; Semple, RK; Serra, E; Spasic-Boskovic, O; Stevens, E; van Kogelenberg, M; Vijayarangakannan, P; Walter, K; Williamson, KA; Wilson, C; Whyte, T; Ciampi, A; Greenwood, CMT; Li, R; Metrustry, S; Oualkacha, K; Tachmazidou, I; Xu, C; Zeggini, E; Bobrow, M; Bolton, PF; Durbin, R; Fitzpatrick, DR; Griffin, H; Hurles, ME; Kaye, J; Kennedy, K; Kent, A; Muddyman, D; Muntoni, F; Raymond, FL; Semple, RK; Smee, C; Spector, TD; Timpson, NJ; Charlton, R; Ekong, R; Futema, M; Humphries, SE; Khawaja, F; Lopes, LR; Migone, N; Payne, SJ; Plagnol, V; Pollitt, RC; Povey, S; Ridout, CK; Robinson, RL; Scott, RH; Shaw, A; Syrris, P; Taylor, R; Vandersteen, AM; Barrett, JC; Smith, GD; Durbin, R; Fitzpatrick, DR; Hurles, ME; Kaye, J; Kennedy, K; Langford, C; McCarthy, S; Muddyman, D; Owen, MJ; Palotie, A; Richards, JB; Soranzo, N; Spector, TD; Stalker, J; Timpson, NJ; Zeggini, E; Amuzu, A; Casas, JP; Chambers, JC; Cocca, M; Dedoussis, G; Gambaro, G; Gasparini, P; Gaunt, TR; Huang, J; Iotchkova, V; Isaacs, A; Johnson, J; Kleber, ME; Kooner, JS; Langenberg, C; Luan, J; Malerba, G; Marz, W; Matchan, A; Min, JL; Morris, R; Nordestgaard, BG; Benn, M; Ring, S; Scott, RA; Soranzo, N; Southam, L; Timpson, NJ; Toniolo, D; Traglia, M; Tybjaerg-Hansen, A; van Duijn, CM; van Leeuwen, EM; Varbo, A; Whincup, P; Zaza, G; Zeggini, E; Zhang, W; - view fewer (2019) Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis. Nature Communications , 10 , Article 1718. 10.1038/s41467-019-08737-6.

2018

Abarrategi, A; Gambera, S; Alfranca, A; Rodriguez-Milla, MA; Perez-Tavarez, R; Rouault-Pierre, K; Waclawiczek, A; ... García-Castro, J; + view all Abarrategi, A; Gambera, S; Alfranca, A; Rodriguez-Milla, MA; Perez-Tavarez, R; Rouault-Pierre, K; Waclawiczek, A; Chakravarty, P; Mulero, F; Trigueros, C; Navarro, S; Bonnet, D; García-Castro, J; - view fewer (2018) c-Fos induces chondrogenic tumor formation in immortalized human mesenchymal progenitor cells. Scientific Reports , 8 , Article 15615. 10.1038/s41598-018-33689-0.

Abarrategi, A; Mian, SA; Passaro, D; Rouault-Pierre, K; Grey, W; Bonnet, D; (2018) Modeling the human bone marrow niche in mice: From host bone marrow engraftment to bioengineering approaches. Journal of Experimental Medicine , 215 (3) pp. 729-743. 10.1084/jem.20172139.

Aguti, S; Malerba, A; Zhou, H; (2018) The progress of AAV-mediated gene therapy in neuromuscular disorders. Expert Opinion on Biological Therapy , 18 (6) pp. 681-693. 10.1080/14712598.2018.1479739.

Al-Olabi, L; Polubothu, S; Dowsett, K; Andrews, KA; Stadnik, P; Joseph, AP; Knox, R; ... Kinsler, VA; + view all Al-Olabi, L; Polubothu, S; Dowsett, K; Andrews, KA; Stadnik, P; Joseph, AP; Knox, R; Pittman, A; Clark, G; Baird, W; Bulstrode, N; Glover, M; Gordon, K; Hargrave, D; Huson, SM; Jacques, TS; James, G; Kondolf, H; Kangesu, L; Keppler-Noreuil, KM; Khan, A; Lindhurst, MJ; Lipson, M; Mansour, S; O'Hara, J; Mahon, C; Mosica, A; Moss, C; Murthy, A; Ong, J; Parker, VE; Rivière, J-B; Sapp, JC; Sebire, NJ; Shah, R; Sivakumar, B; Thomas, A; Virasami, A; Waelchli, R; Zeng, Z; Biesecker, LG; Barnacle, A; Topf, M; Semple, RK; Patton, EE; Kinsler, VA; - view fewer (2018) Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy. The Journal of Clinical Investigation , 128 (4) pp. 1496-1508. 10.1172/JCI98589.

Aldossary, Ahmad Mohammad; (2018) Correction of the ΔF508 mutation in the CFTR Gene by CRISPR/Cas9 system. Doctoral thesis (Ph.D), UCL (University College London).

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Augustin, K; Khabbush, A; Williams, S; Eaton, SJ; Orford, M; Cross, H; Heales, SJ; ... Williams, R; + view all Augustin, K; Khabbush, A; Williams, S; Eaton, SJ; Orford, M; Cross, H; Heales, SJ; Walker, M; Williams, R; - view fewer (2018) Mechanisms of action for the medium-chain triglyceride ketogenic diet in neurological and metabolic disorders. The Lancet Neurology , 17 (1) pp. 84-93. 10.1016/S1474-4422(17)30408-8.

Baruteau, J; Perocheau, DP; Hanley, J; Lorvellec, M; Rocha-Ferreira, E; Karda, R; Ng, J; ... Waddington, SN; + view all Baruteau, J; Perocheau, DP; Hanley, J; Lorvellec, M; Rocha-Ferreira, E; Karda, R; Ng, J; Suff, N; Diaz, JA; Rahim, AA; Hughes, MP; Banushi, B; Prunty, H; Hristova, M; Ridout, DA; Virasami, A; Heales, S; Howe, SJ; Buckley, SMK; Mills, PB; Gissen, P; Waddington, SN; - view fewer (2018) Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer. Nature Communications , 9 (1) , Article 3505. 10.1038/s41467-018-05972-1.

Bashamboo, A; Eozenou, C; Jorgensen, A; Bignon-Topalovic, J; Siffroi, J-P; Hyon, C; Tar, A; ... McElreavey, K; + view all Bashamboo, A; Eozenou, C; Jorgensen, A; Bignon-Topalovic, J; Siffroi, J-P; Hyon, C; Tar, A; Nagy, P; Sólyom, J; Halász, Z; Paye-Jaouen, A; Lambert, S; Rodriguez-Buritica, D; Bertalan, R; Martinerie, L; Rajpert-De Meyts, E; Achermann, JC; McElreavey, K; - view fewer (2018) Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children. The American Journal of Human Genetics , 102 (3) pp. 487-493. 10.1016/j.ajhg.2018.01.021.

Besser, REJ; Ludvigsson, J; Hindmarsh, PC; Cole, TJ; (2018) Exploring C-peptide loss in type 1 diabetes using growth curve analysis. PLoS ONE , 13 (7) , Article e0199635. 10.1371/journal.pone.0199635.

Best, S; Shoemark, A; Rubbo, B; Patel, MP; Fassad, MR; Dixon, M; Rogers, AV; ... Hogg, C; + view all Best, S; Shoemark, A; Rubbo, B; Patel, MP; Fassad, MR; Dixon, M; Rogers, AV; Hirst, RA; Rutman, A; Ollosson, S; Jackson, CL; Goggin, P; Thomas, S; Pengelly, R; Cullup, T; Pissaridou, E; Hayward, J; Onoufriadis, A; O'Callaghan, C; Loebinger, MR; Wilson, R; Chung, EM; Kenia, P; Doughty, VL; Carvalho, JS; Lucas, JS; Mitchison, HM; Hogg, C; - view fewer (2018) Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia. Thorax , 74 (2) 10.1136/thoraxjnl-2018-212104.

Blauwendraat, C; Kia, DA; Pihlstrom, L; Gan-Or, Z; Lesage, S; Gibbs, JR; Ding, J; ... Wood, NW; + view all Blauwendraat, C; Kia, DA; Pihlstrom, L; Gan-Or, Z; Lesage, S; Gibbs, JR; Ding, J; Alcalay, RN; Hassin-Baer, S; Pittman, AM; Brooks, J; Edsall, C; Chung, SJ; Goldwurm, S; Toft, M; Schulte, C; Hernandez, D; Singleton, AB; Nalls, MA; Brice, A; Scholz, SW; Wood, NW; - view fewer (2018) Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease. Neurobiology of Aging , 64 159.e5-159.e8. 10.1016/j.neurobiolaging.2017.12.012.

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Blundell, J; Frisson, S; Chakrapani, A; Kearney, S; Vijay, S; MacDonald, A; Gissen, P; ... Olson, A; + view all Blundell, J; Frisson, S; Chakrapani, A; Kearney, S; Vijay, S; MacDonald, A; Gissen, P; Hendriksz, C; Olson, A; - view fewer (2018) Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III. Cognitive Neuropsychology , 35 (3-4) pp. 120-147. 10.1080/02643294.2018.1443913.

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Brookes, KJ; McConnell, G; Williams, K; Chaudhury, S; Madhan, G; Patel, T; Turley, C; ... Morgan, K; + view all Brookes, KJ; McConnell, G; Williams, K; Chaudhury, S; Madhan, G; Patel, T; Turley, C; Guetta-Baranes, T; Bras, J; Guerreiro, R; Hardy, J; Francis, PT; Morgan, K; - view fewer (2018) Genotyping of the Alzheimer's Disease Genome-Wide Association Study Index Single Nucleotide Polymorphisms in the Brains for Dementia Research Cohort. Journal of Alzheimer's Disease , 64 (2) pp. 355-362. 10.3233/JAD-180191.

Bryant, D; Liu, Y; Datta, S; Hariri, H; Seda, M; Anderson, G; Peskett, E; ... Stanier, PM; + view all Bryant, D; Liu, Y; Datta, S; Hariri, H; Seda, M; Anderson, G; Peskett, E; Demetriou, C; Sousa, S; Jenkins, D; Clayton, P; Bitner-Glindzicz, M; Moore, GE; Henne, WM; Stanier, PM; - view fewer (2018) SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20. Human Molecular Genetics , 27 (11) pp. 1927-1940. 10.1093/hmg/ddy101.

Calmont, A; Anderson, N; Suntharalingham, JP; Ang, R; Tinker, A; Scambler, PJ; (2018) Defective Vagal Innervation in Murine Tbx1 Mutant Hearts. Journal of Cardiovascular Development and Disease , 5 (4) , Article 49. 10.3390/jcdd5040049.

Captur, G; Arbustini, E; Bonne, G; Syrris, P; Mills, K; Wahbi, K; Mohiddin, SA; ... Moon, JC; + view all Captur, G; Arbustini, E; Bonne, G; Syrris, P; Mills, K; Wahbi, K; Mohiddin, SA; McKenna, WJ; Pettit, S; Ho, CY; Muchir, A; Gissen, P; Elliott, PM; Moon, JC; - view fewer (2018) Lamin and the heart. Heart , 104 (6) pp. 468-479. 10.1136/heartjnl-2017-312338.

Cetinkaya, S; Guran, T; Kurnaz, E; Keskin, M; Sagsak, E; Erdeve, SS; Suntharalingham, JP; ... Aycan, Z; + view all Cetinkaya, S; Guran, T; Kurnaz, E; Keskin, M; Sagsak, E; Erdeve, SS; Suntharalingham, JP; Buonocore, F; Achermann, JC; Aycan, Z; - view fewer (2018) A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make. Journal of Clinical Research in Pediatric Endocrinology , 10 (1) pp. 68-73. 10.4274/jcrpe.4638.

Chagraoui, H; Kristiansen, MS; Ruiz, JP; Serra-Barros, A; Richter, J; Hall-Ponselé, E; Gray, N; ... Porcher, C; + view all Chagraoui, H; Kristiansen, MS; Ruiz, JP; Serra-Barros, A; Richter, J; Hall-Ponselé, E; Gray, N; Waithe, D; Clark, K; Hublitz, P; Repapi, E; Otto, G; Sopp, P; Taylor, S; Thongjuea, S; Vyas, P; Porcher, C; - view fewer (2018) SCL/TAL1 cooperates with Polycomb RYBP-PRC1 to suppress alternative lineages in blood-fated cells. Nature Communications , 9 , Article 5375. 10.1038/s41467-018-07787-6.

Chandler, N; Best, S; Hayward, J; Faravelli, F; Mansour, S; Kivuva, E; Tapon, D; ... Chitty, LS; + view all Chandler, N; Best, S; Hayward, J; Faravelli, F; Mansour, S; Kivuva, E; Tapon, D; Male, A; DeVile, C; Chitty, LS; - view fewer (2018) Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management. Genetics in Medicine , 20 pp. 1430-1437. 10.1038/gim.2018.30.

Clayton, PT; Mills, PB; (2018) Micronutrients: Speculation on Inborn Errors, Nutrigenomics, Evolution, the Microbiome, and Nutritional Immunity. Journal of Inborn Errors of Metabolism and Screening , 6 (1-5) 10.1177/2326409818765011.

Coats, CJ; Heywood, WE; Virasami, A; Ashrafi, N; Syrris, P; dos Remedios, C; Treibel, TA; ... Elliott, PM; + view all Coats, CJ; Heywood, WE; Virasami, A; Ashrafi, N; Syrris, P; dos Remedios, C; Treibel, TA; Moon, JC; Lopes, LR; McGregor, CGA; Ashworth, M; Sebire, NJ; McKenna, WJ; Mills, K; Elliott, PM; - view fewer (2018) Proteomic Analysis of the Myocardium in Hypertrophic Obstructive Cardiomyopathy. Circulation: Genomic and Precision Medicine , 11 (12) , Article e001974. 10.1161/CIRCGEN.117.001974.

Counsell, JR; Karda, R; Diaz, JA; Carey, L; Wiktorowicz, T; Buckley, SMK; Ameri, S; ... Howe, SJ; + view all Counsell, JR; Karda, R; Diaz, JA; Carey, L; Wiktorowicz, T; Buckley, SMK; Ameri, S; Ng, J; Baruteau, J; Almeida, F; de Silva, R; Simone, R; Lugarà, E; Lignani, G; Lindemann, D; Rethwilm, A; Rahim, AA; Waddington, SN; Howe, SJ; - view fewer (2018) Foamy Virus Vectors Transduce Visceral Organs and Hippocampal Structures following In Vivo Delivery to Neonatal Mice. Molecular Therapy - Nucleic Acids , 12 pp. 626-634. 10.1016/j.omtn.2018.07.006.

Danyukova, T; Ariunbat, K; Thelen, M; Brocke-Ahmadinejad, N; Mole, SE; Storch, S; (2018) Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation. Human Molecular Genetics , 27 (10) pp. 1711-1722. 10.1093/hmg/ddy076.

Davies, Rosalind Jane; (2018) Advancing our understanding of the ciliopathy, Bardet-Biedl Syndrome: an omics approach. Doctoral thesis (Ph.D), UCL (University College London).

Davy, T; Castellano, S; (2018) The genomics of selenium: Its past, present and future. Biochimica et Biophysica Acta (BBA) - General Subjects , 1862 (11) pp. 2427-2432. 10.1016/j.bbagen.2018.05.020.

de la Rosa Carrillo, D; Vindenes, H; Kinsler, VA; Rønnestad, A; Ringstad, G; Müller, L-SO; Tafjord, S; ... Clausen, OPF; + view all de la Rosa Carrillo, D; Vindenes, H; Kinsler, VA; Rønnestad, A; Ringstad, G; Müller, L-SO; Tafjord, S; Tønseth, KA; Kvamme, B; Clausen, OPF; - view fewer (2018) Aggressive melanoma in an infant with congenital melanocytic nevus syndrome and multiple, NRAS and BRAF mutation‐negative nodules. Pediatric Dermatology , 35 (5) e281-e285. 10.1111/pde.13595.

de Rooy, RLP; Halbertsma, FJ; Struijs, EA; van Spronsen, FJ; Lunsing, RJ; Schippers, HM; van Hasselt, PM; ... Bok, LA; + view all de Rooy, RLP; Halbertsma, FJ; Struijs, EA; van Spronsen, FJ; Lunsing, RJ; Schippers, HM; van Hasselt, PM; Plecko, B; Wohlrab, G; Whalen, S; Benoist, JF; Valence, S; Mills, PB; Bok, LA; - view fewer (2018) Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome? European Journal of Paediatric Neurology , 22 (4) pp. 662-666. 10.1016/j.ejpn.2018.03.009.

Doreste Gonzalez, Bruno; (2018) The effect of modulating the dystrophic skeletal muscle environment on satellite cell engraftment. Doctoral thesis (Ph.D), UCL (University College London).

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Farley, H; Rubbo, B; Bukowy-Bieryllo, Z; Fassad, M; Goutaki, M; Harman, K; Hogg, C; ... Marthin, JK; + view all Farley, H; Rubbo, B; Bukowy-Bieryllo, Z; Fassad, M; Goutaki, M; Harman, K; Hogg, C; Kuehni, CE; Lopes, S; Nielsen, KG; Norris, DP; Reula, A; Rumman, N; Shoemark, A; Wilkins, H; Wisse, A; Lucas, JS; Marthin, JK; - view fewer (2018) Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School. In: Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School. BMC (BioMed Central): London, UK.

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Stokman, MF; van der Zwaag, B; van de Kar, NCAJ; van Haelst, MM; van Eerde, AM; van der Heijden, JW; Kroes, HY; ... Lilien, MR; + view all Stokman, MF; van der Zwaag, B; van de Kar, NCAJ; van Haelst, MM; van Eerde, AM; van der Heijden, JW; Kroes, HY; Ippel, E; Schulp, AJA; van Gassen, KL; van Rooij, IALM; Giles, RH; Beales, PL; Roepman, R; Arts, HH; Bongers, EMHF; Renkema, KY; Knoers, NVAM; van Reeuwijk, J; Lilien, MR; - view fewer (2018) Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy. Pediatric Nephrology , 33 (10) pp. 1701-1712. 10.1007/s00467-018-3958-7.

Stone, TJ; Keeley, A; Virasami, A; Harkness, W; Tisdall, M; Izquierdo Delgado, E; Gutteridge, A; ... Jacques, TS; + view all Stone, TJ; Keeley, A; Virasami, A; Harkness, W; Tisdall, M; Izquierdo Delgado, E; Gutteridge, A; Brooks, T; Kristiansen, M; Chalker, J; Wilkhu, L; Mifsud, W; Apps, J; Thom, M; Hubank, M; Forshew, T; Cross, JH; Hargrave, D; Ham, J; Jacques, TS; - view fewer (2018) Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours. Acta Neuropathologica , 135 (1) pp. 115-129. 10.1007/s00401-017-1773-z.

Studniarczyk, D; Needham, E; Mitchison, H; Farrant, M; Cull-Candy, S; (2018) Altered Cerebellar Short-Term Plasticity but No Change in Postsynaptic AMPA-Type Glutamate Receptors in a Mouse Model of Juvenile Batten Disease. eNeuro , 5 (2) , Article e0387. 10.1523/ENEURO.0387-17.2018.

Suff, N; Karda, R; Antinao Diaz, J; Ng, J; Baruteau, J; Perocheau, D; Tangney, M; ... Waddington, SN; + view all Suff, N; Karda, R; Antinao Diaz, J; Ng, J; Baruteau, J; Perocheau, D; Tangney, M; Taylor, P; Peebles, D; Buckley, SMK; Waddington, SN; - view fewer (2018) Ascending Vaginal Infection Using Bioluminescent Bacteria Evokes Intrauterine Inflammation, Preterm Birth and Neonatal Brain Injury in Pregnant Mice. American Journal of Pathology , 188 (10) pp. 2164-2176. 10.1016/j.ajpath.2018.06.016.

Tachner, M; Lorentzen, A; Maurao, A; Collins, T; Freke, G; Moulding, D; Bsquin, J; ... Lorentzen, E; + view all Tachner, M; Lorentzen, A; Maurao, A; Collins, T; Freke, G; Moulding, D; Bsquin, J; Jenkins, D; Lorentzen, E; - view fewer (2018) Crystal structure of intraflagellar transport protein 80 reveals a homo-dimer required for ciliogenesis. eLife , 7 , Article e33067. 10.7554/eLife.33067.

Tagalakis, AD; Munye, MM; Ivanova, R; Chen, H; Smith, CM; Aldossary, AM; Rosa, LZ; ... Hart, SL; + view all Tagalakis, AD; Munye, MM; Ivanova, R; Chen, H; Smith, CM; Aldossary, AM; Rosa, LZ; Moulding, D; Barnes, JL; Kafetzis, KN; Jones, SA; Baines, DL; Moss, GWJ; O'Callaghan, C; McAnulty, RJ; Hart, SL; - view fewer (2018) Effective silencing of ENaC by siRNA delivered with epithelial-targeted nanocomplexes in human cystic fibrosis cells and in mouse lung. Thorax , 73 (9) pp. 847-856. 10.1136/thoraxjnl-2017-210670.

Thomas, AC; Heux, P; Santos, C; Arulvasan, W; Solanky, N; Carey, ME; Gerrelli, D; ... Etchevers, HC; + view all Thomas, AC; Heux, P; Santos, C; Arulvasan, W; Solanky, N; Carey, ME; Gerrelli, D; Kinsler, VA; Etchevers, HC; - view fewer (2018) Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development. Birth Defects Research , 110 (5) pp. 443-455. 10.1002/bdr2.1183.

Tranebjærg, L; Strenzke, N; Lindholm, S; Rendtorff, ND; Poulsen, H; Khandelia, H; Kopec, W; ... Bitner-Glindzicz, M; + view all Tranebjærg, L; Strenzke, N; Lindholm, S; Rendtorff, ND; Poulsen, H; Khandelia, H; Kopec, W; Lyngbye, TJB; Hamel, C; Delettre, C; Bocquet, B; Bille, M; Owen, HH; Bek, T; Jensen, H; Østergaard, K; Möller, C; Luxon, L; Carr, L; Wilson, L; Rajput, K; Sirimanna, T; Harrop-Griffiths, K; Rahman, S; Vona, B; Doll, J; Haaf, T; Bartsch, O; Rosewich, H; Moser, T; Bitner-Glindzicz, M; - view fewer (2018) The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management. Human Genetics , 137 (2) pp. 111-127. 10.1007/s00439-017-1862-z.

Tuijnenburg, P; Lango Allen, H; Burns, SO; Greene, D; Jansen, MH; Staples, E; Stephens, J; ... NIHR-BioResource – Rare Diseases Consortium, .; + view all Tuijnenburg, P; Lango Allen, H; Burns, SO; Greene, D; Jansen, MH; Staples, E; Stephens, J; Carss, KJ; Biasci, D; Baxendale, H; Thomas, M; Chandra, A; Kiani-Alikhan, S; Longhurst, HJ; Seneviratne, SL; Oksenhendler, E; Simeoni, I; de Bree, GJ; Tool, ATJ; van Leeuwen, EMM; Ebberink, EHTM; Meijer, AB; Tuna, S; Whitehorn, D; Brown, M; Turro, E; Thrasher, AJ; Smith, KGC; Thaventhiran, JE; Kuijpers, TW; NIHR-BioResource – Rare Diseases Consortium, .; - view fewer (2018) Loss of function NFKB1 variants are the most common monogenic cause of CVID in Europeans. Journal of Allergy and Clinical Immunology , 142 (4) pp. 1285-1296. 10.1016/j.jaci.2018.01.039.

Verity, C; Winstone, AM; Will, R; Powell, A; Baxter, P; de Sousa, C; Gissen, P; ... Zuberi, S; + view all Verity, C; Winstone, AM; Will, R; Powell, A; Baxter, P; de Sousa, C; Gissen, P; Kurian, M; Livingston, J; McFarland, R; Pal, S; Pike, M; Robinson, R; Wassmer, E; Zuberi, S; - view fewer (2018) Surveillance for variant CJD: should more children with neurodegenerative diseases have autopsies? Archives of Disease in Childhood 10.1136/archdischild-2018-315458. (In press).

Volpato, V; Smith, J; Sandor, C; Ried, JS; Baud, A; Handel, A; Newey, SE; ... Lakics, V; + view all Volpato, V; Smith, J; Sandor, C; Ried, JS; Baud, A; Handel, A; Newey, SE; Wessely, F; Attar, M; Whiteley, E; Chintawar, S; Verheyen, A; Barta, T; Lako, M; Armstrong, L; Muschet, C; Artati, A; Cusulin, C; Christensen, K; Patsch, C; Sharma, E; Nicod, J; Brownjohn, P; Stubbs, V; Heywood, WE; Gissen, P; De Filippis, R; Janssen, K; Reinhardt, P; Adamski, J; Royaux, I; Peeters, PJ; Terstappen, GC; Graf, M; Livesey, FJ; Akerman, CJ; Mills, K; Bowden, R; Nicholson, G; Webber, C; Cader, MZ; Lakics, V; - view fewer (2018) Reproducibility of Molecular Phenotypes after Long-Term Differentiation to Human iPSC-Derived Neurons: A Multi-Site Omics Study. Stem Cell Reports , 11 (4) pp. 897-911. 10.1016/j.stemcr.2018.08.013.

Whelan, CD; Altmann, A; Botía, JA; Jahanshad, N; Hibar, DP; Absil, J; Alhusaini, S; ... Sisodiya, SM; + view all Whelan, CD; Altmann, A; Botía, JA; Jahanshad, N; Hibar, DP; Absil, J; Alhusaini, S; Alvim, MKM; Auvinen, P; Bartolini, E; Bergo, FPG; Bernardes, T; Blackmon, K; Braga, B; Caligiuri, ME; Calvo, A; Carr, SJ; Chen, J; Chen, S; Cherubini, A; David, P; Domin, M; Foley, S; França, W; Haaker, G; Isaev, D; Keller, SS; Kotikalapudi, R; Kowalczyk, MA; Kuzniecky, R; Langner, S; Lenge, M; Leyden, KM; Liu, M; Loi, RQ; Martin, P; Mascalchi, M; Morita, ME; Pariente, JC; Rodríguez-Cruces, R; Rummel, C; Saavalainen, T; Semmelroch, MK; Severino, M; Thomas, RH; Tondelli, M; Tortora, D; Vaudano, AE; Vivash, L; von Podewils, F; Wagner, J; Weber, B; Yao, Y; Yasuda, CL; Zhang, G; Bargalló, N; Bender, B; Bernasconi, N; Bernasconi, A; Bernhardt, BC; Blümcke, I; Carlson, C; Cavalleri, GL; Cendes, F; Concha, L; Delanty, N; Depondt, C; Devinsky, O; Doherty, CP; Focke, NK; Gambardella, A; Guerrini, R; Hamandi, K; Jackson, GD; Kälviäinen, R; Kochunov, P; Kwan, P; Labate, A; McDonald, CR; Meletti, S; O'Brien, TJ; Ourselin, S; Richardson, MP; Striano, P; Thesen, T; Wiest, R; Zhang, J; Vezzani, A; Ryten, M; Thompson, PM; Sisodiya, SM; - view fewer (2018) Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study. Brain , 141 (2) pp. 391-408. 10.1093/brain/awx341.

Whitworth, J; Smith, PS; Martin, J-E; West, H; Luchetti, A; Rodger, F; Clark, G; ... Maher, ER; + view all Whitworth, J; Smith, PS; Martin, J-E; West, H; Luchetti, A; Rodger, F; Clark, G; Carss, K; Stephens, J; Stirrups, K; Penkett, C; Mapeta, R; Ashford, S; Megy, K; Shakeel, H; Ahmed, M; Adlard, J; Barwell, J; Brewer, C; Casey, RT; Armstrong, R; Cole, T; Evans, DG; Fostira, F; Greenhalgh, L; Hanson, H; Henderson, A; Hoffman, J; Izatt, L; Kumar, A; Kwong, A; Lalloo, F; Ong, KR; Paterson, J; Park, S-M; Chen-Shtoyerman, R; Searle, C; Side, L; Skytte, A-B; Snape, K; Woodward, ER; NIHR BioResource Rare Diseases Consortium; Tischkowitz, MD; Maher, ER; - view fewer (2018) Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. The American Journal of Human Genetics , 103 (1) pp. 3-18. 10.1016/j.ajhg.2018.04.013.

Yu-Wai-Man, C; Fernando, O; Tagalakis, A; Hart, S; Khaw, PT; (2018) Development of targeted siRNA nanotherapeutics to prevent fibrosis in experimental glaucoma filtration surgery. Presented at: ARVO Annual Meeting 2018, Honolulu, Hawaii.

Zhang, M; Ferrari, R; Tartaglia, MC; Keith, J; Surace, EI; Wolf, U; Sato, C; ... International FTD-Genomics Consortium (IFGC), .; + view all Zhang, M; Ferrari, R; Tartaglia, MC; Keith, J; Surace, EI; Wolf, U; Sato, C; Grinberg, M; Liang, Y; Xi, Z; Dupont, K; McGoldrick, P; Weichert, A; McKeever, PM; Schneider, R; McCorkindale, MD; Manzoni, C; Rademakers, R; Graff-Radford, NR; Dickson, DW; Parisi, JE; Boeve, BF; Petersen, RC; Miller, BL; Seeley, WW; van Swieten, JC; van Rooij, J; Pijnenburg, Y; van der Zee, J; Van Broeckhoven, C; Le Ber, I; Van Deerlin, V; Suh, E; Rohrer, JD; Mead, S; Graff, C; Öijerstedt, L; Pickering-Brown, S; Rollinson, S; Rossi, G; Tagliavini, F; Brooks, WS; Dobson-Stone, C; Halliday, GM; Hodges, JR; Piguet, O; Binetti, G; Benussi, L; Ghidoni, R; Nacmias, B; Sorbi, S; Bruni, AC; Galimberti, D; Scarpini, E; Rainero, I; Rubino, E; Clarimon, J; Lleó, A; Ruiz, A; Hernández, I; Pastor, P; Diez-Fairen, M; Borroni, B; Pasquier, F; Deramecourt, V; Lebouvier, T; Perneczky, R; Diehl-Schmid, J; Grafman, J; Huey, ED; International FTD-Genomics Consortium (IFGC), .; Mayeux, R; Nalls, MA; Hernandez, D; Singleton, A; Momeni, P; Zeng, Z; Hardy, J; Robertson, J; Zinman, L; Rogaeva, E; International FTD-Genomics Consortium (IFGC), .; - view fewer (2018) A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers. Brain , 141 (10) pp. 2895-2907. 10.1093/brain/awy238.

Zhou, H; Muntoni, F; (2018) Morpholino-Mediated Exon Inclusion for SMA. Exon Skipping and Inclusion Therapies , 1828 pp. 467-477. 10.1007/978-1-4939-8651-4_29.

2017

Abarrategi, A; Foster, K; Hamilton, A; Mian, SA; Passaro, D; Gribben, J; Mufti, G; Abarrategi, A; Foster, K; Hamilton, A; Mian, SA; Passaro, D; Gribben, J; Mufti, G; Bonnet, D; - view fewer (2017) Versatile humanized niche model enables study of normal and malignant human hematopoiesis. Journal of Clinical Investigation , 127 (2) pp. 543-548. 10.1172/JCI89364.

Achermann, JC; Schwabe, J; Fairall, L; Chatterjee, K; (2017) Genetic disorders of nuclear receptors. Journal of Clinical Investigation , 127 (4) pp. 1181-1192. 10.1172/JCI88892.

Al Shahrani, M; Heales, S; Hargreaves, I; Orford, M; (2017) Oxidative Stress: Mechanistic Insights into Inherited Mitochondrial Disorders and Parkinson's Disease. Journal Of Clinical Medicine , 6 (11) , Article 100. 10.3390/jcm6110100.

Al-Olabi, L; Polubothu, S; Dowsett, K; Andrews, KA; Stadnik, P; Joseph, AP; Knox, R; ... Kinsler, VA; + view all Al-Olabi, L; Polubothu, S; Dowsett, K; Andrews, KA; Stadnik, P; Joseph, AP; Knox, R; Pittman, A; Clark, G; Barid, W; Bulstrode, N; Glover, M; Gordon, K; Hargrave, D; Huson, SM; Jacques, TS; James, G; Kondolf, H; Kangesu, L; Keppler-Noreuil, KM; Khan, A; Lindhurst, JM; Lipson, M; Mansour, S; O'Hara, J; Mahon, C; Mosica, A; Moss, C; Murthy, A; Ong, J; Parker, V; Rivière, JP; Sapp, JC; Sebire, NJ; Shah, R; Sivakumar, B; Thomas, A; Virasami, A; Waelchli, R; Zeng, Z; Biesecker, LG; Barnacle, A; Topf, M; Semple, R; Patton, EE; Kinsler, VA; - view fewer (2017) C2.2 Postzygotic activating variants in mapk pathway genes cause intracranial and extracranial vascular malformations that respond to targeted inhibition. Presented at: Great Ormond Street Hospital Conference, London, UK.

Antony, D; Nampoory, N; Bacchelli, C; Melhem, M; Wu, K; James, CT; Beales, PL; ... Alsmadi, O; + view all Antony, D; Nampoory, N; Bacchelli, C; Melhem, M; Wu, K; James, CT; Beales, PL; Hubank, M; Thomas, D; Mashankar, A; Behbehani, K; Schmidts, M; Alsmadi, O; - view fewer (2017) Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature. [Review]. European Journal of Medical Genetics , 60 (12) pp. 658-666. 10.1016/j.ejmg.2017.08.019.

Arber, C; Angelova, PR; Wiethoff, S; Tsuchiya, Y; Mazzacuva, F; Preza, E; Bhatia, KP; ... Wray, S; + view all Arber, C; Angelova, PR; Wiethoff, S; Tsuchiya, Y; Mazzacuva, F; Preza, E; Bhatia, KP; Mills, K; Gout, I; Abramov, AY; Hardy, J; Duce, JA; Houlden, H; Wray, S; - view fewer (2017) iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease. PLoS One , 12 (9) , Article e0184104. 10.1371/journal.pone.0184104.

Arno, G; Carss, KJ; Hull, S; Zihni, C; Robson, AG; Fiorentino, A; Hardcastle, AJ; ... Yu, P; + view all Arno, G; Carss, KJ; Hull, S; Zihni, C; Robson, AG; Fiorentino, A; Hardcastle, AJ; Holder, GE; Cheetham, ME; Plagnol, V; Moore, AT; Raymond, FL; Matter, K; Balda, MS; Webster, AR; Black, G; Hall, G; Ingram, S; Gillespie, R; Manson, F; Sergouniotis, P; Inglehearn, C; Toomes, C; Ali, M; McKibbin, M; Poulter, J; Khan, K; Lord, E; Nemeth, A; Downes, S; Halford, S; Yu, J; Lise, S; Arno, G; Fiorentino, A; Ponitkos, N; Plagnol, V; Michaelides, M; Hardcastle, AJ; Cheetham, ME; Webster, AR; van Heyningen, V; Aitman, T; Alachkar, H; Ali, S; Allen, L; Allsup, D; Ambegaonkar, G; Anderson, J; Antrobus, R; Armstrong, R; Arno, G; Arumugakani, G; Ashford, S; Astle, W; Attwood, A; Austin, S; Bacchelli, C; Bakchoul, T; Bariana, TK; Baxendale, H; Bennett, D; Bethune, C; Bibi, S; Bitner-Glindzicz, M; Bleda, M; Boggard, H; Bolton-Maggs, P; Booth, C; Bradley, JR; Brady, A; Brown, M; Browning, M; Bryson, C; Burns, S; Calleja, P; Canham, N; Carmichael, J; Carss, K; Caulfield, M; Chalmers, E; Chandra, A; Chinnery, P; Chitre, M; Church, C; Clement, E; Clements-Brod, N; Clowes, V; Coghlan, G; Collins, P; Cooper, N; Creaser-Myers, A; DaCosta, R; Daugherty, L; Davies, S; Davis, J; De Vries, M; Deegan, P; Deevi, SVV; Deshpande, C; Devlin, L; Dewhurst, E; Doffinger, R; Dormand, N; Drewe, E; Edgar, D; Egner, W; Erber, WN; Erwood, M; Everington, T; Favier, R; Firth, H; Fletcher, D; Flinter, F; Fox, JC; Frary, A; Freson, K; Furie, B; Furnell, A; Gale, D; Gardham, A; Gattens, M; Ghali, N; Ghataorhe, PK; Ghurye, R; Gibbs, S; Gilmour, K; Gissen, P; Goddard, S; Gomez, K; Gordins, P; Gräf, S; Greene, D; Greenhalgh, A; Greinacher, A; Grigoriadou, S; Grozeva, D; Hackett, S; Hadinnapola, C; Hague, R; Haimel, M; Halmagyi, C; Hammerton, T; Hart, D; Hayman, G; Heemskerk, JWM; Henderson, R; Hensiek, A; Henskens, Y; Herwadkar, A; Holden, S; Holder, M; Holder, S; Hu, F; Huissoon, A; Humbert, M; Hurst, J; James, R; Jolles, S; Josifova, D; Kazmi, R; Keeling, D; Kelleher, P; Kelly, AM; Kennedy, F; Kiely, D; Kingston, N; Koziell, A; Krishnakumar, D; Kuijpers, TW; Kumararatne, D; Kurian, M; Laffan, MA; Lambert, MP; Allen, HL; Lawrie, A; Lear, S; Lees, M; Lentaigne, C; Liesner, R; Linger, R; Longhurst, H; Lorenzo, L; Machado, R; Mackenzie, R; MacLaren, R; Maher, E; Maimaris, J; Mangles, S; Manson, A; Mapeta, R; Markus, HS; Martin, J; Masati, L; Mathias, M; Matser, V; Maw, A; McDermott, E; McJannet, C; Meacham, S; Meehan, S; Megy, K; Mehta, S; Michaelides, M; Millar, CM; Moledina, S; Moore, A; Morrell, N; Mumford, A; Murng, S; Murphy, E; Nejentsev, S; Noorani, S; Nurden, P; Oksenhendler, E; Ouwehand, WH; Papadia, S; Park, S-M; Parker, A; Pasi, J; Patch, C; Paterson, J; Payne, J; Peacock, A; Peerlinck, K; Penkett, CJ; Pepke-Zaba, J; Perry, DJ; Pollock, V; Polwarth, G; Ponsford, M; Qasim, W; Quinti, I; Rankin, S; Rankin, J; Raymond, FL; Rehnstrom, K; Reid, E; Rhodes, CJ; Richards, M; Richardson, S; Richter, A; Roberts, I; Rondina, M; Rosser, E; Roughley, C; Rue-Albrecht, K; Samarghitean, C; Sanchis-Juan, A; Sandford, R; Santra, S; Sargur, R; Savic, S; Schulman, S; Schulze, H; Scott, R; Scully, M; Seneviratne, S; Sewell, C; Shamardina, O; Shipley, D; Simeoni, I; Sivapalaratnam, S; Smith, K; Sohal, A; Southgate, L; Staines, S; Staples, E; Stauss, H; Stein, P; Stephens, J; Stirrups, K; Stock, S; Suntharalingam, J; Tait, RC; Talks, K; Tan, Y; Thachil, J; Thaventhiran, J; Thomas, E; Thomas, M; Thompson, D; Thrasher, A; Tischkowitz, M; Titterton, C; Toh, C-H; Toshner, M; Treacy, C; Trembath, R; Tuna, S; Turek, W; Turro, E; Van Geet, C; Veltman, M; Vogt, J; von Ziegenweldt, J; Noordegraaf, AV; Wakeling, E; Wanjiku, I; Warner, TQ; Wassmer, E; Watkins, H; Webster, A; Welch, S; Westbury, S; Wharton, J; Whitehorn, D; Wilkins, M; Willcocks, L; Williamson, C; Woods, G; Wort, J; Yeatman, N; Yong, P; Young, T; Yu, P; - view fewer (2017) Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. The American Journal of Human Genetics , 100 (2) pp. 334-342. 10.1016/j.ajhg.2016.12.014.

Bacchelli, C; Moretti, FA; Carmo, M; Adams, S; Stanescu, HC; Pearce, K; Madkaikar, M; ... Gaspar, HB; + view all Bacchelli, C; Moretti, FA; Carmo, M; Adams, S; Stanescu, HC; Pearce, K; Madkaikar, M; Gilmour, KC; Nicholas, AK; Woods, CG; Kleta, R; Beales, PL; Qasim, W; Gaspar, HB; - view fewer (2017) Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency. Journal of Allergy and Clinical Immunology , 139 (2) pp. 634-642. 10.1016/j.jaci.2016.05.036.

Bamber, Andrew Richard; (2017) A proteomic approach to determining cause of death in sudden unexpected death in infancy (SUDI). Doctoral thesis (M.D(Res)), UCL (University College London).

Baranski Lamback, E; Morandi, G; Rapti, E; Christov, G; Brogan, PA; Hindmarsh, P; (2017) Addison's disease presenting with perimyocarditis. Journal of Pediatric Endocrinology and Metabolism , 31 (1) pp. 101-105. 10.1515/jpem-2017-0278.

Baruteau, J; Jameson, E; Morris, AA; Chakrapani, A; Santra, S; Vijay, S; Kocadag, H; ... Davison, JE; + view all Baruteau, J; Jameson, E; Morris, AA; Chakrapani, A; Santra, S; Vijay, S; Kocadag, H; Beesley, CE; Grunewald, S; Murphy, E; Cleary, M; Mundy, H; Abulhoul, L; Broomfield, A; Lachmann, R; Rahman, Y; Robinson, PH; MacPherson, L; Foster, K; Chong, WK; Ridout, DA; Bounford, KM; Waddington, SN; Mills, PB; Gissen, P; Davison, JE; - view fewer (2017) Expanding the phenotype in argininosuccinic aciduria: need for new therapies. Journal of Inherited Metabolic Disease , 40 (3) pp. 357-368. 10.1007/s10545-017-0022-x.

Baruteau, J; Waddington, SN; Alexander, IE; Gissen, P; (2017) Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects. Journal of Inherited Metabolic Disease , 40 (4) pp. 497-517. 10.1007/s10545-017-0053-3.

Baruteau, J; Waddington, SN; Alexander, IE; Gissen, P; (2017) Delivering efficient liver-directed AAV-mediated gene therapy. Gene Therapy , 24 (5) pp. 263-264. 10.1038/gt.2016.90.

Baruteau, JC; (2017) A gene therapy approach for Argininosuccinic aciduria. Doctoral thesis , UCL (University College London).

Batllori, M; Molero-Luis, M; Ormazabal, A; Casado, M; Sierra, C; Garcia-Cazorla, A; Kurian, M; ... Artuch, R; + view all Batllori, M; Molero-Luis, M; Ormazabal, A; Casado, M; Sierra, C; Garcia-Cazorla, A; Kurian, M; Pope, S; Heales, SJ; Artuch, R; - view fewer (2017) Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC. Nature Protocols , 12 (11) pp. 2359-2375. 10.1038/nprot.2017.103.

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Tagalakis, AD; Maeshima, R; Yu-Wai-Man, C; Meng, J; Syed, F; Wu, LP; Aldossary, AM; ... Hart, SL; + view all Tagalakis, AD; Maeshima, R; Yu-Wai-Man, C; Meng, J; Syed, F; Wu, LP; Aldossary, AM; McCarthy, D; Moghimi, SM; Hart, SL; - view fewer (2017) Peptide and nucleic acid-directed self-assembly of cationic nanovehicles through giant unilamellar vesicle modification: targetable nanocomplexes for in vivo nucleic acid delivery. Acta Biomaterialia 10.1016/j.actbio.2017.01.048. (In press).

Thompson, CL; Plant, JC; Wann, AK; Bishop, CL; Novak, P; Mitchison, HM; Beales, PL; ... Knight, MM; + view all Thompson, CL; Plant, JC; Wann, AK; Bishop, CL; Novak, P; Mitchison, HM; Beales, PL; Chapple, JP; Knight, MM; - view fewer (2017) Chondrocyte expansion is associated with loss of primary cilia and disrupted hedgehog signalling. European Cells and Materials , 34 pp. 128-141. 10.22203/eCM.v034a09.

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Tomaz, RA; Harman, JL; Karimlou, D; Weavers, L; Fritsch, L; Bou-Kheir, T; Bell, E; ... Azuara, V; + view all Tomaz, RA; Harman, JL; Karimlou, D; Weavers, L; Fritsch, L; Bou-Kheir, T; Bell, E; Del Valle Torres, I; Niakan, KK; Fisher, C; Joshi, O; Stunnenberg, HG; Curry, E; Ait-Si-Ali, S; Jørgensen, HF; Azuara, V; - view fewer (2017) Jmjd2c facilitates the assembly of essential enhancer-protein complexes at the onset of embryonic stem cell differentiation. Development , 144 (4) pp. 567-579. 10.1242/dev.142489.

Tuschl, K; (2017) Zebrafish disease models to study the pathogenesis of inherited manganese transporter defects and provide a route for drug discovery. Doctoral thesis , UCL (University College London).

Tuschl, K; Gregory, A; Meyer, E; Clayton, PT; Hayflick, SJ; Mills, PB; Kurian, MA; (2017) SLC39A14 Deficiency. GeneReviews

Viner, RM; White, B; Amin, R; Peters, C; Khanolkar, A; Christie, D; Hindmarsh, PC; (2017) Impact of deprivation, ethnicity, and insulin pump therapy on developmental trajectories of diabetes control in COB type 1 diabetes. Pediatric Diabetes , 18 (5) pp. 384-391. 10.1111/pedi.12407.

Vink, CA; Counsell, JR; Perocheau, DP; Karda, R; Buckley, SMK; Brugman, MH; Galla, M; ... Howe, SJ; + view all Vink, CA; Counsell, JR; Perocheau, DP; Karda, R; Buckley, SMK; Brugman, MH; Galla, M; Schambach, A; McKay, TR; Waddington, SN; Howe, SJ; - view fewer (2017) Eliminating HIV-1 Packaging Sequences from Lentiviral Vector Proviruses Enhances Safety and Expedites Gene Transfer for Gene Therapy. Molecular Therapy , 25 (8) pp. 1790-1804. 10.1016/j.ymthe.2017.04.028.

Wassenberg, T; Molero-Luis, M; Jeltsch, K; Hoffmann, GF; Assmann, B; Blau, N; Garcia-Cazorla, A; ... Opladen, T; + view all Wassenberg, T; Molero-Luis, M; Jeltsch, K; Hoffmann, GF; Assmann, B; Blau, N; Garcia-Cazorla, A; Artuch, R; Pons, R; Pearson, TS; Leuzzi, V; Mastrangelo, M; Pearl, PL; Lee, WT; Kurian, MA; Heales, S; Flint, L; Verbeek, M; Willemsen, M; Opladen, T; - view fewer (2017) Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet Journal of Rare Diseases , 12 , Article 12. 10.1186/s13023-016-0522-z.

Williams, DM; Buxton, JL; Kantomaa, MT; Tammelin, TH; Blakemore, AIF; Järvelin, M-R; (2017) Associations of Leukocyte Telomere Length With Aerobic and Muscular Fitness in Young Adults. American Journal of Epidemiology , 185 (7) pp. 529-537. 10.1093/aje/kww123.

Wilson, MP; Footitt, EJ; Papandreou, A; Uudelepp, M-L; Pressler, R; Stevenson, DC; Gabriel, C; ... Mills, PB; + view all Wilson, MP; Footitt, EJ; Papandreou, A; Uudelepp, M-L; Pressler, R; Stevenson, DC; Gabriel, C; McSweeney, M; Baggot, M; Burke, D; Stödberg, T; Riney, K; Schiff, M; Heales, SJR; Mills, KA; Gissen, P; Clayton, PT; Mills, PB; - view fewer (2017) An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy. Analytical Chemistry , 89 (17) pp. 8892-8900. 10.1021/acs.analchem.7b01358.

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Wortmann, SB; Chen, MA; Colombo, R; Pontoglio, A; Alhaddad, B; Botto, LD; Yuzyuk, T; ... and additional individual contributors, .; + view all Wortmann, SB; Chen, MA; Colombo, R; Pontoglio, A; Alhaddad, B; Botto, LD; Yuzyuk, T; Coughlin, CR; Descartes, M; Grűnewald, S; Maranda, B; Mills, PB; Pitt, J; Potente, C; Rodenburg, R; Kluijtmans, LA; Sampath, S; Pai, EF; Wevers, RA; Tiller, GE; and additional individual contributors, .; - view fewer (2017) Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. Journal of Inherited Metabolic Disease , 40 (3) pp. 423-431. 10.1007/s10545-017-0015-9.

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Yu-Wai-Man, C; Owen, N; Lees, J; Tagalakis, AD; Hart, SL; Webster, AR; Orengo, CA; Yu-Wai-Man, C; Owen, N; Lees, J; Tagalakis, AD; Hart, SL; Webster, AR; Orengo, CA; Khaw, PT; - view fewer (2017) Genome-wide RNA-Sequencing analysis identifies a distinct fibrosis gene signature in the conjunctiva after glaucoma surgery. Scientific Reports , 7 , Article 5644. 10.1038/s41598-017-05780-5.

2016

Abarrategi, A; Tornin, J; Martinez-Cruzado, L; Hamilton, A; Martinez-Campos, E; Rodrigo, JP; González, MV; ... Rodriguez, R; + view all Abarrategi, A; Tornin, J; Martinez-Cruzado, L; Hamilton, A; Martinez-Campos, E; Rodrigo, JP; González, MV; Baldini, N; Garcia-Castro, J; Rodriguez, R; - view fewer (2016) Osteosarcoma: Cells-of-Origin, Cancer Stem Cells, and Targeted Therapies. Stem Cells International , 2016 , Article 3631764. 10.1155/2016/3631764.

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Aflatounian, M; Smith, H; Farahani, F; Tofighi Naeem, A; Straatman-Iwanowska, A; Zoghi, S; Khatri, U; ... Rezaei, N; + view all Aflatounian, M; Smith, H; Farahani, F; Tofighi Naeem, A; Straatman-Iwanowska, A; Zoghi, S; Khatri, U; Tajdini, P; Fallahi, GH; Gissen, P; Rezaei, N; - view fewer (2016) Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis. European Journal of Medical Genetics , 59 (4) pp. 237-239. 10.1016/j.ejmg.2016.01.005.

Ansari, M; Rainger, J; Hanson, IM; Williamson, KA; Sharkey, F; Harewood, L; Sandilands, A; ... FitzPatrick, DR; + view all Ansari, M; Rainger, J; Hanson, IM; Williamson, KA; Sharkey, F; Harewood, L; Sandilands, A; Clayton-Smith, J; Dollfus, H; Bitoun, P; Meire, F; Fantes, J; Franco, B; Lorenz, B; Taylor, DS; Stewart, F; Willoughby, CE; McEntagart, M; Khaw, PT; Clericuzio, C; Van Maldergem, L; Williams, D; Newbury-Ecob, R; Traboulsi, EI; Silva, ED; Madlom, MM; Goudie, DR; Fleck, BW; Wieczorek, D; Kohlhase, J; McTrusty, AD; Gardiner, C; Yale, C; Moore, AT; Russell-Eggitt, I; Islam, L; Lees, M; Beales, PL; Tuft, SJ; Solano, JB; Splitt, M; Hertz, JM; Prescott, TE; Shears, DJ; Nischal, KK; Doco-Fenzy, M; Prieur, F; Temple, IK; Lachlan, KL; Damante, G; Morrison, DA; van Heyningen, V; FitzPatrick, DR; - view fewer (2016) Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. PLoS One , 11 (4) , Article e0153757. 10.1371/journal.pone.0153757.

Bacchelli, C; Williams, HJ; (2016) Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases. Expert Review of Molecular Diagnostics , 16 (10) pp. 1073-1082. 10.1080/14737159.2016.1222906.

Banushi, B; Forneris, F; Straatman-Iwanowska, A; Strange, A; Lyne, A-M; Rogerson, C; Burden, JJ; ... Gissen, P; + view all Banushi, B; Forneris, F; Straatman-Iwanowska, A; Strange, A; Lyne, A-M; Rogerson, C; Burden, JJ; Heywood, WE; Hanley, J; Doykov, I; Straatman, KR; Smith, H; Bem, D; Kriston-Vizi, J; Ariceta, G; Risteli, M; Wang, C; Ardill, RE; Zaniew, M; Latka-Grot, J; Waddington, SN; Howe, SJ; Ferraro, F; Gjinovci, A; Lawrence, S; Marsh, M; Girolami, M; Bozec, L; Mills, K; Gissen, P; - view fewer (2016) Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis. Nature Communications , 7 , Article 12111. 10.1038/ncomms12111.

Barrett, AN; Advani, HV; Chitty, LS; Su, LL; Biswas, A; Tan, WC; Hill, M; Barrett, AN; Advani, HV; Chitty, LS; Su, LL; Biswas, A; Tan, WC; Hill, M; Choolani, M; - view fewer (2016) Evaluation of preferences of women and healthcare professionals in Singapore for implementation of noninvasive prenatal testing for Down syndrome. Singapore Medical Journal , 58 (6) pp. 298-310. 10.11622/smedj.2016114.

Bashamboo, A; Donohoue, PA; Vilain, E; Rojo, S; Calvel, P; Seneviratne, SN; Buonocore, F; ... Achermann, JC; + view all Bashamboo, A; Donohoue, PA; Vilain, E; Rojo, S; Calvel, P; Seneviratne, SN; Buonocore, F; Barseghyan, H; Bingham, N; Rosenfeld, JA; Mulukutla, SN; Jain, M; Burrage, L; Dhar, S; Balasubramanyam, A; Lee, B; Members of UDN, .; Dumargne, MC; Eozenou, C; Suntharalingham, JP; de Silva, K; Lin, L; Bignon-Topalovic, J; Poulat, F; Lagos, CF; McElreavey, K; Achermann, JC; - view fewer (2016) A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Human Molecular Genetics , 25 (16) pp. 3446-3453. 10.1093/hmg/ddw186.

Berkovic, SF; Staropoli, JF; Carpenter, S; Oliver, KL; Kmoch, S; Anderson, GW; Damiano, JA; ... ANCL Gene Discovery Consortium, .; + view all Berkovic, SF; Staropoli, JF; Carpenter, S; Oliver, KL; Kmoch, S; Anderson, GW; Damiano, JA; Hildebrand, MS; Sims, KB; Cotman, SL; Bahlo, M; Smith, KR; Cadieux-Dion, M; Cossette, P; Jedlickova, I; Pristoupilova, A; Mole, SE; ANCL Gene Discovery Consortium, .; - view fewer (2016) Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). Neurology , 87 (6) pp. 579-584. 10.1212/WNL.0000000000002943.

Bettencourt, C; Forabosco, P; Wiethoff, S; Heidari, M; Johnstone, DM; Botía, JA; Collingwood, JF; ... Houlden, H; + view all Bettencourt, C; Forabosco, P; Wiethoff, S; Heidari, M; Johnstone, DM; Botía, JA; Collingwood, JF; Hardy, J; UK Brain Expression Consortium (UKBEC); Milward, EA; Ryten, M; Houlden, H; - view fewer (2016) Gene co-expression networks shed light into diseases of brain iron accumulation. Neurobiology of Disease , 87 pp. 59-68. 10.1016/j.nbd.2015.12.004.

Bliss, E; Heywood, WE; Benatti, M; Sebire, NJ; Mills, K; (2016) An optimised method for the proteomic profiling of full thickness human skin. Biological Procedures Online , 18 , Article 15. 10.1186/s12575-016-0045-y.

Boldt, K; Van Reeuwijk, J; Lu, Q; Koutroumpas, K; Nguyen, TM; Texier, Y; Van Beersum, SE; ... UK10K Rare Diseases Group; + view all Boldt, K; Van Reeuwijk, J; Lu, Q; Koutroumpas, K; Nguyen, TM; Texier, Y; Van Beersum, SE; Horn, N; Willer, JR; Mans, DA; Dougherty, G; Lamers, IJ; Coene, KL; Arts, HH; Betts, MJ; Beyer, T; Bolat, E; Gloeckner, CJ; Haidari, K; Hetterschijt, L; Iaconis, D; Jenkins, D; Klose, F; Knapp, B; Latour, B; Letteboer, SJ; Marcelis, CL; Mitic, D; Morleo, M; Oud, MM; Riemersma, M; Rix, S; Terhal, PA; Toedt, G; van Dam, TJ; De Vrieze, E; Wissinger, Y; Wu, KM; Apic, G; Beales, PL; Blacque, OE; Gibson, TJ; Huynen, MA; Katsanis, N; Kremer, H; Omran, H; Van Wijk, E; Wolfrum, U; Kepes, F; Davis, EE; Franco, B; Giles, RH; Ueffing, M; Russell, RB; Roepman, R; UK10K Rare Diseases Group; - view fewer (2016) An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nature Communications , 7 , Article 11491. 10.1038/ncomms11491.

Brown, JR; Roy, S; Ruis, C; Yara Romero, E; Shah, D; Williams, R; Breuer, J; (2016) Norovirus whole genome sequencing by SureSelect target enrichment: a robust and sensitive method. Journal of Clinical Microbiology , 54 (10) pp. 2530-2537. 10.1128/JCM.01052-16.

Brown, RE; (2016) Identification of genetic interactions in a S. pombe yeast model for juvenile CLN3 disease. Doctoral thesis , UCL (University College London).

Buonocore, F; Achermann, JC; (2016) Human sex development: targeted technologies to improve diagnosis. Genome Biology , 17 , Article 257. 10.1186/s13059-016-1128-4.

Butcher, RMR; Sokana, O; Jack, K; Macleod, CK; Marks, M; Kalae, E; Sui, L; ... Roberts, CH; + view all Butcher, RMR; Sokana, O; Jack, K; Macleod, CK; Marks, M; Kalae, E; Sui, L; Russell, C; Tutill, HJ; Williams, RJ; Breuer, J; Willis, R; Le Mesurier, RT; Mabey, DCW; Solomon, AW; Roberts, CH; - view fewer (2016) Correction: Low Prevalence of Conjunctival Infection with Chlamydia trachomatis in a Treatment-Naïve Trachoma-Endemic Region of the Solomon Islands. [Corrigendum]. PLoS Negl Trop Dis , 10 (10) , Article e0005051. 10.1371/journal.pntd.0005051.

Butcher, RMR; Sokana, O; Jack, K; Macleod, CK; Marks, ME; Kalae, E; Sui, L; ... Roberts, CH; + view all Butcher, RMR; Sokana, O; Jack, K; Macleod, CK; Marks, ME; Kalae, E; Sui, L; Russell, C; Tutill, HJ; Williams, RJ; Breuer, J; Willis, R; Le Mesurier, RT; Mabey, DCW; Solomon, AW; Roberts, CH; - view fewer (2016) Low Prevalence of Conjunctival Infection with Chlamydia trachomatis in a Treatment-Naive Trachoma-Endemic Region of the Solomon Islands. PLoS Neglected Tropical Diseases , 10 (9) , Article e0004863. 10.1371/journal.pntd.0004863.

Captur, G; Ho, CY; Schlossarek, S; Kerwin, J; Mirabel, M; Wilson, R; Rosmini, S; ... Moon, JC; + view all Captur, G; Ho, CY; Schlossarek, S; Kerwin, J; Mirabel, M; Wilson, R; Rosmini, S; Obianyo, C; Reant, P; Bassett, P; Cook, AC; Lindsay, S; McKenna, WJ; Mills, K; Elliott, PM; Mohun, TJ; Carrier, L; Moon, JC; - view fewer (2016) The embryological basis of subclinical hypertrophic cardiomyopathy. Scientific Reports , 6 , Article 27714. 10.1038/srep27714.

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Hill, M; Lewis, C; Chitty, LS; (2016) Stakeholder attitudes and needs regarding cell-free fetal DNA testing. Current Opinion in Obstetrics and Gynecology , 28 (2) pp. 125-131. 10.1097/GCO.0000000000000251.

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Jenkins, D; (2016) Hedgehog Signaling in Development and Disease. In: Bradshaw, R and Stahl, P, (eds.) Encyclopedia of Cell Biology. (pp. 76-85). Elsevier: London, UK.

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Kanabus, MM; (2016) Development of a cell based system to investigate which Leigh syndrome patients could benefit from treatment with decanoic acid or ketone bodies. Doctoral thesis , UCL (University College London).

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Wedatilake, Y; Niazi, R; Fassone, E; Powell, CA; Pearce, S; Plagnol, V; Saldanha, JW; ... Rahman, S; + view all Wedatilake, Y; Niazi, R; Fassone, E; Powell, CA; Pearce, S; Plagnol, V; Saldanha, JW; Kleta, R; Chong, WK; Footitt, E; Mills, PB; Taanman, JW; Minczuk, M; Clayton, PT; Rahman, S; - view fewer (2016) TRNT1 deficiency: clinical, biochemical and molecular genetic features. Orphanet Journal of Rare Diseases , 11 (90) pp. 1-14. 10.1186/s13023-016-0477-0.

Williams, HJ; Hurst, JR; Ocaka, L; James, C; Pao, C; Chanudet, E; Lescai, F; ... Beales, P; + view all Williams, HJ; Hurst, JR; Ocaka, L; James, C; Pao, C; Chanudet, E; Lescai, F; Stanescu, HC; Kleta, R; GOSgene; Rosser, E; Bacchelli, C; Beales, P; - view fewer (2016) The use of whole-exome sequencing to disentangle complex phenotypes. European Journal of Human Genetics , 24 (2) pp. 298-301. 10.1038/ejhg.2015.121.

Yu-Wai-Man, C; Tagalakis, AD; Manunta, MD; Hart, SL; Khaw, PT; (2016) Receptor-targeted liposome-peptide-siRNA nanoparticles represent an efficient delivery system for MRTF silencing in conjunctival fibrosis. Scientific Reports , 6 , Article 21881. 10.1038/srep21881.

Zschocke, J; Baumgartner, MR; Morava, E; Patterson, MC; Peters, V; Rahman, S; (2016) Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest. Journal of Inherited Metabolic Disease , 39 (3) pp. 327-329. 10.1007/s10545-016-9931-3.

2015

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Barber, JL; Sebire, NJ; Chitty, LS; Taylor, AM; Arthurs, OJ; (2015) Lung aeration on post-mortem magnetic resonance imaging is a useful marker of live birth versus stillbirth. Int J Legal Med , 129 (3) 531 - 536. 10.1007/s00414-014-1125-7.

Bond, ME; Brown, R; Rallis, C; Bahler, J; Mole, SE; (2015) A central role for TOR signalling in a yeast model for juvenile CLN3 disease. Microbial Cell , 2 (12) pp. 466-480. 10.15698/mic2015.12.241.

Broomfield, A; Sweeney, MG; Woodward, CE; Fratter, C; Morris, AM; Leonard, JV; Abulhoul, L; ... Rahman, S; + view all Broomfield, A; Sweeney, MG; Woodward, CE; Fratter, C; Morris, AM; Leonard, JV; Abulhoul, L; Grunewald, S; Clayton, PT; Hanna, MG; Poulton, J; Rahman, S; - view fewer (2015) Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. Journal of Inherited Metabolic Disease , 38 (3) pp. 445-457. 10.1007/s10545-014-9778-4.

Brown, AC; Bryant, JM; Einer-Jensen, K; Holdstock, J; Houniet, DT; Chan, JZ; Depledge, DP; ... Breuer, J; + view all Brown, AC; Bryant, JM; Einer-Jensen, K; Holdstock, J; Houniet, DT; Chan, JZ; Depledge, DP; Nikolayevskyy, V; Broda, A; Stone, MJ; Christiansen, MT; Williams, R; McAndrew, MB; Tutill, H; Brown, J; Melzer, M; Rosmarin, C; McHugh, TD; Shorten, RJ; Drobniewski, F; Speight, G; Breuer, J; - view fewer (2015) Rapid Whole-Genome Sequencing of Mycobacterium tuberculosis Isolates Directly from Clinical Samples. Journal of Clinical Microbiology , 53 (7) pp. 2230-2237. 10.1128/JCM.00486-15.

Buckley, SM; Delhove, JM; Perocheau, DP; Karda, R; Rahim, AA; Howe, SJ; Ward, NJ; ... McKay, TR; + view all Buckley, SM; Delhove, JM; Perocheau, DP; Karda, R; Rahim, AA; Howe, SJ; Ward, NJ; Birrell, MA; Belvisi, MG; Arbuthnot, P; Johnson, MR; Waddington, SN; McKay, TR; - view fewer (2015) In vivo bioimaging with tissue-specific transcription factor activated luciferase reporters. Scientific Reports , 5 , Article 11842. 10.1038/srep11842.

Charlesworth, G; Angelova, PR; Bartolomé-Robledo, F; Ryten, M; Trabzuni, D; Stamelou, M; Abramov, AY; ... Wood, NW; + view all Charlesworth, G; Angelova, PR; Bartolomé-Robledo, F; Ryten, M; Trabzuni, D; Stamelou, M; Abramov, AY; Bhatia, KP; Wood, NW; - view fewer (2015) Mutations in HPCA cause autosomal-recessive primary isolated dystonia. American Journal of Human Genetics , 96 (4) pp. 657-665. 10.1016/j.ajhg.2015.02.007.

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Cole, TJ; Ahmed, ML; Preece, MA; Hindmarsh, P; Dunger, DB; (2015) The relationship between Insulin-like Growth Factor 1, sex steroids and timing of the pubertal growth spurt. Clinical Endocrinology , 82 (6) pp. 862-869. 10.1111/cen.12682.

Copp, AJ; Adzick, NS; Chitty, LS; Fletcher, JM; Holmbeck, GN; Shaw, GM; (2015) Spina bifida. Nature Reviews Disease Primers , 1 , Article 15007. 10.1038/nrdp.2015.7.

Estapé, A; Josifova, D; Rampling, D; Glover, M; Kinsler, VA; (2015) Congenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome without hemidysplasia. British Journal of Dermatololgy , 173 (1) pp. 304-307. 10.1111/bjd.13636.

Everett, TR; Chitty, LS; (2015) Cell-free fetal DNA: the new tool in fetal medicine. Ultrasound Obstet Gynecol , 45 (5) 499 - 507. 10.1002/uog.14746.

Forsythe, E; Sparks, K; Hoskins, BE; Bagkeris, E; McGowan, BM; Carroll, PV; Huda, MS; ... Beales, PL; + view all Forsythe, E; Sparks, K; Hoskins, BE; Bagkeris, E; McGowan, BM; Carroll, PV; Huda, MS; Mujahid, S; Peters, C; Barrett, T; Mohammed, S; Beales, PL; - view fewer (2015) Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome. Clin Genet , 87 (4) 343 - 349. 10.1111/cge.12373.

Fuggle, NR; Bragoli, W; Mahto, A; Glover, M; Martinez, AE; Kinsler, VA; (2015) The adverse effect profile of oral azathioprine in pediatric atopic dermatitis, and recommendations for monitoring. Journal of the American Academy of Dermatology , 72 (1) pp. 108-114. 10.1016/j.jaad.2014.08.048.

Gissen, P; Arias, IM; (2015) Structural and functional hepatocyte polarity and liver disease. Journal of Hepatology , 63 (4) pp. 1023-1037. 10.1016/j.jhep.2015.06.015.

Heywood, WE; Camuzeaux, S; Doykov, I; Patel, N; Preece, RL; Footitt, E; Cleary, M; ... Mills, K; + view all Heywood, WE; Camuzeaux, S; Doykov, I; Patel, N; Preece, RL; Footitt, E; Cleary, M; Clayton, P; Grunewald, S; Abulhoul, L; Chakrapani, A; Sebire, NJ; Hindmarsh, P; De Koning, TJ; Heales, S; Burke, D; Gissen, P; Mills, K; - view fewer (2015) Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI. Analytical Chemistry , 87 (24) pp. 12238-12244. 10.1021/acs.analchem.5b03232.

Heywood, WE; Galimberti, D; Bliss, E; Sirka, E; Paterson, RW; Magdalinou, NK; Carecchio, M; ... Mills, K; + view all Heywood, WE; Galimberti, D; Bliss, E; Sirka, E; Paterson, RW; Magdalinou, NK; Carecchio, M; Reid, E; Heslegrave, A; Fenoglio, C; Scarpini, E; Schott, JM; Fox, NC; Hardy, J; Bahtia, K; Heales, S; Sebire, NJ; Zetterburg, H; Mills, K; - view fewer (2015) Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay. Molecular Neurodegeneration , 10 , Article 64. 10.1186/s13024-015-0059-y.

Huang, J; Howie, B; McCarthy, S; Memari, Y; Walter, K; Min, JL; Danecek, P; ... Soranzo, N; + view all Huang, J; Howie, B; McCarthy, S; Memari, Y; Walter, K; Min, JL; Danecek, P; Malerba, G; Trabetti, E; Zheng, H-F; Gambaro, G; Richards, JB; Durbin, R; Timpson, NJ; Marchini, J; Soranzo, N; - view fewer (2015) Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. Nature Communications , 6 (811) 10.1038/ncomms9111.

Huntington, SE; (2015) The risk of viral rebound in the year after delivery in women remaining on antiretroviral therapy. AIDS , 29 (17) pp. 2269-2278. 10.1097/QAD.0000000000000826.

Ivins, S; Chappell, J; Vernay, B; Suntharalingham, J; Martineau, A; Mohun, TJ; Scambler, PJ; (2015) The CXCL12/CXCR4 Axis Plays a Critical Role in Coronary Artery Development. Developmental Cell , 33 (4) pp. 455-468. 10.1016/j.devcel.2015.03.026.

Kinsler, VA; Drury, S; Khan, A; Waelchli, R; Rukaite, G; Barnicoat, A; Lench, N; ... O'Shaughnessy, RF; + view all Kinsler, VA; Drury, S; Khan, A; Waelchli, R; Rukaite, G; Barnicoat, A; Lench, N; Harper, JI; O'Shaughnessy, RF; - view fewer (2015) A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma. Br J Dermatol , 172 (1) 262 - 264. 10.1111/bjd.13361.

Kohan, R; Mole, SE; Cotman, SL; (2015) Special issue: Molecular basis of NCL. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease , 1852 (10 Pt B) pp. 2235-2236. 10.1016/j.bbadis.2015.06.023.

Marotta, D; (2015) Defining the role of the Golgi apparatus in juvenile NCL (Batten disease). Doctoral thesis , UCL (University College London).

Mazarello Paes, V; Charalampopoulos, D; Khanolkar, AR; Taylor-Robinson, D; Viner, R; Edge, J; Stephenson, T; Mazarello Paes, V; Charalampopoulos, D; Khanolkar, AR; Taylor-Robinson, D; Viner, R; Edge, J; Stephenson, T; Amin, R; - view fewer (2015) Protocol for systematic review of evidence on the determinants and influence of early glycaemic control in childhood-onset type 1 diabetes. Systematic Reviews , 4 (1) , Article 159. 10.1186/s13643-015-0146-8.

McCabe, MJ; Hu, Y; Gregory, LC; Gaston-Massuet, C; Alatzoglou, KS; Saldanha, JW; Gualtieri, A; ... Dattani, MT; + view all McCabe, MJ; Hu, Y; Gregory, LC; Gaston-Massuet, C; Alatzoglou, KS; Saldanha, JW; Gualtieri, A; Thankamony, A; Hughes, I; Townshend, S; Martinez-Barbera, JP; Bouloux, PM; Dattani, MT; - view fewer (2015) Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD). Molecular and Cellular Endocrinology , 417 pp. 63-72. 10.1016/j.mce.2015.09.010.

Mencacci, NE; Erro, R; Wiethoff, S; Hersheson, J; Ryten, M; Balint, B; Ganos, C; ... Bhatia, KP; + view all Mencacci, NE; Erro, R; Wiethoff, S; Hersheson, J; Ryten, M; Balint, B; Ganos, C; Stamelou, M; Quinn, N; Houlden, H; Wood, NW; Bhatia, KP; - view fewer (2015) ADCY5 mutations are another cause of benign hereditary chorea. Neurology , 85 (1) pp. 80-88. 10.1212/WNL.0000000000001720.

Mencacci, NE; Rubio-Agusti, I; Zdebik, A; Asmus, F; Ludtmann, MH; Ryten, M; Plagnol, V; ... Wood, NW; + view all Mencacci, NE; Rubio-Agusti, I; Zdebik, A; Asmus, F; Ludtmann, MH; Ryten, M; Plagnol, V; Hauser, AK; Bandres-Ciga, S; Bettencourt, C; Forabosco, P; Hughes, D; Soutar, MM; Peall, K; Morris, HR; Trabzuni, D; Tekman, M; Stanescu, HC; Kleta, R; Carecchio, M; Zorzi, G; Nardocci, N; Garavaglia, B; Lohmann, E; Weissbach, A; Klein, C; Hardy, J; Pittman, AM; Foltynie, T; Abramov, AY; Gasser, T; Bhatia, KP; Wood, NW; - view fewer (2015) A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. Am J Hum Genet , 96 (6) pp. 938-947. 10.1016/j.ajhg.2015.04.008.

Moazen, M; Peskett, E; Babbs, C; Pauws, E; Fagan, MJ; (2015) Mechanical properties of calvarial bones in a mouse model for craniosynostosis. PLoS One , 10 (5) , Article e0125757. 10.1371/journal.pone.0125757.

Moore, GE; Ishida, M; Demetriou, C; Al-Olabi, L; Leon, LJ; Thomas, AC; Abu-Amero, S; ... Stanier, P; + view all Moore, GE; Ishida, M; Demetriou, C; Al-Olabi, L; Leon, LJ; Thomas, AC; Abu-Amero, S; Frost, JM; Stafford, JL; Chaoqun, Y; Duncan, AJ; Baigel, R; Brimioulle, M; Iglesias-Platas, I; Apostolidou, S; Aggarwal, R; Whittaker, JC; Syngelaki, A; Nicolaides, KH; Regan, L; Monk, D; Stanier, P; - view fewer (2015) The role and interaction of imprinted genes in human fetal growth. Philos Trans R Soc Lond B Biol Sci , 370 (1663) , Article 20140074 . 10.1098/rstb.2014.0074.

Munye, MM; Ravi, J; Tagalakis, AD; McCarthy, D; Ryadnov, MG; Hart, SL; (2015) Role of liposome and peptide in the synergistic enhancement of transfection with a lipopolyplex vector. Sci Rep , 5 , Article 9292. 10.1038/srep09292.

Nivsarkar, MS; Buckley, SM; Parker, AL; Perocheau, D; McKay, TR; Rahim, AA; Howe, SJ; Nivsarkar, MS; Buckley, SM; Parker, AL; Perocheau, D; McKay, TR; Rahim, AA; Howe, SJ; Waddington, SN; - view fewer (2015) Evidence for Contribution of CD4+CD25+ Regulatory T Cells in Maintaining Immune Tolerance to Human Factor IX following Perinatal Adenovirus Vector Delivery. Journal of Immunology Research , 2015 , Article 397879. 10.1155/2015/397879.

O'Sullivan, M; Rutland, P; Lucas, D; Ashton, E; Hendricks, S; Rahman, S; Bitner-Glindzicz, M; (2015) Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss. Human Molecular Genetics , 24 (4) pp. 1036-1044. 10.1093/hmg/ddu518.

Pai, YJ; Leung, KY; Savery, D; Hutchin, T; Prunty, H; Heales, S; Brosnan, ME; ... Greene, ND; + view all Pai, YJ; Leung, KY; Savery, D; Hutchin, T; Prunty, H; Heales, S; Brosnan, ME; Brosnan, JT; Copp, AJ; Greene, ND; - view fewer (2015) Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice. Nat Commun , 6 , Article 6388. 10.1038/ncomms7388.

Patel, N; Gold, MG; (2015) The genetically encoded tool set for investigating cAMP: more than the sum of its parts. Frontiers in Pharmacology , 6 , Article 164. 10.3389/fphar.2015.00164.

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Perchard, R; MacDonald, D; Say, J; Pitts, J; Pye, S; Allgrove, J; Banerjee, K; Perchard, R; MacDonald, D; Say, J; Pitts, J; Pye, S; Allgrove, J; Banerjee, K; Amin, R; - view fewer (2015) Islet autoantibody status in a multi-ethnic UK clinic cohort of children presenting with diabetes. Arch Dis Child , 100 (4) pp. 348-352. 10.1136/archdischild-2014-306542.

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Raman, S; Klein, N; Kwan, A; Hubank, M; Rahman, S; Rashid, A; Peters, MJ; (2015) Oxidative phosphorylation gene expression falls at onset and throughout the development of meningococcal sepsis-induced multi-organ failure in children. Intensive Care Med , 41 (8) pp. 1489-1490. 10.1007/s00134-015-3817-y.

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Waelchi, R; Williams, J; Cole, T; Dattani, M; Hindmarsh, P; Kennedy, H; Martinez, A; ... Kinsler, V; + view all Waelchi, R; Williams, J; Cole, T; Dattani, M; Hindmarsh, P; Kennedy, H; Martinez, A; Khan, S; Semple, R; White, A; Sebire, N; Healy, E; Moore, G; Kinsler, V; - view fewer (2015) Growth and hormonal profiling in children with congenital melanocytic naevi. British Journal of Dermatology , 173 pp. 1471-1478. 10.1111/bjd.14091.

Waelchli, R; Aylett, SE; Atherton, D; Thompson, DJ; Chong, WK; Kinsler, VA; (2015) Classification of neurological abnormalities in children with congenital melanocytic naevus syndrome identifies magnetic resonance imaging as the best predictor of clinical outcome. British Journal of Dermatology , 173 (3) pp. 739-750. 10.1111/bjd.13898.

Walter, K; Min, JL; Huang, J; Crooks, L; Memari, Y; McCarthy, S; Perry, JRB; ... Zhang, W; + view all Walter, K; Min, JL; Huang, J; Crooks, L; Memari, Y; McCarthy, S; Perry, JRB; Xu, C; Futema, M; Lawson, D; Iotchkova, V; Schiffels, S; Hendricks, AE; Danecek, P; Li, R; Floyd, J; Wain, LV; Barroso, I; Humphries, SE; Hurles, ME; Zeggini, E; Barrett, JC; Plagnol, V; Richards, JB; Greenwood, CMT; Timpson, NJ; Durbin, R; Soranzo, N; Bala, S; Clapham, P; Coates, G; Cox, T; Daly, A; Danecek, P; Du, Y; Durbin, R; Edkins, S; Ellis, P; Flicek, P; Guo, X; Guo, X; Huang, L; Jackson, DK; Joyce, C; Keane, T; Kolb-Kokocinski, A; Langford, C; Li, Y; Liang, J; Lin, H; Liu, R; Maslen, J; McCarthy, S; Muddyman, D; Quail, MA; Stalker, J; Sun, J; Tian, J; Wang, G; Wang, J; Wang, Y; Wong, K; Zhang, P; Barroso, I; Birney, E; Boustred, C; Chen, L; Clement, G; Cocca, M; Danecek, P; Smith, GD; Day, INM; Day-Williams, A; Down, T; Dunham, I; Durbin, R; Evans, DM; Gaunt, TR; Geihs, M; Greenwood, CMT; Hart, D; Hendricks, AE; Howie, B; Huang, J; Hubbard, T; Hysi, P; Iotchkova, V; Jamshidi, Y; Karczewski, KJ; Kemp, JP; Lachance, G; Lawson, D; Lek, M; Lopes, M; MacArthur, DG; Marchini, J; Mangino, M; Mathieson, I; McCarthy, S; Memari, Y; Metrustry, S; Min, JL; Moayyeri, A; Muddyman, D; Northstone, K; Panoutsopoulou, K; Paternoster, L; Perry, JRB; Quaye, L; Richards, JB; Ring, S; Ritchie, GRS; Schiffels, S; Shihab, HA; Shin, S-Y; Small, KS; Artigas, MS; Soranzo, N; Southam, L; Spector, TD; St Pourcain, B; Surdulescu, G; Tachmazidou, I; Timpson, NJ; Tobin, MD; Valdes, AM; Visscher, PM; Wain, LV; Walter, K; Ward, K; Wilson, SG; Wong, K; Yang, J; Zeggini, E; Zhang, F; Zheng, H-F; Anney, R; Ayub, M; Barrett, JC; Blackwood, D; Bolton, PF; Breen, G; Collier, DA; Craddock, N; Crooks, L; Curran, S; Curtis, D; Durbin, R; Gallagher, L; Geschwind, D; Gurling, H; Holmans, P; Lee, I; Lonnqvist, J; McCarthy, S; McGuffin, P; McIntosh, AM; McKechanie, AG; McQuillin, A; Morris, J; Muddyman, D; O'Donovan, MC; Owen, MJ; Palotie, A; Parr, JR; Paunio, T; Pietilainen, O; Rehnstrom, K; Sharp, SI; Skuse, D; St Clair, D; Suvisaari, J; Walters, JTR; Williams, HJ; Barroso, I; Bochukova, E; Bounds, R; Dominiczak, A; Durbin, R; Farooqi, IS; Hendricks, AE; Keogh, J; Marenne, GL; McCarthy, S; Morris, A; Muddyman, D; O'Rahilly, S; Porteous, DJ; Smith, BH; Tachmazidou, I; Wheeler, E; Zeggini, E; Al Turki, S; Anderson, CA; Antony, D; Barroso, I; Beales, P; Bentham, J; Bhattacharya, S; Calissano, M; Carss, K; Chatterjee, K; Cirak, S; Cosgrove, C; Durbin, R; Fitzpatrick, DR; Floyd, J; Foley, AR; Franklin, CS; Futema, M; Grozeva, D; Humphries, SE; Hurles, ME; McCarthy, S; Mitchison, HM; Muddyman, D; Muntoni, F; O'Rahilly, S; Onoufriadis, A; Parker, V; Payne, F; Plagnol, V; Raymond, FL; Roberts, N; Savage, DB; Scambler, P; Schmidts, M; Schoenmakers, N; Semple, RK; Serra, E; Spasic-Boskovic, O; Stevens, E; van Kogelenberg, M; Vijayarangakannan, P; Walter, K; Williamson, KA; Wilson, C; Whyte, T; Ciampi, A; Greenwood, CMT; Hendricks, AE; Li, R; Metrustry, S; Oualkacha, K; Tachmazidou, I; Xu, C; Zeggini, E; Bobrow, M; Bolton, PF; Durbin, R; Fitzpatrick, DR; Griffin, H; Hurles, ME; Kaye, J; Kennedy, K; Kent, A; Muddyman, D; Muntoni, F; Raymond, FL; Semple, RK; Smee, C; Spector, TD; Timpson, NJ; Charlton, R; Ekong, R; Futema, M; Humphries, SE; Khawaja, F; Lopes, LR; Migone, N; Payne, SJ; Plagnol, V; Pollitt, RC; Povey, S; Ridout, CK; Robinson, RL; Scott, RH; Shaw, A; Syrris, P; Taylor, R; Vandersteen, AM; Barrett, JC; Barroso, I; Smith, GD; Durbin, R; Farooqi, IS; Fitzpatrick, DR; Hurles, ME; Kaye, J; Kennedy, K; Langford, C; McCarthy, S; Muddyman, D; Owen, MJ; Palotie, A; Richards, JB; Soranzo, N; Spector, TD; Stalker, J; Timpson, NJ; Zeggini, E; Amuzu, A; Casas, JP; Chambers, JC; Cocca, M; Dedoussis, G; Gambaro, G; Gasparini, P; Gaunt, TR; Huang, J; Iotchkova, V; Isaacs, A; Johnson, J; Kleber, ME; Kooner, JS; Langenberg, C; Luan, J; Malerba, G; Maerz, W; Matchan, A; Min, JL; Morris, R; Nordestgaard, BG; Benn, M; Ring, S; Scott, RA; Soranzo, N; Southam, L; Timpson, NJ; Toniolo, D; Traglia, M; Tybjaerg-Hansen, A; van Duijn, CM; van Leeuwen, EM; Varbo, A; Whincup, P; Zaza, G; Zeggini, E; Zhang, W; - view fewer (2015) The UK10K project identifies rare variants in health and disease. Nature , 526 (7571) pp. 82-90. 10.1038/nature14962.

Waters, AM; Asfahani, R; Carroll, P; Bicknell, L; Lescai, F; Bright, A; Chanudet, E; ... Beales, PL; + view all Waters, AM; Asfahani, R; Carroll, P; Bicknell, L; Lescai, F; Bright, A; Chanudet, E; Brooks, A; Christou-Savina, S; Osman, G; Walsh, P; Bacchelli, C; Chagpier, A; Vernay, B; Bader, DM; Deshpande, C; O'Sullivan, M; Ocaka, L; Stanescu, H; Stewart, HS; Hildebrandt, F; Otto, E; Johnson, CA; Szymanska, K; Katsanis, N; Davis, E; Kleta, R; Hubank, M; Doxsey, S; Jackson, A; Stupka, E; Winey, M; Beales, PL; - view fewer (2015) The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. Journal of Medical Genetics , 52 (3) pp. 147-156. 10.1136/jmedgenet-2014-102691.

Wavre-Shapton, ST; Calvi, AA; Turmaine, M; Seabra, MC; Cutler, DF; Futter, CE; Mitchison, HM; (2015) Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3Δex1-6 mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease). Human Molecular Genetics , 24 (24) pp. 7060-7074. 10.1093/hmg/ddv406.

Wedatilake, Y; Plagnol, V; Anderson, G; Paine, SM; Clayton, PT; Jacques, TS; Rahman, S; (2015) Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy. Neuropathol Appl Neurobiol , 41 (3) 399 - 402. 10.1111/nan.12190.

2014

Arthurs, OJ; Thayyil, S; Olsen, OE; Addison, S; Wade, A; Jones, R; Norman, W; ... Owens, CM; + view all Arthurs, OJ; Thayyil, S; Olsen, OE; Addison, S; Wade, A; Jones, R; Norman, W; Scott, RJ; Robertson, NJ; Taylor, AM; Chitty, LS; Sebire, NJ; Owens, CM; - view fewer (2014) Diagnostic accuracy of post-mortem MRI for thoracic abnormalities in fetuses and children. European Radiology , 24 (11) pp. 2876-2884. 10.1007/s00330-014-3313-8.

Bitner-Glindzicz, M; Rahman, S; Chant, K; Marlow, N; (2014) Gentamicin, genetic variation and deafness in preterm children. BMC Pediatr , 14 (1) , Article 66. 10.1186/1471-2431-14-66.

Chitty, LS; Finning, K; Wade, A; Soothill, P; Martin, B; Oxenford, K; Daniels, G; Chitty, LS; Finning, K; Wade, A; Soothill, P; Martin, B; Oxenford, K; Daniels, G; Massey, E; - view fewer (2014) Diagnostic accuracy of routine antenatal determination of fetal RHD status across gestation: population based cohort study. BMJ , 349 , Article g5243. 10.1136/bmj.g5243.

Christiansen, MT; Brown, AC; Kundu, S; Tutill, HJ; Williams, R; Brown, JR; Holdstock, J; ... Breuer, J; + view all Christiansen, MT; Brown, AC; Kundu, S; Tutill, HJ; Williams, R; Brown, JR; Holdstock, J; Holland, MJ; Stevenson, S; Dave, J; Tong, CY; Einer-Jensen, K; Depledge, DP; Breuer, J; - view fewer (2014) Whole-genome enrichment and sequencing of Chlamydia trachomatis directly from clinical samples. BMC Infect Dis , 14 (1) , Article 591. 10.1186/s12879-014-0591-3.

David, AL; Holloway, A; Thomasson, L; Syngelaki, A; Nicolaides, K; Patel, RR; Sommerlad, B; ... Chitty, LS; + view all David, AL; Holloway, A; Thomasson, L; Syngelaki, A; Nicolaides, K; Patel, RR; Sommerlad, B; Wilson, A; Martin, W; Chitty, LS; - view fewer (2014) A case-control study of maternal periconceptual and pregnancy recreational drug use and fetal malformation using hair analysis. PLoS One , 9 (10) , Article e111038 . 10.1371/journal.pone.0111038.

Demetriou, C; Abu-Amero, S; Thomas, AC; Ishida, M; Aggarwal, R; Al-Olabi, L; Leon, LJ; ... Moore, GE; + view all Demetriou, C; Abu-Amero, S; Thomas, AC; Ishida, M; Aggarwal, R; Al-Olabi, L; Leon, LJ; Stafford, JL; Syngelaki, A; Peebles, D; Nicolaides, KH; Regan, L; Stanier, P; Moore, GE; - view fewer (2014) Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight. PLoS One , 9 (1) , Article e85454. 10.1371/journal.pone.0085454.

Du, Z; Munye, MM; Tagalakis, AD; Manunta, MD; Hart, SL; (2014) The role of the helper lipid on the DNA transfection efficiency of lipopolyplex formulations. Sci Rep , 4 7107 - ?. 10.1038/srep07107.

Dunn, L; Allen, GF; Mamais, A; Ling, H; Li, A; Duberley, KE; Hargreaves, IP; ... Bandopadhyay, R; + view all Dunn, L; Allen, GF; Mamais, A; Ling, H; Li, A; Duberley, KE; Hargreaves, IP; Pope, S; Holton, JL; Lees, A; Heales, SJ; Bandopadhyay, R; - view fewer (2014) Dysregulation of glucose metabolism is an early event in sporadic Parkinson's disease. Neurobiol Aging , 35 (5) pp. 1111-1115. 10.1016/j.neurobiolaging.2013.11.001.

Hanley, JE; (2014) The use of matrix attachment regions to enhance the in-vivo potency of rAAV vectors. Doctoral thesis , UCL (University College London).

Hart, SL; (2014) Cystic fibrosis findings. International Innovation (131) pp. 78-80.

Hill, M; Suri, R; Nash, E; Morris, S; Chitty, L; (2014) Preferences for Prenatal Tests for Cystic Fibrosis: A Discrete Choice Experiment to Compare the Views of Adult Patients, Carriers of Cystic Fibrosis and Health Professionals. Journal of Clinical Medicine , 3 (1) 176 - 190. 10.3390/jcm3010176.

Hill, M; Wright, D; Daley, R; Lewis, C; McKay, F; Mason, S; Lench, N; ... Chitty, LS; + view all Hill, M; Wright, D; Daley, R; Lewis, C; McKay, F; Mason, S; Lench, N; Howarth, A; Boustred, C; Lo, K; Plagnol, V; Spencer, K; Fisher, J; Kroese, M; Morris, S; Chitty, LS; - view fewer (2014) Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol. BMC Pregnancy Childbirth , 14 (1) , Article 229. 10.1186/1471-2393-14-229.

Hjeij, R; Onoufriadis, A; Watson, CM; Slagle, CE; Klena, NT; Dougherty, GW; Kurkowiak, M; ... Mitchison, HM; + view all Hjeij, R; Onoufriadis, A; Watson, CM; Slagle, CE; Klena, NT; Dougherty, GW; Kurkowiak, M; Loges, NT; Diggle, CP; Morante, NF; Gabriel, GC; Lemke, KL; Li, Y; Pennekamp, P; Menchen, T; Konert, F; Marthin, JK; Mans, DA; Letteboer, SJ; Werner, C; Burgoyne, T; Westermann, C; Rutman, A; Carr, IM; O'Callaghan, C; Moya, E; Chung, EM; UK10K Consortium, .; Sheridan, E; Nielsen, KG; Roepman, R; Bartscherer, K; Burdine, RD; Lo, CW; Omran, H; Mitchison, HM; - view fewer (2014) CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. Am J Hum Genet , 95 (3) 257 - 274. 10.1016/j.ajhg.2014.08.005.

Issler, N; (2014) Clinical, genetic and molecular studies into hereditary renal tubular proteinuria. Doctoral thesis , UCL (University College London).

Kalliolia, E; Silajdžić, E; Nambron, R; Hill, NR; Doshi, A; Frost, C; Watt, H; ... Warner, TT; + view all Kalliolia, E; Silajdžić, E; Nambron, R; Hill, NR; Doshi, A; Frost, C; Watt, H; Hindmarsh, P; Björkqvist, M; Warner, TT; - view fewer (2014) Plasma melatonin is reduced in Huntington's disease. Movement Disorders 10.1002/mds.26003.

Kanabus, M; Heales, SJ; Rahman, S; (2014) Development of Pharmacological Strategies for Mitochondrial Disorders. Br J Pharmacol , 171 (8) pp. 1798-1817. 10.1111/bph.12456.

Karda, R; Buckley, SM; Mattar, CN; Ng, J; Massaro, G; Hughes, MP; Kurian, MA; ... Rahim, AA; + view all Karda, R; Buckley, SM; Mattar, CN; Ng, J; Massaro, G; Hughes, MP; Kurian, MA; Baruteau, J; Gissen, P; Chan, JK; Bacchelli, C; Waddington, SN; Rahim, AA; - view fewer (2014) Perinatal systemic gene delivery using adeno-associated viral vectors. Front Mol Neurosci , 7 , Article 89. 10.3389/fnmol.2014.00089.

Kelberman, D; Islam, L; Lakowski, J; Bacchelli, C; Chanudet, E; Lescai, F; Patel, A; ... Sowden, JC; + view all Kelberman, D; Islam, L; Lakowski, J; Bacchelli, C; Chanudet, E; Lescai, F; Patel, A; Stupka, E; Buck, A; Wolf, S; Beales, PL; Jacques, TS; Bitner-Glindzicz, M; Liasis, A; Lehmann, OJ; Kohlhase, J; Nischal, KK; Sowden, JC; - view fewer (2014) Mutation of SALL2 causes recessive ocular coloboma in humans and mice. Hum Mol Genet , 23 (10) pp. 2511-2526. 10.1093/hmg/ddt643.

Kinsler, VA; Krengel, S; Riviere, JB; Waelchli, R; Chapusot, C; Al-Olabi, L; Faivre, L; ... Vabres, P; + view all Kinsler, VA; Krengel, S; Riviere, JB; Waelchli, R; Chapusot, C; Al-Olabi, L; Faivre, L; Haenssle, HA; Weibel, L; Jeudy, G; Vabres, P; - view fewer (2014) Next Generation Sequencing of Nevus Spilus-Type Congenital Melanocytic Nevus: Exquisite Genotype-Phenotype Correlation in Mosaic RASopathies. [Letter]. J Invest Dermatol , 134 pp. 2658-2660. 10.1038/jid.2014.195.

Knowles, RL; Khalid, JM; Oerton, JM; Hindmarsh, PC; Kelnar, CJ; Dezateux, C; (2014) Late clinical presentation of congenital adrenal hyperplasia in older children: findings from national paediatric surveillance. Archives of Disease in Childhood , 99 (1) pp. 30-34. 10.1136/archdischild-2012-303070.

Kristiansen, M; Ham, J; (2014) Programmed cell death during neuronal development: the sympathetic neuron model. Cell Death Differ , 21 (7) pp. 1025-1035. 10.1038/cdd.2014.47.

Lo, KK; Boustred, C; Chitty, LS; Plagnol, V; (2014) RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy. Bioinformatics , 30 (20) pp. 2965-2967. 10.1093/bioinformatics/btu419.

Lucas, JS; Burgess, A; Mitchison, HM; Moya, E; Williamson, M; Hogg, C; National PCD Service, UK, .; (2014) Diagnosis and management of primary ciliary dyskinesia. Arch Dis Child , 99 (9) 850 - 856. 10.1136/archdischild-2013-304831.

Meyer, R; De Koker, C; Dziubak, R; Godwin, H; Dominguez-Ortega, G; Shah, N; (2014) Dietary elimination of children with food protein induced gastrointestinal allergy – micronutrient adequacy with and without a hypoallergenic formula? Clinical and Translational Allergy , 4 (1) , Article 31. 10.1186/2045-7022-4-31.

Mills, PB; Camuzeaux, SS; Footitt, EJ; Mills, KA; Gissen, P; Fisher, L; Das, KB; ... Clayton, PT; + view all Mills, PB; Camuzeaux, SS; Footitt, EJ; Mills, KA; Gissen, P; Fisher, L; Das, KB; Varadkar, SM; Zuberi, S; McWilliam, R; Stödberg, T; Plecko, B; Baumgartner, MR; Maier, O; Calvert, S; Riney, K; Wolf, NI; Livingston, JH; Bala, P; Morel, CF; Feillet, F; Raimondi, F; Del Giudice, E; Chong, WK; Pitt, M; Clayton, PT; - view fewer (2014) Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Brain , 137 (5) pp. 1350-1360. 10.1093/brain/awu051.

Morris, S; Karlsen, S; Chung, N; Hill, M; Chitty, LS; (2014) Model-Based Analysis of Costs and Outcomes of Non-Invasive Prenatal Testing for Down's Syndrome Using Cell Free Fetal DNA in the UK National Health Service. PLoS One , 9 (4) , Article e93559. 10.1371/journal.pone.0093559.

Nessa, A; (2014) Understanding the molecular basis of Congenital Hyperinsulinism due to autosomal dominant ABCC8 and KCNJ11 mutations. Doctoral thesis , UCL (University College London).

Ng, J; Heales, SJ; Kurian, MA; (2014) Clinical Features and Pharmacotherapy of Childhood Monoamine Neurotransmitter Disorders. Pediatric Drugs , 16 (4) pp. 275-291. 10.1007/s40272-014-0079-z.

Onoufriadis, A; Shoemark, A; Schmidts, M; Patel, M; Jimenez, G; Liu, H; Thomas, B; ... Mitchison, HM; + view all Onoufriadis, A; Shoemark, A; Schmidts, M; Patel, M; Jimenez, G; Liu, H; Thomas, B; Dixon, M; Hirst, RA; Rutman, A; Burgoyne, T; Williams, C; Scully, J; Bolard, F; Lafitte, JJ; Beales, PL; Hogg, C; Yang, P; Chung, EM; Emes, RD; O'Callaghan, C; UK10K; Bouvagnet, P; Mitchison, HM; - view fewer (2014) Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central-pair agenesis due to radial spoke defects. Hum Mol Genet , 23 (13) pp. 3362-3374. 10.1093/hmg/ddu046.

Ripoll, VM; Lambrianides, A; Pierangeli, SS; Poulton, K; Ioannou, Y; Heywood, WE; Mills, K; ... Giles, IP; + view all Ripoll, VM; Lambrianides, A; Pierangeli, SS; Poulton, K; Ioannou, Y; Heywood, WE; Mills, K; Latchman, DS; Isenberg, DA; Rahman, A; Giles, IP; - view fewer (2014) Changes in regulation of human monocyte proteins in response to IgG from patients with antiphospholipid syndrome. Blood , 124 (25) pp. 3808-3816. 10.1182/blood-2014-05-577569.

Rozkalne, A; Adkin, C; Meng, J; Lapan, A; Morgan, JE; Gussoni, E; (2014) Mouse Regenerating Myofibers Detected as False-Positive Donor Myofibers with Anti-Human Spectrin. Human Gene Therapy , 25 (1) 73 - 81. 10.1089/hum.2013.126.

Simpkin, A; Cochran, E; Cameron, F; Dattani, M; de Bock, M; Dunger, DB; Forsander, G; ... Bockenhauer, D; + view all Simpkin, A; Cochran, E; Cameron, F; Dattani, M; de Bock, M; Dunger, DB; Forsander, G; Guran, T; Harris, J; Isaac, I; Hussain, K; Kleta, R; Peters, C; Tasic, V; Williams, R; Yap Kok Peng, F; O'Rahilly, S; Gorden, P; Semple, RK; Bockenhauer, D; - view fewer (2014) Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations. Nephron Physiology , 128 (3-4) 10.1159/000366225.

Subbarayan, A; Dattani, MT; Peters, CJ; Hindmarsh, PC; (2014) Cardiovascular risk factors in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clinical Endocrinology , 80 (4) 471 - 477. 10.1111/cen.12265.

Sundaram, V; (2014) Gene therapy for inherited retinal diseases. Doctoral thesis , UCL (University College London).

Tagalakis, AD; Kenny, GD; Bienemann, AS; McCarthy, D; Munye, MM; Taylor, H; Wyatt, ML; ... Hart, SL; + view all Tagalakis, AD; Kenny, GD; Bienemann, AS; McCarthy, D; Munye, MM; Taylor, H; Wyatt, ML; Lythgoe, MF; White, EA; Hart, SL; - view fewer (2014) PEGylation improves the receptor-mediated transfection efficiency of peptide-targeted, self-assembling, anionic nanocomplexes. J Control Release , 174 pp. 177-187. 10.1016/j.jconrel.2013.11.014.

Tagalakis, AD; Lee, DH; Bienemann, AS; Zhou, H; Munye, MM; Saraiva, L; McCarthy, D; ... Hart, SL; + view all Tagalakis, AD; Lee, DH; Bienemann, AS; Zhou, H; Munye, MM; Saraiva, L; McCarthy, D; Du, Z; Vink, CA; Maeshima, R; White, EA; Gustafsson, K; Hart, SL; - view fewer (2014) Multifunctional, self-assembling anionic peptide-lipid nanocomplexes for targeted siRNA delivery. Biomaterials , 35 (29) pp. 8406-8415. 10.1016/j.biomaterials.2014.06.003.

Theofilopoulos, S; Griffiths, WJ; Crick, PJ; Yang, S; Meljon, A; Ogundare, M; Kitambi, SS; ... Wang, Y; + view all Theofilopoulos, S; Griffiths, WJ; Crick, PJ; Yang, S; Meljon, A; Ogundare, M; Kitambi, SS; Lockhart, A; Tuschl, K; Clayton, PT; Morris, AA; Martinez, A; Reddy, MA; Martinuzzi, A; Bassi, MT; Honda, A; Mizuochi, T; Kimura, A; Nittono, H; De Michele, G; Carbone, R; Criscuolo, C; Yau, JL; Seckl, JR; Schuele, R; Schoels, L; Sailer, AW; Kuhle, J; Fraidakis, MJ; Gustafsson, J-A; Steffensen, KR; Bjorkhem, I; Ernfors, P; Sjovall, J; Arenas, E; Wang, Y; - view fewer (2014) Cholestenoic acids regulate motor neuron survival via liver X receptors. Journal of Clinical Investigation , 124 (11) pp. 4829-4842. 10.1172/JCI68506.

Thomas, AC; Williams, H; Seto-Salvia, N; Bacchelli, C; Jenkins, D; O'Sullivan, M; Mengrelis, K; ... Stanier, PM; + view all Thomas, AC; Williams, H; Seto-Salvia, N; Bacchelli, C; Jenkins, D; O'Sullivan, M; Mengrelis, K; Ishida, M; Ocaka, L; Chanudet, E; James, C; Lescai, F; Anderson, G; Morrogh, D; Ryten, M; Duncan, AJ; Pai, YJ; Saraiva, JM; Ramos, F; Farren, B; Saunders, D; Vernay, B; Gissen, P; Straatmaan-Iwanowska, A; Baas, F; Wood, NW; Hersheson, J; Houlden, H; Hurst, J; Scott, R; Bitner-Glindzicz, M; Moore, GE; Sousa, SB; Stanier, PM; - view fewer (2014) Mutations in SNX14 cause a distinctive autosomal recessive cerebellar ataxia and intellectual disability syndrome. The American Journal of Human Genetics , 95 (5) pp. 611-621. 10.1016/j.ajhg.2014.10.007.

Waelchli, R; Aylett, SE; Robinson, K; Chong, WK; Martinez, AE; Kinsler, VA; (2014) New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk. British Journal of Dermatology , 171 (4) 861 - 867. 10.1111/bjd.13203.

2013

Brouwer, MS; Roberts, AP; Hussain, H; Williams, RJ; Allan, E; Mullany, P; (2013) Horizontal gene transfer converts non-toxigenic Clostridium difficile strains into toxin producers. Nat Commun , 4 , Article 2601. 10.1038/ncomms3601.

Callaway, JL; Shaffer, LG; Chitty, L; Rosenfeld, JA; Crolla, JA; (2013) The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature. Prenat Diagn , 33 (12) pp. 1119-1123. 10.1002/pd.4209.

Cheung, L; (2013) Genetic Manipulation of the Wnt and Notch Signalling Pathways in the Pituitary Gland in Vivo. Doctoral thesis , UCL (University College London).

Chitty, LS; Khalil, A; Barrett, AN; Pajkrt, E; Griffin, DR; Cole, TJ; (2013) Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. Prenat Diagn , 33 (5) 416 - 423. 10.1002/pd.4066.

Ferdinandusse, S; Waterham, HR; Heales, SJ; Brown, GK; Hargreaves, IP; Taanman, JW; Gunny, R; ... Rahman, S; + view all Ferdinandusse, S; Waterham, HR; Heales, SJ; Brown, GK; Hargreaves, IP; Taanman, JW; Gunny, R; Abulhoul, L; Wanders, RJ; Clayton, PT; Leonard, JV; Rahman, S; - view fewer (2013) HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. Orphanet J Rare Dis , 8 (1) , Article 188. 10.1186/1750-1172-8-188.

Foley, AR; Menezes, MP; Pandraud, A; Gonzalez, MA; Al-Odaib, A; Abrams, AJ; Sugano, K; ... Houlden, H; + view all Foley, AR; Menezes, MP; Pandraud, A; Gonzalez, MA; Al-Odaib, A; Abrams, AJ; Sugano, K; Yonezawa, A; Manzur, AY; Burns, J; Hughes, I; McCullagh, BG; Jungbluth, H; Lim, MJ; Lin, JP; Megarbane, A; Urtizberea, JA; Shah, AH; Antony, J; Webster, R; Broomfield, A; Ng, J; Mathew, AA; O'Byrne, JJ; Forman, E; Scoto, M; Prasad, M; O'Brien, K; Olpin, S; Oppenheim, M; Hargreaves, I; Land, JM; Wang, MX; Carpenter, K; Horvath, R; Straub, V; Lek, M; Gold, W; Farrell, MO; Brandner, S; Phadke, R; Matsubara, K; McGarvey, ML; Scherer, SS; Baxter, PS; King, MD; Clayton, P; Rahman, S; Reilly, MM; Ouvrier, RA; Christodoulou, J; Züchner, S; Muntoni, F; Houlden, H; - view fewer (2013) Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain , 137 (1) , Article awt315. 10.1093/brain/awt315.

Forabosco, P; Ramasamy, A; Trabzuni, D; Walker, R; Smith, C; Bras, J; Levine, AP; ... Ryten, M; + view all Forabosco, P; Ramasamy, A; Trabzuni, D; Walker, R; Smith, C; Bras, J; Levine, AP; Hardy, J; Pocock, JM; Guerreiro, R; Weale, ME; Ryten, M; - view fewer (2013) Insights into TREM2 biology by network analysis of human brain gene expression data. Neurobiol Aging , 34 (12) pp. 2699-2714. 10.1016/j.neurobiolaging.2013.05.001.

Gnanapavan, S; Ho, P; Heywood, W; Jackson, S; Grant, D; Rantell, K; Keir, G; ... Giovannoni, G; + view all Gnanapavan, S; Ho, P; Heywood, W; Jackson, S; Grant, D; Rantell, K; Keir, G; Mills, K; Steinman, L; Giovannoni, G; - view fewer (2013) Progression in multiple sclerosis is associated with low endogenous NCAM. J Neurochem , 125 (5) 766 - 773. 10.1111/jnc.12236.

Griffiths, WJ; Crick, PJ; Wang, Y; Ogundare, M; Tuschl, K; Morris, AA; Bigger, BW; ... Wang, Y; + view all Griffiths, WJ; Crick, PJ; Wang, Y; Ogundare, M; Tuschl, K; Morris, AA; Bigger, BW; Clayton, PT; Wang, Y; - view fewer (2013) Analytical strategies for characterization of oxysterol lipidomes: Liver X receptor ligands in plasma. Free Radical Biology and Medicine , 59 69 - 84. 10.1016/j.freeradbiomed.2012.07.027.

Halbritter, J; Bizet, AA; Schmidts, M; Porath, JD; Braun, DA; Gee, HY; McInerney-Leo, AM; ... Hildebrandt, F; + view all Halbritter, J; Bizet, AA; Schmidts, M; Porath, JD; Braun, DA; Gee, HY; McInerney-Leo, AM; Krug, P; Filhol, E; Davis, EE; Airik, R; Czarnecki, PG; Lehman, AM; Trnka, P; Nitschké, P; Bole-Feysot, C; Schueler, M; Knebelmann, B; Burtey, S; Szabó, AJ; Tory, K; Leo, PJ; Gardiner, B; McKenzie, FA; Zankl, A; Brown, MA; Hartley, JL; Maher, ER; Li, C; Leroux, MR; Scambler, PJ; Zhan, SH; Jones, SJ; Kayserili, H; Tuysuz, B; Moorani, KN; Constantinescu, A; Krantz, ID; Kaplan, BS; Shah, JV; UK10K Consortium; Hurd, TW; Doherty, D; Katsanis, N; Duncan, EL; Otto, EA; Beales, PL; Mitchison, HM; Saunier, S; Hildebrandt, F; - view fewer (2013) Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans. Am J Hum Genet , 93 (5) pp. 915-925. 10.1016/j.ajhg.2013.09.012.

Hernandez-Hernandez, V; Pravincumar, P; Diaz-Font, A; May-Simera, H; Jenkins, D; Knight, M; Beales, PL; (2013) Bardet-Biedl syndrome proteins control cilia length through regulation of actin polymerisation. Human Molecular Genetics , 22 (19) pp. 3858-3868. 10.1093/hmg/ddt241.

Karampetsou, E; Morrogh, D; Ballard, T; Waters, JJ; Lench, N; Chitty, LS; (2013) Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization. Prenatal Diagnosis , 34 (1) pp. 98-101. 10.1002/pd.4255.

Kasperaviciute, D; Catarino, CB; Matarin, M; Leu, C; Novy, J; Tostevin, A; Leal, B; ... Sisodiya, SM; + view all Kasperaviciute, D; Catarino, CB; Matarin, M; Leu, C; Novy, J; Tostevin, A; Leal, B; Hessel, EV; Hallmann, K; Hildebrand, MS; Dahl, HH; Ryten, M; Trabzuni, D; Ramasamy, A; Alhusaini, S; Doherty, CP; Dorn, T; Hansen, J; Krämer, G; Steinhoff, BJ; Zumsteg, D; Duncan, S; Kälviäinen, RK; Eriksson, KJ; Kantanen, AM; Pandolfo, M; Gruber-Sedlmayr, U; Schlachter, K; Reinthaler, EM; Stogmann, E; Zimprich, F; Théâtre, E; Smith, C; O'Brien, TJ; Meng Tan, K; Petrovski, S; Robbiano, A; Paravidino, R; Zara, F; Striano, P; Sperling, MR; Buono, RJ; Hakonarson, H; Chaves, J; Costa, PP; Silva, BM; da Silva, AM; de Graan, PN; Koeleman, BP; Becker, A; Schoch, S; von Lehe, M; Reif, PS; Rosenow, F; Becker, F; Weber, Y; Lerche, H; Rössler, K; Buchfelder, M; Hamer, HM; Kobow, K; Coras, R; Blumcke, I; Scheffer, IE; Berkovic, SF; Weale, ME; UK Brain Expression Consortium, The; Delanty, N; Depondt, C; Cavalleri, GL; Kunz, WS; Sisodiya, SM; - view fewer (2013) Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain: A Journal of Neurology , 136 (10) pp. 3140-3150. 10.1093/brain/awt233.

Kenny, GD; Bienemann, AS; Tagalakis, AD; Pugh, JA; Welser, K; Campbell, F; Tabor, AB; ... Hart, SL; + view all Kenny, GD; Bienemann, AS; Tagalakis, AD; Pugh, JA; Welser, K; Campbell, F; Tabor, AB; Hailes, HC; Gill, SS; Lythgoe, MF; McLeod, CW; White, EA; Hart, SL; - view fewer (2013) Multifunctional receptor-targeted nanocomplexes for the delivery of therapeutic nucleic acids to the brain. Biomaterials , 34 (36) pp. 9190-9200. 10.1016/j.biomaterials.2013.07.081.

Kinsler, VA; Thomas, AC; Ishida, M; Bulstrode, NW; Loughlin, S; Hing, S; Chalker, J; ... Moore, GE; + view all Kinsler, VA; Thomas, AC; Ishida, M; Bulstrode, NW; Loughlin, S; Hing, S; Chalker, J; McKenzie, K; Abu-Amero, S; Slater, O; Chanudet, E; Palmer, R; Morrogh, D; Stanier, P; Healy, E; Sebire, NJ; Moore, GE; - view fewer (2013) Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. Journal of Investigative Dermatology , 133 (9) pp. 2229-2236. 10.1038/jid.2013.70.

Klebe, S; Golmard, JL; Nalls, MA; Saad, M; Singleton, AB; Bras, JM; Hardy, J; ... Wood, NW; + view all Klebe, S; Golmard, JL; Nalls, MA; Saad, M; Singleton, AB; Bras, JM; Hardy, J; Simon-Sanchez, J; Heutink, P; Kuhlenbäumer, G; Charfi, R; Klein, C; Hagenah, J; Gasser, T; Wurster, I; Lesage, S; Lorenz, D; Deuschl, G; Durif, F; Pollak, P; Damier, P; Tison, F; Durr, A; Amouyel, P; Lambert, JC; Tzourio, C; Maubaret, C; Charbonnier-Beaupel, F; Tahiri, K; Vidailhet, M; Martinez, M; Brice, A; Corvol, JC; Agid, Y; Anheim, M; Bonnet, A-M; Borg, M; Broussolle, E; Corvol, J-C; Damier, P; Destée, A; Lohmann, E; Penet, C; Krack, P; Rascol, O; Tranchant, C; Vérin, M; Viallet, F; Plagnol, V; Hernandez, DG; Sharma, M; Sheerin, U-M; Schulte, C; Sveinbjörnsdóttir, S; Arepalli, S; Band, G; Vukcevic, D; Barker, RA; Bellinguez, C; Ben-Shlomo, Y; Berendse, HW; Berg, D; Bhatia, K; De Bie, RMA; Biffi, A; Bloem, B; Bochdanovits, Z; Bonin, M; Brockmann, K; Brooks, J; Burn, DJ; Charlesworth, G; Chen, H; Chinnery, PF; Chong, S; Clarke, CE; Cookson, MR; Cooper, JM; Counsell, C; Dartigues, JF; Deloukas, P; Dexter, DT; Van Dijk, KD; Dillman, A; Edkins, S; Evans, JR; Foltynie, T; Freeman, C; Gao, J; Gardner, M; Gibbs, R; Goate, A; Gray, E; Guerreiro, R; Gústafsson, O; Harris, C; Hellenthal, G; Van Hilten, JJ; Hofman, A; Hollenbeck, A; Holton, J; Hu, M; Huang, X; Huber, H; Hudson, G; Hunt, SE; Huttenlocher, J; Illig, T; Jónsson, PV; Langford, C; Lees, A; Lichtner, P; Limousin, P; Lopez, G; McNeill, A; Moorby, C; Moore, M; Morris, H; Morrison, KE; Mudanohwo, E; O'Sullivan, SS; Pearson, J; Pearson, R; Perlmutter, JS; Pétursson, H; Pirinen, M; Post, B; Ravina, B; Revesz, T; Riess, O; Rivadeneira, F; Rizzu, P; Ryten, M; Sawcer, S; Schapira, A; Scheffer, H; Shaw, K; Shoulson, I; Sidransky, E; De Silva, R; Smith, C; Spencer, CCA; Stefánsson, H; Steinberg, S; Stockton, JD; Strange, A; Su, Z; Talbot, K; Tanner, CM; Tashakkori-Ghanbaria, A; Trabzuni, D; Traynor, BJ; Uitterlinden, AG; Vandrovcova, J; Velseboer, D; Marie, V; Walker, R; Van De Warrenburg, B; Weale, ME; Wickremaratchi, M; Williams, N; Williams-Gray, CH; Winder-Rhodes, S; Stefánsson, K; Wood, NW; - view fewer (2013) The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. Journal of Neurology, Neurosurgery and Psychiatry , 84 (6) 666 - 673. 10.1136/jnnp-2012-304475.

McInerney-Leo, AM; Schmidts, M; Cortés, CR; Leo, PJ; Gener, B; Courtney, AD; Gardiner, B; ... Wicking, C; + view all McInerney-Leo, AM; Schmidts, M; Cortés, CR; Leo, PJ; Gener, B; Courtney, AD; Gardiner, B; Harris, JA; Lu, Y; Marshall, M; Scambler, PJ; Beales, PL; Brown, MA; Zankl, A; Mitchison, HM; Duncan, EL; Wicking, C; - view fewer (2013) Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60. Am J Hum Genet , 93 (3) pp. 515-523. 10.1016/j.ajhg.2013.06.022.

Meng, QH; Irvine, S; Tagalakis, AD; McAnulty, RJ; McEwan, JR; Hart, SL; (2013) Inhibition of neointimal hyperplasia in a rabbit vein graft model following non-viral transfection with human iNOS cDNA. Gene Therapy , 20 (10) 979 -986. 10.1038/gt.2013.20.

Mitrpant, C; Porensky, P; Zhou, H; Price, L; Muntoni, F; Fletcher, S; Wilton, SD; Mitrpant, C; Porensky, P; Zhou, H; Price, L; Muntoni, F; Fletcher, S; Wilton, SD; Burghes, AH; - view fewer (2013) Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy. PLoS One , 8 (4) , Article e62114. 10.1371/journal.pone.0062114.

Onoufriadis, A; Shoemark, A; Munye, MM; James, CT; Schmidts, M; Patel, M; Rosser, EM; ... Mitchison, HM; + view all Onoufriadis, A; Shoemark, A; Munye, MM; James, CT; Schmidts, M; Patel, M; Rosser, EM; Bacchelli, C; Beales, PL; Scambler, PJ; Hart, SL; Danke-Roelse, JE; Sloper, JJ; Hull, S; Hogg, C; Emes, RD; Pals, G; Moore, AT; Chung, EM; Mitchison, HM; - view fewer (2013) Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. Journal of Medical Genetics 10.1136/jmedgenet-2013-101938.

Oxenford, K; Hill, M; Chitty, L; Silcock, C; (2013) Routine testing of fetal Rhesus D status in Rhesus D negative women using cell-free fetal DNA: An investigation into the preferences and information needs of women. Prenatal Diagnosis , 33 (7) 688 - 694. 10.1002/pd.4135.

Pearce, LR; Atanassova, N; Banton, MC; Bottomley, B; van der Klaauw, AA; Revelli, JP; Hendricks, A; ... Farooqi, IS; + view all Pearce, LR; Atanassova, N; Banton, MC; Bottomley, B; van der Klaauw, AA; Revelli, JP; Hendricks, A; Keogh, JM; Henning, E; Doree, D; Jeter-Jones, S; Garg, S; Bochukova, EG; Bounds, R; Ashford, S; Gayton, E; Hindmarsh, PC; Shield, JP; Crowne, E; Barford, D; Wareham, NJ; UK10K consortium; O'Rahilly, S; Murphy, MP; Powell, DR; Barroso, I; Farooqi, IS; - view fewer (2013) KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation. Cell , 155 (4) pp. 765-777. 10.1016/j.cell.2013.09.058.

Rahman, S; Footitt, EJ; Varadkar, S; Clayton, PT; (2013) Inborn errors of metabolism causing epilepsy. Dev Med Child Neurol , 55 (1) 23 - 36. 10.1111/j.1469-8749.2012.04406.x.

Rahman, SA; (2013) Investigating the role of gut hormones in energy and glucose homeostasis. Doctoral thesis (PhD), UCL (University College London).

Ramasamy, A; Trabzuni, D; Gibbs, JR; Dillman, A; Hernandez, DG; Arepalli, S; Walker, R; ... Weale, ME; + view all Ramasamy, A; Trabzuni, D; Gibbs, JR; Dillman, A; Hernandez, DG; Arepalli, S; Walker, R; Smith, C; Ilori, GP; Shabalin, AA; Li, Y; Singleton, AB; Cookson, MR; NABEC; Hardy, J; UKBEC; Ryten, M; Weale, ME; - view fewer (2013) Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies. Nucleic Acids Research , 41 (7) , Article e88. 10.1093/nar/gkt069.

Rymen, D; Peanne, R; Millón, MB; Race, V; Sturiale, L; Garozzo, D; Mills, P; ... Matthijs, G; + view all Rymen, D; Peanne, R; Millón, MB; Race, V; Sturiale, L; Garozzo, D; Mills, P; Clayton, P; Asteggiano, CG; Quelhas, D; Cansu, A; Martins, E; Nassogne, MC; Gonçalves-Rocha, M; Topaloglu, H; Jaeken, J; Foulquier, F; Matthijs, G; - view fewer (2013) MAN1B1 Deficiency: An Unexpected CDG-II. PLoS Genetics , 9 (12) , Article e1003989. 10.1371/journal.pgen.1003989.

Schmidts, M; Vodopiutz, J; Christou-Savina, S; Cortés, CR; McInerney-Leo, AM; Emes, RD; Arts, HH; ... Mitchison, HM; + view all Schmidts, M; Vodopiutz, J; Christou-Savina, S; Cortés, CR; McInerney-Leo, AM; Emes, RD; Arts, HH; Tüysüz, B; D'Silva, J; Leo, PJ; Giles, TC; Oud, MM; Harris, JA; Koopmans, M; Marshall, M; Elçioglu, N; Kuechler, A; Bockenhauer, D; Moore, AT; Wilson, LC; Janecke, AR; Hurles, ME; Emmet, W; Gardiner, B; Streubel, B; Dopita, B; Zankl, A; Kayserili, H; Scambler, PJ; Brown, MA; Beales, PL; Wicking, C; UK10K; Duncan, EL; Mitchison, HM; - view fewer (2013) Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy. The American Journal of Human Genetics , 93 (5) 932 - 944. 10.1016/j.ajhg.2013.10.003.

Shahni, R; Wedatilake, Y; Cleary, MA; Lindley, KJ; Sibson, KR; Rahman, S; (2013) A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations. American Journal of Medical Genetics Part A , 161 (9) pp. 2334-2338. 10.1002/ajmg.a.36065.

Trabzuni, D; Ramasamy, A; Imran, S; Walker, R; Smith, C; Weale, ME; Hardy, J; ... North American Brain Expression Consortium; + view all Trabzuni, D; Ramasamy, A; Imran, S; Walker, R; Smith, C; Weale, ME; Hardy, J; Ryten, M; North American Brain Expression Consortium; - view fewer (2013) Widespread sex differences in gene expression and splicing in the adult human brain. Nat Commun , 4 , Article 2771. 10.1038/ncomms3771.

Trabzuni, D; Ryten, M; Emmett, W; Ramasamy, A; Lackner, KJ; Zeller, T; Walker, R; ... Plagnol, V; + view all Trabzuni, D; Ryten, M; Emmett, W; Ramasamy, A; Lackner, KJ; Zeller, T; Walker, R; Smith, C; Lewis, PA; Mamais, A; de Silva, R; Vandrovcova, J; International Parkinson Disease Genomics Consortium (IPDGC), The; Hernandez, D; Nalls, MA; Sharma, M; Garnier, S; Lesage, S; Simon-Sanchez, J; Gasser, T; Heutink, P; Brice, A; Singleton, A; Cai, H; Schadt, E; Wood, NW; Bandopadhyay, R; Weale, ME; Hardy, J; Plagnol, V; - view fewer (2013) Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 Locus. PLOS ONE , 8 (8) , Article e70724. 10.1371/journal.pone.0070724.

Tucci, A; Liu, YT; Preza, E; Pitceathly, RD; Chalasani, A; Plagnol, V; Land, JM; ... Houlden, H; + view all Tucci, A; Liu, YT; Preza, E; Pitceathly, RD; Chalasani, A; Plagnol, V; Land, JM; Trabzuni, D; Ryten, M; Jaunmuktane, Z; Reilly, MM; Brandner, S; Hargreaves, I; Hardy, J; Singleton, AB; Abramov, AY; Houlden, H; - view fewer (2013) Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2013-306387.

Webb, EA; O'Reilly, MA; Clayden, JD; Seunarine, KK; Dale, N; Salt, A; Clark, CA; Webb, EA; O'Reilly, MA; Clayden, JD; Seunarine, KK; Dale, N; Salt, A; Clark, CA; Dattani, MT; - view fewer (2013) Reduced ventral cingulum integrity and increased behavioral problems in children with isolated optic nerve hypoplasia and mild to moderate or no visual impairment. PLoS One , 8 (3) , Article e59048. 10.1371/journal.pone.0059048.

Wedatilake, Y; Brown, R; McFarland, R; Yaplito-Lee, J; Morris, AA; Champion, M; Jardine, PE; ... Rahman, S; + view all Wedatilake, Y; Brown, R; McFarland, R; Yaplito-Lee, J; Morris, AA; Champion, M; Jardine, PE; Clarke, A; Thorburn, DR; Taylor, RW; Land, JM; Forrest, K; Dobbie, A; Simmons, L; Aasheim, ET; Ketteridge, D; Hanrahan, D; Chakrapani, A; Brown, GK; Rahman, S; - view fewer (2013) SURF1 deficiency: a multi-centre natural history study. Orphanet Journal of Rare Diseases , 8 (1) , Article 96. 10.1186/1750-1172-8-96.

Williams, CE; Nakhal, RS; Achermann, JC; Creighton, SM; (2013) Persistent unexplained congenital clitoromegaly in females born extremely prematurely. Journal of Pediatric Urology , 9 (6/A) pp. 962-965. 10.1016/j.jpurol.2013.03.001.

Wu, JY; McGown, IN; Lin, L; Achermann, JC; Harris, M; Cowley, DM; Aftimos, S; ... Cotterill, AM; + view all Wu, JY; McGown, IN; Lin, L; Achermann, JC; Harris, M; Cowley, DM; Aftimos, S; Neville, KA; Choong, CS; Cotterill, AM; - view fewer (2013) A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development. Clinical Endocrinology , 78 (4) 545 - 550. 10.1111/cen.12012.

Zhou, H; Rokach, O; Feng, L; Munteanu, I; Mamchaoui, K; Wilmshurst, JM; Sewry, C; ... Muntoni, F; + view all Zhou, H; Rokach, O; Feng, L; Munteanu, I; Mamchaoui, K; Wilmshurst, JM; Sewry, C; Manzur, AY; Pillay, K; Mouly, V; Duchen, M; Jungbluth, H; Treves, S; Muntoni, F; - view fewer (2013) RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling. Human Mutation , 34 (7) pp. 986-996. 10.1002/humu.22326.

2012

Alston, CL; Davison, JE; Meloni, F; van der Westhuizen, FH; He, L; Hornig-Do, H-T; Peet, AC; ... Taylor, RW; + view all Alston, CL; Davison, JE; Meloni, F; van der Westhuizen, FH; He, L; Hornig-Do, H-T; Peet, AC; Gissen, P; Goffrini, P; Ferrero, I; Wassmer, E; McFarland, R; Taylor, RW; - view fewer (2012) Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. Journal of Medical Genetics , 49 (9) 569 -577. 10.1136/jmedgenet-2012-101146.

Bras, J; Verloes, A; Schneider, SA; Mole, SE; Guerreiro, RJ; (2012) Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Human Molecular Genetics , 21 (12) 2646 - 2650. 10.1093/hmg/dds089.

Charlesworth, G; Plagnol, V; Holmström, KM; Bras, J; Sheerin, UM; Preza, E; Rubio-Agusti, I; ... Wood, NW; + view all Charlesworth, G; Plagnol, V; Holmström, KM; Bras, J; Sheerin, UM; Preza, E; Rubio-Agusti, I; Ryten, M; Schneider, SA; Stamelou, M; Trabzuni, D; Abramov, AY; Bhatia, KP; Wood, NW; - view fewer (2012) Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. The American Journal of Human Genetics , 91 (6) 1041 - 1050. 10.1016/j.ajhg.2012.10.024.

Derks, EM; Vorstman, JA; Ripke, S; Kahn, RS; Schizophrenia Psychiatric Genomic, C; Ophoff, RA; (2012) Investigation of the genetic association between quantitative measures of psychosis and schizophrenia: a polygenic risk score analysis. PLoS One , 7 , Article e37852. 10.1371/journal.pone.0037852.

Devine, MJ; Kaganovich, A; Ryten, M; Mamais, A; Trabzuni, D; Manzoni, C; McGoldrick, P; ... Lewis, PA; + view all Devine, MJ; Kaganovich, A; Ryten, M; Mamais, A; Trabzuni, D; Manzoni, C; McGoldrick, P; Chan, D; Dillman, A; Zerle, J; Horan, S; Taanman, JW; Hardy, J; Marti-Masso, JF; Healy, D; Schapira, AH; Wolozin, B; Bandopadhyay, R; Cookson, MR; van der Brug, MP; Lewis, PA; - view fewer (2012) Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue. PLOS ONE , 7 (1) , Article e22489. 10.1371/annotation/c12e4f9e-5aae-424b-a69f-fddf16976dc5.

El-Khairi, R; Parnaik, R; Duncan, AJ; Lin, L; Gerrelli, D; Dattani, MT; Conway, GS; El-Khairi, R; Parnaik, R; Duncan, AJ; Lin, L; Gerrelli, D; Dattani, MT; Conway, GS; Achermann, JC; - view fewer (2012) Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency. Molecular and Cellular Endocrinology , 351 (2) pp. 264-268. 10.1016/j.mce.2011.12.016.

Hernandez, DG; Nalls, MA; Moore, M; Chong, S; Dillman, A; Trabzuni, D; Gibbs, JR; ... Cookson, MR; + view all Hernandez, DG; Nalls, MA; Moore, M; Chong, S; Dillman, A; Trabzuni, D; Gibbs, JR; Ryten, M; Arepalli, S; Weale, ME; Zonderman, AB; Troncoso, J; O'Brien, R; Walker, R; Smith, C; Bandinelli, S; Traynor, BJ; Hardy, J; Singleton, AB; Cookson, MR; - view fewer (2012) Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. Neurobiology of Disease , 47 (1) 20 - 28. 10.1016/j.nbd.2012.03.020.

Ishida, M; Monk, D; Duncan, AJ; Abu-Amero, S; Chong, J; Ring, SM; Pembrey, ME; ... Moore, GE; + view all Ishida, M; Monk, D; Duncan, AJ; Abu-Amero, S; Chong, J; Ring, SM; Pembrey, ME; Hindmarsh, PC; Whittaker, JC; Stanier, P; Moore, GE; - view fewer (2012) Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight. The American Journal of Human Genetics , 90 (4) 715 - 719. 10.1016/j.ajhg.2012.02.021.

Keller, MC; Simonson, MA; Ripke, S; Neale, BM; Gejman, PV; Howrigan, DP; Lee, SH; ... The Schizophrenia Psychiatric Genome-Wide Association Study Cons; + view all Keller, MC; Simonson, MA; Ripke, S; Neale, BM; Gejman, PV; Howrigan, DP; Lee, SH; Lencz, T; Levinson, DF; Sullivan, PF; The Schizophrenia Psychiatric Genome-Wide Association Study Cons; - view fewer (2012) Runs of homozygosity implicate autozygosity as a schizophrenia risk factor. PLoS Genetics , 8 (4) , Article e1002656. 10.1371/journal.pgen.1002656.

Kenny, GD; Villegas-Llerena, C; Tagalakis, AD; Campbell, F; Welser, K; Botta, M; Tabor, AB; ... Hart, SL; + view all Kenny, GD; Villegas-Llerena, C; Tagalakis, AD; Campbell, F; Welser, K; Botta, M; Tabor, AB; Hailes, HC; Lythgoe, MF; Hart, SL; - view fewer (2012) Multifunctional receptor-targeted nanocomplexes for magnetic resonance imaging and transfection of tumours. Biomaterials , 33 (29) 7241 - 7250. 10.1016/j.biomaterials.2012.06.042.

Kinsler, VA; (2012) Studies of congenital melanocytic naevi. Doctoral thesis , UCL (University College London).

Lescai, F; Bonfiglio, S; Bacchelli, C; Chanudet, E; Waters, A; Sisodiya, SM; Kasperavičiūtė, D; ... Stupka, E; + view all Lescai, F; Bonfiglio, S; Bacchelli, C; Chanudet, E; Waters, A; Sisodiya, SM; Kasperavičiūtė, D; Williams, J; Harold, D; Hardy, J; Kleta, R; Cirak, S; Williams, R; Achermann, JC; Anderson, J; Kelsell, D; Vulliamy, T; Houlden, H; Wood, N; Sheerin, U; Tonini, GP; Mackay, D; Hussain, K; Sowden, J; Kinsler, V; Osinska, J; Brooks, T; Hubank, M; Beales, P; Stupka, E; - view fewer (2012) Characterisation and validation of insertions and deletions in 173 patient exomes. PLoS One , 7 (12) , Article e51292. 10.1371/journal.pone.0051292.

Nahorski, MS; Seabra, L; Reiman, A; Lu, X; Maher, ER; Straatman-Iwanowska, A; Gissen, P; ... Teh, BT; + view all Nahorski, MS; Seabra, L; Reiman, A; Lu, X; Maher, ER; Straatman-Iwanowska, A; Gissen, P; Wingenfeld, A; Hatzfeld, M; Klomp, JA; Teh, BT; - view fewer (2012) Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered rhoa signalling, epithelial polarization and cytokinesis. Human Molecular Genetics , 21 (24) 5268 - 5279. 10.1093/hmg/dds378.

Padidela, R; Bryan, SM; Abu-Amero, S; Hudson-Davies, RE; Achermann, JC; Moore, GE; Hindmarsh, PC; (2012) The growth hormone receptor gene deleted for exon three (GHRd3) polymorphism is associated with birth and placental weight. Clinical Endocrinology , 76 (2) 236 - 240. 10.1111/j.1365-2265.2011.04207.x.

Pitceathly, RD; Rahman, S; Hanna, MG; (2012) Single deletions in mitochondrial DNA--molecular mechanisms and disease phenotypes in clinical practice. Neuromuscular Disorders , 22 (7) 577 - 586. 10.1016/j.nmd.2012.03.009.

Rahman, S; (2012) Mitochondrial disease and epilepsy. Dev Med Child Neurol , 54 (5) 397 - 406. 10.1111/j.1469-8749.2011.04214.x.

Rix, SM; (2012) The role of IFT80 in the molecular pathogenesis of Short Rib Polydactyly syndromes. Doctoral thesis , UCL (University of London).

Selman, L; Henriksen, ML; Brandt, J; Palarasah, Y; Waters, A; Beales, PL; Holmskov, U; ... Hansen, S; + view all Selman, L; Henriksen, ML; Brandt, J; Palarasah, Y; Waters, A; Beales, PL; Holmskov, U; Jorgensen, TJD; Nielsen, C; Skjodt, K; Hansen, S; - view fewer (2012) An enzyme-linked immunosorbent assay (ELISA) for quantification of human collectin 11 (CL-11, CL-K1). Journal of Immunological Methods , 375 (1-2) 182 - 188. 10.1016/j.jim.2011.10.010.

Smith, H; Banushi, B; Bruce, CK; Cangul, H; Gogolina, E; Straatman-Iwanowska, A; Gissen, P; ... Watson, SP; + view all Smith, H; Banushi, B; Bruce, CK; Cangul, H; Gogolina, E; Straatman-Iwanowska, A; Gissen, P; Galmes, R; Klumperman, J; Reay, K; Cullinane, AR; Romero, R; Chang, R; Ackermann, O; Baumann, C; Cakmak Celik, F; Aygun, C; Coward, R; Inward, C; Dionisi-Vici, C; Sibbles, B; Ae Kim, C; Knisely, AS; Watson, SP; - view fewer (2012) Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. Human Mutation , 33 (12) 1656 - 1664. 10.1002/humu.22155.

Smith, KR; Damiano, J; Franceschetti, S; Carpenter, S; Canafoglia, L; Morbin, M; Rossi, G; ... Berkovic, SF; + view all Smith, KR; Damiano, J; Franceschetti, S; Carpenter, S; Canafoglia, L; Morbin, M; Rossi, G; Pareyson, D; Mole, SE; Staropoli, JF; Sims, KB; Lewis, J; Lin, WL; Dickson, DW; Dahl, HH; Bahlo, M; Berkovic, SF; - view fewer (2012) Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. The American Journal of Human Genetics , 90 (6) 1102 - 1107. 10.1016/j.ajhg.2012.04.021.

Tantawy, S; Lin, L; Akkurt, I; Borck, G; Klingmueller, D; Hauffa, BP; Krude, H; ... Koehler, B; + view all Tantawy, S; Lin, L; Akkurt, I; Borck, G; Klingmueller, D; Hauffa, BP; Krude, H; Biebermann, H; Achermann, JC; Koehler, B; - view fewer (2012) Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations. European Journal of Endocrinology , 167 (1) pp. 125-130. 10.1530/EJE-11-0944.

Trabzuni, D; Wray, S; Vandrovcova, J; Ramasamy, A; Walker, R; Smith, C; Luk, C; ... Ryten, M; + view all Trabzuni, D; Wray, S; Vandrovcova, J; Ramasamy, A; Walker, R; Smith, C; Luk, C; Gibbs, JR; Dillman, A; Hernandez, DG; Arepalli, S; Singleton, AB; Cookson, MR; Pittman, AM; de Silva, R; Weale, ME; Hardy, J; Ryten, M; - view fewer (2012) MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies. Human Molecular Genetics , 21 (18) 4094 -4103. 10.1093/hmg/dds238.

Twigg, SR; Lloyd, D; Jenkins, D; Elçioglu, NE; Cooper, CD; Al-Sannaa, N; Annagür, A; + view all Twigg, SR; Lloyd, D; Jenkins, D; Elçioglu, NE; Cooper, CD; Al-Sannaa, N; Annagür, A; Gillessen-Kaesbach, G; Hüning, I; Knight, SJ; Goodship, JA; Keavney, BD; Beales, PL; Gileadi, O; McGowan, SJ; Wilkie, AO; - view fewer (2012) Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

White, HE; Dent, CL; Hall, VJ; Crolla, JA; Chitty, LS; (2012) Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis. PLOS One , 7 (9) , Article e45073. 10.1371/journal.pone.0045073.

Writer, MJ; Kyrtatos, PG; Bienemann, AS; Pugh, JA; Lowe, AS; Villegas-Llerena, C; Kenny, GD; ... Hart, SL; + view all Writer, MJ; Kyrtatos, PG; Bienemann, AS; Pugh, JA; Lowe, AS; Villegas-Llerena, C; Kenny, GD; White, EA; Gill, SS; McLeod, CW; Lythgoe, MF; Hart, SL; - view fewer (2012) Lipid peptide nanocomplexes for gene delivery and magnetic resonance imaging in the brain. Journal of Controlled Release , 162 (2) 340 - 348. 10.1016/j.jconrel.2012.07.002.

2011

Achermann, JC; (2011) SF-1 and DAX-1 in human disease. Doctoral thesis , University of Cambridge (Special Regulations).

Achermann, JC; Eugster, EA; Shulman, DI; (2011) Ambiguous genitalia. The Journal of Clinical Endocrinology & Metabolism , 96 (3) 33A - 34A.

Ahmed, SF; Achermann, JC; Arl, W; Balen, AH; Conway, G; Edwards, ZL; Elford, S; ... Willis, D; + view all Ahmed, SF; Achermann, JC; Arl, W; Balen, AH; Conway, G; Edwards, ZL; Elford, S; Hughes, IA; Izatt, L; Krone, N; Miles, HL; O'Toole, S; Perry, L; Sanders, C; Simmonds, M; Wallace, AM; Watt, A; Willis, D; - view fewer (2011) UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development. Clinical Endocrinology , 75 (1) 12 - 26. 10.1111/j.1365-2265.2011.04076.x.

Barrett, AN; Zimmermann, BG; Wang, D; Holloway, A; Chitty, LS; (2011) Implementing Prenatal Diagnosis Based on Cell-Free Fetal DNA: Accurate Identification of Factors Affecting Fetal DNA Yield. PLOS ONE , 6 (10) , Article e25202. 10.1371/journal.pone.0025202.

Bridges, M; Heron, EA; O'Dushlaine, C; Segurado, R; International Schizophrenia, C; Morris, D; Corvin, A; ... Pinto, C; + view all Bridges, M; Heron, EA; O'Dushlaine, C; Segurado, R; International Schizophrenia, C; Morris, D; Corvin, A; Gill, M; Pinto, C; - view fewer (2011) Genetic classification of populations using supervised learning. PLoS One , 6 (5) , Article e14802. 10.1371/journal.pone.0014802.

Davison, JE; Davies, NP; Wilson, M; Sun, Y; Chakrapani, A; McKiernan, PJ; Walter, JH; ... Peet, AC; + view all Davison, JE; Davies, NP; Wilson, M; Sun, Y; Chakrapani, A; McKiernan, PJ; Walter, JH; Gissen, P; Peet, AC; - view fewer (2011) MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation. Orphanet Journal of Rare Diseases , 6 , Article 19. 10.1186/1750-1172-6-19.

Devine, MJ; Kaganovich, A; Ryten, M; Mamais, A; Trabzuni, D; Manzoni, C; McGoldrick, P; ... Lewis, PA; + view all Devine, MJ; Kaganovich, A; Ryten, M; Mamais, A; Trabzuni, D; Manzoni, C; McGoldrick, P; Chan, D; Dillman, A; Zerle, J; Horan, S; Taanman, JW; Hardy, J; Marti-Masso, JF; Healy, D; Schapira, AH; Wolozin, B; Bandopadhyay, R; Cookson, MR; van der Brug, MP; Lewis, PA; - view fewer (2011) Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue. PLOS ONE , 6 (7) , Article e22489. 10.1371/journal.pone.0022489.

El-Khairi, R; Martinez-Aguayo, A; Ferraz-de-Souza, B; Lin, L; Achermann, JC; (2011) Role of DAX-1 (NROB1) and Steroidogenic Factor-1 (NR5A1) in Human Adrenal Function. In: Ghizzoni, L and Cappa, M and Chrousos, G and Loche, S and Maghnie, M, (eds.) Pediatric Adrenal Diseases. (38 - 46). Karger: Basel, Switzerland.

Ferraz-de-Souza, B; Hudson-Davies, RE; Lin, L; Parnaik, R; Hubank, M; Dattani, MT; Achermann, JC; (2011) Sterol O-Acyltransferase 1 (SOAT1, ACAT) Is a Novel Target of Steroidogenic Factor-1 (SF-1, NR5A1, Ad4BP) in the Human Adrenal. The Journal of Clinical Endocrinology & Metabolism , 96 (4) E663 - E668. 10.1210/jc.2010-2021.

Ferraz-de-Souza, B; Lin, L; Achermann, JC; (2011) Steroidogenic factor-1 (SF-1, NR5A1) and human disease. [Review]. Molecular and Cellular Endocrinology , 336 (1-2) 198 - 205. 10.1016/j.mce.2010.11.006.

Ferraz-de-Souza, B; Lin, L; Shah, S; Jina, N; Hubank, M; Dattani, MT; Achermann, JC; (2011) ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland. The FASEB Journal , 25 (4) 1166 - 1175. 10.1096/fj.10-170522.

Hughes, R; Gilley, J; Kristiansen, M; Ham, J; (2011) The MEK-ERK pathway negatively regulates bim expression through the 3' UTR in sympathetic neurons. BMC Neuroscience , 12 , Article 69. 10.1186/1471-2202-12-69.

Kristiansen, M; Menghi, F; Hughes, R; Hubank, M; Ham, J; (2011) Global analysis of gene expression in NGF-deprived sympathetic neurons identifies molecular pathways associated with cell death. BMC Genomics , 12 , Article 551. 10.1186/1471-2164-12-551.

Manunta, MDI; McAnulty, RJ; Tagalakis, AD; Bottoms, SE; Campbell, F; Hailes, HC; Laurent, GJ; ... Hart, SL; + view all Manunta, MDI; McAnulty, RJ; Tagalakis, AD; Bottoms, SE; Campbell, F; Hailes, HC; Laurent, GJ; O'Callaghan, C; Hart, SL; - view fewer (2011) Nebulisation of Receptor-Targeted Nanocomplexes for Gene Delivery to the Airway Epithelium. PLoS ONE , 6 (10) , Article e26768. 10.1371/journal.pone.0026768.

Manunta, MDI; McAnulty, RJ; Tagalakis, AD; Bottoms, SE; Campbell, F; Hailes, HC; Tabor, AB; ... Hart, SL; + view all Manunta, MDI; McAnulty, RJ; Tagalakis, AD; Bottoms, SE; Campbell, F; Hailes, HC; Tabor, AB; Laurent, GJ; O'Callaghan, C; Hart, SL; - view fewer (2011) Nebulisation of Receptor-Targeted Nanocomplexes for Gene Delivery to the Airway Epithelium. PLOS ONE , 6 (10) , Article e26768. 10.1371/journal.pone.0026768.

Meng, JH; Adkin, CF; Xu, SW; Muntoni, F; Morgan, JE; (2011) Contribution of Human Muscle-Derived Cells to Skeletal Muscle Regeneration in Dystrophic Host Mice. PLOS ONE , 6 (3) , Article e17454. 10.1371/journal.pone.0017454.

Owen, N; Zhou, HY; Malygin, AA; Sangha, J; Smith, LD; Muntoni, F; Eperon, IC; (2011) Design principles for bifunctional targeted oligonucleotide enhancers of splicing. Nucleic Acids Research , 39 (16) 7194- 7208. 10.1093/nar/gkr152.

Plagnol, V; Nalls, MA; Bras, JM; Hernandez, DG; Sharma, M; Sheerin, UM; Saad, M; ... WTCCC2; + view all Plagnol, V; Nalls, MA; Bras, JM; Hernandez, DG; Sharma, M; Sheerin, UM; Saad, M; Simon-Sanchez, J; Schulte, C; Lesage, S; Sveinbjornsdottir, S; Amouyel, P; Arepalli, S; Band, G; Barker, RA; Bellinguez, C; Ben-Shlomo, Y; Berendse, HW; Berg, D; Bhatia, K; de Bie, RMA; Biffi, A; Bloem, B; Bochdanovits, Z; Bonin, M; Brockmann, K; Brooks, J; Burn, DJ; Charlesworth, G; Chen, HL; Chinnery, PF; Chong, S; Clarke, CE; Cookson, MR; Cooper, JM; Corvol, JC; Counsell, C; Damier, P; Dartigues, JF; Deloukas, P; Deuschl, G; Dexter, DT; van Dijk, KD; Dillman, A; Durif, F; Durr, A; Edkins, S; Evans, JR; Foltynie, T; Freeman, C; Gao, JJ; Gardner, M; Gibbs, JR; Goate, A; Gray, E; Guerreiro, R; Gustafsson, O; Harris, C; Hellenthal, G; van Hilten, JJ; Hofman, A; Hollenbeck, A; Holton, J; Hu, M; Huang, XM; Huber, H; Hudson, G; Hunt, SE; Huttenlocher, J; Illig, T; Jonsson, PV; Langford, C; Lees, A; Lichtner, P; Limousin, P; Lopez, G; Lorenz, D; McNeill, A; Moorby, C; Moore, M; Morris, H; Morrison, KE; Mudanohwo, E; O'Sullivan, SS; Pearson, J; Pearson, R; Perlmutter, JS; Petursson, H; Pirinen, M; Pollak, P; Post, B; Potter, S; Ravina, B; Revesz, T; Riess, O; Rivadeneira, F; Rizzu, P; Ryten, M; Sawcer, S; Schapira, A; Scheffer, H; Shaw, K; Shoulson, I; Sidransky, E; de Silva, R; Smith, C; Spencer, CCA; Stefansson, H; Steinberg, S; Stockton, JD; Strange, A; Su, Z; Talbot, K; Tanner, CM; Tashakkori-Ghanbaria, A; Tison, F; Trabzuni, D; Traynor, BJ; Uitterlinden, AG; Vandrovcova, J; Velseboer, D; Vidailhet, M; Vukcevic, D; Walker, R; van de Warrenburg, B; Weale, ME; Wickremaratchi, M; Williams, N; Williams-Gray, CH; Winder-Rhodes, S; Stefansson, K; Martinez, M; Donnelly, P; Singleton, AB; Hardy, J; Heutink, P; Brice, A; Gasser, T; Wood, NW; WTCCC2; - view fewer (2011) A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease. PLoS Genetics , 7 (6) , Article e1002142. 10.1371/journal.pgen.1002142.

Tomaselli, S; Megiorni, F; Lin, L; Mazzilli, MC; Gerrelli, D; Majore, S; Grammatico, P; Tomaselli, S; Megiorni, F; Lin, L; Mazzilli, MC; Gerrelli, D; Majore, S; Grammatico, P; Achermann, JC; - view fewer (2011) Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments beta-Catenin Signaling. PLOS ONE , 6 (1) , Article e16366. 10.1371/journal.pone.0016366.

Townsend, CL; Peckham, CS; Tookey, PA; (2011) Surveillance of congenital cytomegalovirus in the UK and Ireland. ARCH DIS CHILD-FETAL , 96 (6) F398 - F403. 10.1136/adc.2010.199901.

2010

Bashamboo, A; Ferraz-de-Souza, B; Lourenco, D; Lin, L; Sebire, NJ; Montjean, D; Bignon-Topalovic, J; ... McElreavey, K; + view all Bashamboo, A; Ferraz-de-Souza, B; Lourenco, D; Lin, L; Sebire, NJ; Montjean, D; Bignon-Topalovic, J; Mandelbaum, J; Siffroi, JP; Christin-Maitre, S; Radhakrishna, U; Rouba, H; Ravel, C; Seeler, J; Achermann, JC; McElreavey, K; - view fewer (2010) Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1. The American Journal of Human Genetics , 87 (4) 505 - 512. 10.1016/j.ajhg.2010.09.009.

Brain, CE; Creighton, SM; Mushtaq, I; Carmichael, PA; Barnicoat, A; Honour, JW; Larcher, V; Brain, CE; Creighton, SM; Mushtaq, I; Carmichael, PA; Barnicoat, A; Honour, JW; Larcher, V; Achermann, JC; - view fewer (2010) Holistic management of DSD. Best Practice and Research Clinical Endocrinology and Metabolism , 24 (2) 335 - 354. 10.1016/j.beem.2010.01.006.

Frost, JM; Monk, D; Stojilkovic-Mikic, T; Woodfine, K; Chitty, LS; Murrell, A; Stanier, P; Frost, JM; Monk, D; Stojilkovic-Mikic, T; Woodfine, K; Chitty, LS; Murrell, A; Stanier, P; Moore, GE; - view fewer (2010) Evaluation of allelic expression of imprinted genes in adult human blood. PLoS One , 5 (10) , Article e13556. 10.1371/journal.pone.0013556.

Lassot, I; Robbins, I; Kristiansen, M; Rahmeh, R; Jaudon, F; Magiera, M; Mora, S; ... Desagher, S; + view all Lassot, I; Robbins, I; Kristiansen, M; Rahmeh, R; Jaudon, F; Magiera, M; Mora, S; Vanhille, L; Lipkin, A; Pettmann, B; Ham, J; Desagher, S; - view fewer (2010) Trim17, novel E3 ubiquitin-ligase, initiates neuronal apoptosis. Cell Death and Differentiation , 17 (12) 1928 - 1941. 10.1038/cdd.2010.73.

Lopez, LC; Quinzii, CM; Area, E; Naini, A; Rahman, S; Schuelke, M; Salviati, L; ... Hirano, M; + view all Lopez, LC; Quinzii, CM; Area, E; Naini, A; Rahman, S; Schuelke, M; Salviati, L; DiMauro, S; Hirano, M; - view fewer (2010) Treatment of CoQ(10) Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects. PLOS ONE , 5 (7) , Article e11897. 10.1371/journal.pone.0011897.

Morgan, NV; Morris, MR; Cangul, H; Gleeson, D; Straatman-Iwanowska, A; Davies, N; Keenan, S; ... Maher, ER; + view all Morgan, NV; Morris, MR; Cangul, H; Gleeson, D; Straatman-Iwanowska, A; Davies, N; Keenan, S; Pasha, S; Rahman, F; Gentle, D; Vreeswijk, MPG; Devilee, P; Knowles, MA; Ceylaner, S; Trembath, RC; Dalence, C; Kismet, E; Koseoglu, V; Rossbach, HC; Gissen, P; Tannahill, D; Maher, ER; - view fewer (2010) Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease. PLoS Genetics , 6 (2) , Article e1000833. 10.1371/journal.pgen.1000833.

Raychaudhuri, S; Korn, JM; McCarroll, SA; International Schizophrenia, C; Altshuler, D; Sklar, P; Purcell, S; Raychaudhuri, S; Korn, JM; McCarroll, SA; International Schizophrenia, C; Altshuler, D; Sklar, P; Purcell, S; Daly, MJ; - view fewer (2010) Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function. PLoS Genetics , 6 (9) , Article e1001097. 10.1371/journal.pgen.1001097.

Sahakitrungruang, T; Soccio, RE; Lang-Muritano, M; Walker, JM; Achermann, JC; Miller, WL; (2010) Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR). The Journal of Clinical Endocrinology & Metabolism , 95 (7) 3352 - 3359. 10.1210/jc.2010-0437.

2009

Bartington, SE; Peckham, C; Brown, D; Joshi, H; Dezateux, C; Millennium Cohort Study Child Hlth, MM; (2009) Feasibility of collecting oral fluid samples in the home setting to determine seroprevalence of infections in a large-scale cohort of preschool-aged children. EPIDEMIOL INFECT , 137 (2) 211 - 218. 10.1017/S0950268808000927.

Christie, D; Strange, V; Allen, E; Oliver, S; Wong, ICK; Smith, F; Cairns, J; ... Elbourne, D; + view all Christie, D; Strange, V; Allen, E; Oliver, S; Wong, ICK; Smith, F; Cairns, J; Thompson, R; Hindmarsh, P; O'Neill, S; Bull, C; Viner, R; Elbourne, D; - view fewer (2009) Maximising engagement, motivation and long term change in a Structured Intensive Education Programme in Diabetes for children, young people and their families: Child and Adolescent Structured Competencies Approach to Diabetes Education (CASCADE). BMC Pediatrics , 9 , Article 57. 10.1186/1471-2431-9-57.

Ferraz-De-Souza, B; Martin, F; Mallet, D; Hudson-Davies, RE; Cogram, P; Lin, L; Gerrelli, D; ... Achermann, JC; + view all Ferraz-De-Souza, B; Martin, F; Mallet, D; Hudson-Davies, RE; Cogram, P; Lin, L; Gerrelli, D; Beuschlein, F; Morel, Y; Huebner, A; Achermann, JC; - view fewer (2009) CBP/p300-Interacting Transactivator, with Glu/Asp-Rich C-Terminal Domain, 2, and Pre-B-Cell Leukemia Transcription Factor 1 in Human Adrenal Development and Disease. The Journal of Clinical Endocrinology & Metabolism , 94 (2) 678 - 683. 10.1210/jc.2008-1064.

Metherell, LA; Naville, D; Halaby, G; Begeot, M; Huebner, A; Nurnberg, G; Nurnberg, P; ... Clark, AJL; + view all Metherell, LA; Naville, D; Halaby, G; Begeot, M; Huebner, A; Nurnberg, G; Nurnberg, P; Green, J; Tomlinson, JW; Krone, NP; Lin, L; Racine, M; Berney, DM; Achermann, JC; Arlt, W; Clark, AJL; - view fewer (2009) Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency. The Journal of Clinical Endocrinology & Metabolism , 94 (10) 3865 - 3871. 10.1210/jc.2009-0467.

Raychaudhuri, S; Plenge, RM; Rossin, EJ; Altshuler, D; Daly, MJ; Purcell, SM; Sklar, P; ... Macedo, A; + view all Raychaudhuri, S; Plenge, RM; Rossin, EJ; Altshuler, D; Daly, MJ; Purcell, SM; Sklar, P; Scolnick, EM; Korn, J; Ruderfer, DM; Stone, JL; Ng, ACY; Xavier, RJ; Chambert, K; Ardlie, K; Gates, C; Mahon, S; Craddock, NJ; Georgieva, L; Holmans, PA; Kirov, GK; Nikolov, I; Norton, N; O'Donovan, MC; Owen, MJ; Williams, H; Williams, NM; Bass, N; Choudhury, K; Datta, S; Gurling, H; Krasucki, R; Lawrence, J; McQuillin, A; Pimm, J; Puri, V; Blackwood, DHR; Maclean, AW; Malloy, P; McGhee, KA; Muir, WJ; Pickard, B; Van Beck, M; Corvin, A; Gill, M; Kenny, E; Morris, DW; O'Dushlaine, CT; Hultman, CM; Lichtenstein, P; Thelander, EF; Carvalho, C; Conti, D; Fanous, A; Knowles, JA; Medeiros, H; Pato, CN; Soh, LK; St Clair, D; Gabrie, SB; Sullivan, PF; Macgregor, S; Visscher, PM; Toncheva, D; Milanova, V; Waddington, JL; Thirumalai, S; Quested, D; Curtis, D; Crombie, C; Fraser, G; Walker, N; Middleton, F; Morley, C; Ferreira, CP; Azevedo, MH; Macedo, A; - view fewer (2009) Identifying relationships among genomic disease regions: Predicting genes at pathogenic SNP associations and rare deletions. PLoS Genetics , 5 (6) , Article e1000534. 10.1371/journal.pgen.1000534.

2008

Kelberman, D; de Castro, SCP; Huang, SW; Crolla, JA; Palmer, R; Gregory, JW; Taylor, D; ... Dattani, MT; + view all Kelberman, D; de Castro, SCP; Huang, SW; Crolla, JA; Palmer, R; Gregory, JW; Taylor, D; Cavallo, L; Faienza, MF; Fischetto, R; Achermann, JC; Martinez-Barbera, JP; Rizzoti, K; Lovell-Badge, R; Robinson, ICAF; Gerrelli, D; Dattani, MT; - view fewer (2008) SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. The Journal of Clinical Endocrinology & Metabolism , 93 (5) 1865 - 1873. 10.1210/jc.2007-2337.

Kim, CJ; Lin, L; Huang, NW; Quigley, CA; AvRuskin, TW; Achermann, JC; Miller, WL; (2008) Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc. The Journal of Clinical Endocrinology & Metabolism , 93 (3) 696 - 702. 10.1210/jc.2007-2330.

Wood-Kaczmar, A; Gandhi, S; Yao, Z; Abramov, ASY; Miljan, EA; Keen, G; Stanyer, L; ... Wood, NW; + view all Wood-Kaczmar, A; Gandhi, S; Yao, Z; Abramov, ASY; Miljan, EA; Keen, G; Stanyer, L; Hargreaves, I; Klupsch, K; Deas, E; Downward, J; Mansfield, L; Jat, P; Taylor, J; Heales, S; Duchen, MR; Latchman, D; Tabrizi, SJ; Wood, NW; - view fewer (2008) PINK1 Is Necessary for Long Term Survival and Mitochondrial Function in Human Dopaminergic Neurons. PLOS ONE , 3 (6) , Article e2455. 10.1371/journal.pone.0002455.

2007

Andoniadou, CL; Signore, M; Sajedi, E; Gaston-Massuet, C; Kelberman, D; Burns, AJ; Itasaki, N; ... Martinez-Barbera, JP; + view all Andoniadou, CL; Signore, M; Sajedi, E; Gaston-Massuet, C; Kelberman, D; Burns, AJ; Itasaki, N; Dattani, M; Martinez-Barbera, JP; - view fewer (2007) Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain. DEVELOPMENT , 134 (8) 1499 - 1508. 10.1242/dev.02829.

Lin, L; Hindmarsh, PC; Metherell, LA; Alzyoud, M; Al-Ali, M; Brain, CE; Clark, AJL; ... Achermann, JC; + view all Lin, L; Hindmarsh, PC; Metherell, LA; Alzyoud, M; Al-Ali, M; Brain, CE; Clark, AJL; Dattani, MT; Achermann, JC; - view fewer (2007) Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia. Clinical Endocrinology , 66 (2) 205 - 210. 10.1111/j.1365-2265.2006.02709.x.

Lin, L; Philibert, P; Ferraz-de-Souza, B; Kelberman, D; Homfray, T; Albanese, A; Molini, V; ... Achermann, JC; + view all Lin, L; Philibert, P; Ferraz-de-Souza, B; Kelberman, D; Homfray, T; Albanese, A; Molini, V; Sebire, NJ; Einaudi, S; Conway, GS; Hughes, IA; Jameson, JL; Sultan, C; Dattani, MT; Achermann, JC; - view fewer (2007) Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. The Journal of Clinical Endocrinology & Metabolism , 92 (3) 991 - 999. 10.1210/jc.2006-1672.

Runne, H; Kuhn, A; Wild, EJ; Pratyaksha, W; Kristiansen, M; Isaacs, JD; Regulier, E; ... Luthi-Carter, R; + view all Runne, H; Kuhn, A; Wild, EJ; Pratyaksha, W; Kristiansen, M; Isaacs, JD; Regulier, E; Delorenzi, M; Tabrizi, SJ; Luthi-Carter, R; - view fewer (2007) Analysis of potential transcriptomic biomarkers for Huntington's disease in peripheral blood. Proceedings of the National Academy of Sciences , 104 (36) 14424 - 14429. 10.1073/pnas.0703652104.

2006

Baker, BY; Lin, L; Kim, CJ; Raza, J; Smith, CP; Miller, WL; Achermann, JC; (2006) Nonclassic congenital lipoid adrenal hyperplasia: A new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia. The Journal of Clinical Endocrinology & Metabolism , 91 (12) 4781 - 4785. 10.1210/jc.2006-1565.

Brooke, AM; Taylor, NF; Shepherd, JH; Gore, ME; Ahmad, T; Lin, L; Rumsby, G; ... Monson, JP; + view all Brooke, AM; Taylor, NF; Shepherd, JH; Gore, ME; Ahmad, T; Lin, L; Rumsby, G; Papari-Zareei, M; Auchus, RJ; Achermann, JC; Monson, JP; - view fewer (2006) A novel point mutation in P450c17 (CYP17) causing combined 17 alpha-hydroxylase/17,20-lyase deficiency. The Journal of Clinical Endocrinology & Metabolism , 91 (6) 2428 - 2431. 10.1210/jc.2005-2653.

Chitty, LS; Kagan, KO; Molina, FS; Waters, JJ; Nicolaides, KH; (2006) Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study. BMJ-BRITISH MEDICAL JOURNAL , 332 (7539) pp. 452-454. 10.1136/bmj.38730.655197.AE.

Lin, L; Conway, GS; Hill, NR; Dattani, MT; Hindmarsh, PC; Achermann, JC; (2006) A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia. The Journal of Clinical Endocrinology & Metabolism , 91 (12) 5117 - 5121. 10.1210/jc.2006-0807.

Lin, L; Gu, WX; Ozisik, G; To, WS; Owen, CJ; Jameson, JL; Achermann, JC; (2006) Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: Ten years' experience. The Journal of Clinical Endocrinology & Metabolism , 91 (8) 3048 - 3054. 10.1210/jc.2006-0603.

Rahi, JS; Cumberland, PM; Peckham, CS; (2006) Does amblyopia affect educational, health, and social outcomes? Findings from 1958 British birth cohort. BRIT MED J , 332 (7545) 820 - 824. 10.1136/bmj.38751.597963.AE.

Samad, L; Tate, AR; Dezateux, C; Peckham, C; Butler, N; Bedford, H; (2006) Differences in risk factors for partial and no immunisation in the first year of life: prospective cohort study. BMJ-BRITISH MEDICAL JOURNAL , 332 (7553) pp. 1312-1313. 10.1136/bmj.332.7553.1312.

2005

Duncan, AJ; Heales, SJR; Mills, K; Eaton, S; Land, JM; Hargreaves, IP; (2005) Determination of coenzyme Q(10) status in blood mononuclear cells, skeletal muscle, and plasma by HPLC with Di-propoxy-coenzyme Q(10) as an internal standard. CLIN CHEM , 51 (12) 2380 - 2382. 10.1373/clinchem.2005.054643.

Fluck, CE; Maret, A; Mallet, D; Portrat-Doyen, S; Achermann, JC; Leheup, B; Theintz, GE; ... Morel, Y; + view all Fluck, CE; Maret, A; Mallet, D; Portrat-Doyen, S; Achermann, JC; Leheup, B; Theintz, GE; Mullis, PE; Morel, Y; - view fewer (2005) A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of swiss ancestry with congenital lipoid adrenal hyperplasia. The Journal of Clinical Endocrinology & Metabolism , 90 (9) 5304 - 5308. 10.1210/jc.2005-0874.

Giaquinto, C; Ruga, E; De Rossi, A; Grosch-Worner, I; Mok, J; de Jose, I; Bates, I; ... Horban, A; + view all Giaquinto, C; Ruga, E; De Rossi, A; Grosch-Worner, I; Mok, J; de Jose, I; Bates, I; Hawkins, F; de Guevara, CL; Pena, JM; Garcia, JG; Lopez, JRA; Garcia-Rodriguez, MC; Asensi-Botet, F; Otero, MC; Perez-Tamarit, DP; Suarez, G; Scherpbier, H; Kreyenbroek, M; Boer, K; Bohlin, AB; Lindgren, S; Ehrnst, A; Belfrage, E; Naver, L; Lidman, K; Anzen, B; Levy, J; Barlow, P; Hainaut, M; Peltier, A; Goetghebuer, T; Ferrazin, A; Bassetti, D; De Maria, A; Gotta, C; Mur, A; Paya, A; Vinolas, M; Lopez-Vilchez, MA; Rovira; Carreras, R; Valerius, NH; Jimenez, J; Coll, O; Suy, A; Perez, JM; Fortuny, C; Caro, MC; Canet, Y; Savasi, V; Vigano, A; Ferrazi, E; Alberico, S; Rabusin, M; Bernardon, M; Taylor, GP; Lyall, EGH; Penn, Z; Buffolano, W; Tiseo, R; Martinelli, P; Agangi, A; Sansone, M; Tibaldi, C; Marini, S; Masuelli, G; Benedetto, C; Niemiec, T; Marczynska, M; Horban, A; - view fewer (2005) Mother-to-child transmission of HIV infection in the era of highly active antiretroviral therapy. CLINICAL INFECTIOUS DISEASES , 40 (3) pp. 458-465.

Hernández, VH; (2005) RNA interference is ineffective as a routine method for gene silencing in chick embryos as monitored by fgf8 silencing. International Journal of Biological Sciences , 1 (1) pp. 1-12. 10.7150/ijbs.1.1.

Hiort, O; Holterhus, PM; Werner, R; Marschke, C; Hoppe, U; Partsch, CJ; Riepe, FG; ... Struve, D; + view all Hiort, O; Holterhus, PM; Werner, R; Marschke, C; Hoppe, U; Partsch, CJ; Riepe, FG; Achermann, JC; Struve, D; - view fewer (2005) Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure. The Journal of Clinical Endocrinology & Metabolism , 90 (1) 538 - 541. 10.1210/jc.2004-1059.

Semple, RK; Achermann, JC; Ellery, J; Farooqi, IS; Karet, FE; Stanhope, RG; O'Rahilly, S; Semple, RK; Achermann, JC; Ellery, J; Farooqi, IS; Karet, FE; Stanhope, RG; O'Rahilly, S; Aparicio, SA; - view fewer (2005) Two novel missense mutations in G protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism. The Journal of Clinical Endocrinology & Metabolism , 90 (3) 1849 - 1855. 10.1210/jc.2004-1418.

Signore, M; Sajedi, S; Gaston-Massuet, C; Dattani, M; Martinez-Barbera, JP; (2005) Role of the Homeobox Gene Hesx1 in forebrain and pituitary formation in mouse and human. Developmental Biology , 122 (Supple) S33 - S33. 10.1016/j.mod.2005.06.010.

Spencer, H; Rampling, D; Aurora, P; Bonnet, D; Hart, SL; Jaffe, A; (2005) Transbronchial biopsies provide longitudinal evidence for epithelial chimerism in children following sex mismatched lung transplantation. THORAX , 60 (1) 60 - 62. 10.1136/thx.2004.029678.

2004

Cole, TJ; Hindmarsh, PC; Dunger, DB; (2004) Growth hormone (GH) provocation tests and the response to GH treatment in GH deficiency. ARCH DIS CHILD , 89 (11) 1024 - 1027. 10.1136/adc.2003.043406.

Cumberland, P; Rahi, JS; Peckham, CS; (2004) Impact of congenital colour vision deficiency on education and unintentional injuries: findings from the 1958 British birth cohort. BRIT MED J , 329 (7474) 1074 - 1075. 10.1136/bmj.38176.685208.F7.

Hodges, RJ; Jenkins, RG; Wheeler-Jones, CPD; Copeman, DM; Bottoms, SE; Bellingan, GJ; Nanthakumar, CB; ... McAnulty, RJ; + view all Hodges, RJ; Jenkins, RG; Wheeler-Jones, CPD; Copeman, DM; Bottoms, SE; Bellingan, GJ; Nanthakumar, CB; Laurent, GJ; Hart, SL; Foster, ML; McAnulty, RJ; - view fewer (2004) Severity of lung injury in cyclooxygenase-2-deficient mice is dependent on reduced prostaglandin E-2 production. AM J PATHOL , 165 (5) 1663 - 1676.

Jeganathan, D; Chodhari, R; Meeks, M; Faeroe, O; Smyth, D; Nielsen, K; Amirav, I; ... Mitchison, HM; + view all Jeganathan, D; Chodhari, R; Meeks, M; Faeroe, O; Smyth, D; Nielsen, K; Amirav, I; Luder, AS; Bisgaard, H; Gardiner, RM; Chung, EMK; Mitchison, HM; - view fewer (2004) Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates. J MED GENET , 41 (3) 233 - 239. 10.1136/jmg.2003.014084.

2003

Carvalho, LR; Woods, KS; Mendonca, BB; Marcal, N; Zamparini, AL; Stifani, S; Brickman, JM; ... Dattani, MT; + view all Carvalho, LR; Woods, KS; Mendonca, BB; Marcal, N; Zamparini, AL; Stifani, S; Brickman, JM; Arnhold, IJP; Dattani, MT; - view fewer (2003) A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction. Journal of Clinical Investigation , 112 (8) pp. 1192-1201. 10.1172/JCI18589.

Jackson, RS; Creemers, JWM; Farooqi, IS; Raffin-Sanson, ML; Varro, A; Dockray, GJ; Holst, JJ; ... O'Rahilly, S; + view all Jackson, RS; Creemers, JWM; Farooqi, IS; Raffin-Sanson, ML; Varro, A; Dockray, GJ; Holst, JJ; Brubaker, PL; Corvol, P; Polonsky, KS; Ostrega, D; Becker, KL; Bertagna, X; Hutton, JC; White, A; Dattani, MT; Hussain, K; Middleton, SJ; Nicole, TM; Milla, PJ; Lindley, KJ; O'Rahilly, S; - view fewer (2003) Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. Journal of Clinical Investigation , 112 (10) pp. 1550-1560. 10.1172/JCI200318784.

Lemonde, HA; Custard, EJ; Bouquet, J; Duran, M; Overmars, H; Scambler, PJ; Clayton, PT; (2003) Mutations in SRD5B1 (AKR1D1), the gene encoding Delta(4)-3-oxosteroid 5 beta-reductase, in hepatitis and liver failure in infancy. GUT , 52 (10) 1494 - 1499.

McManus, IC; Mitchison, HM; Chung, EM; Stubbings, GF; Martin, N; (2003) Primary ciliary dyskinesia (Siewert's/Kartagener's syndrome): respiratory symptoms and psycho-social impact. BMC Pulmonary Medicine , 3 , Article 4. 10.1186/1471-2466-3-4.

Ozisik, G; Mantovani, G; Achermann, JC; Persani, L; Spada, A; Weiss, J; Beck-Peccoz, P; Ozisik, G; Mantovani, G; Achermann, JC; Persani, L; Spada, A; Weiss, J; Beck-Peccoz, P; Jameson, JL; - view fewer (2003) An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita. The Journal of Clinical Endocrinology & Metabolism , 88 (1) 417 - 423. 10.1210/jc.2002-021034.

2002

Achermann, JC; Ozisik, G; Meeks, JJ; Jameson, JL; (2002) Genetic causes of human reproductive disease. The Journal of Clinical Endocrinology & Metabolism , 87 (6) 2447 - 2454. 10.1210/jc.87.6.2447.

Mantovani, G; Ozisik, G; Achermann, JC; Romoli, R; Borretta, G; Persani, L; Spada, A; ... Beck-Peccoz, P; + view all Mantovani, G; Ozisik, G; Achermann, JC; Romoli, R; Borretta, G; Persani, L; Spada, A; Jameson, JL; Beck-Peccoz, P; - view fewer (2002) Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita. The Journal of Clinical Endocrinology & Metabolism , 87 (1) 44 - 48. 10.1210/jc.87.1.44.

Salvi, R; Gomez, F; Fiaux, M; Schorderet, D; Jameson, JL; Achermann, JC; Gaillard, RC; Salvi, R; Gomez, F; Fiaux, M; Schorderet, D; Jameson, JL; Achermann, JC; Gaillard, RC; Pralong, FP; - view fewer (2002) Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1. The Journal of Clinical Endocrinology & Metabolism , 87 (9) 4094 - 4100. 10.1210/jc.2001-011930.

2001

Achermann, JC; Ito, M; Silverman, BL; Habiby, RL; Pang, S; Rosler, A; Jameson, JL; (2001) Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression. The Journal of Clinical Endocrinology & Metabolism , 86 (7) 3171 - 3175. 10.1210/jc.86.7.3171.

Bedford, H; de Louvois, J; Halket, S; Peckham, C; Hurley, R; Harvey, D; (2001) Meningitis in infancy in England and Wales: follow up at age 5 years. BMJ , 323 (7312) pp. 533-536. 10.1136/bmj.323.7312.533.

Brickman, JM; Clements, M; Tyrell, R; McNay, D; Woods, K; Warner, J; Stewart, A; ... Dattani, M; + view all Brickman, JM; Clements, M; Tyrell, R; McNay, D; Woods, K; Warner, J; Stewart, A; Beddington, RSP; Dattani, M; - view fewer (2001) Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders. DEVELOPMENT , 128 (24) 5189 - 5199.

Clayton, PT; Eaton, S; Aynsley-Green, A; Edginton, M; Hussain, K; Krywawych, S; Datta, V; ... van den Berg, IET; + view all Clayton, PT; Eaton, S; Aynsley-Green, A; Edginton, M; Hussain, K; Krywawych, S; Datta, V; Malingre, HEM; Berger, R; van den Berg, IET; - view fewer (2001) Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. Journal of Clinical Investigation , 108 (3) 457 - 465. 10.1172/JCI11294.

1999

Achermann, JC; Gu, WX; Kotlar, TJ; Meeks, JJ; Sabacan, LP; Seminara, SB; Habiby, RL; ... Jameson, JL; + view all Achermann, JC; Gu, WX; Kotlar, TJ; Meeks, JJ; Sabacan, LP; Seminara, SB; Habiby, RL; Hindmarsh, PC; Bick, DP; Sherins, RJ; Crowley, WF; Layman, LC; Jameson, JL; - view fewer (1999) Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay. The Journal of Clinical Endocrinology & Metabolism , 84 (12) 4497 - 4500. 10.1210/jc.84.12.4497.

Reutens, AT; Achermann, JC; Ito, M; Ito, M; Gu, WX; Habiby, RL; Donohoue, PA; ... Jameson, JL; + view all Reutens, AT; Achermann, JC; Ito, M; Ito, M; Gu, WX; Habiby, RL; Donohoue, PA; Pang, SY; Hindmarsh, PC; Jameson, JL; - view fewer (1999) Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. The Journal of Clinical Endocrinology & Metabolism , 84 (2) 504 - 511. 10.1210/jc.84.2.504.

Seminara, SB; Achermann, JC; Genel, M; Jameson, JL; Crowley, WF; (1999) X-linked adrenal hypoplasia congenita: A mutation in DAX1 expands the phenotypic spectrum in males and females. The Journal of Clinical Endocrinology & Metabolism , 84 (12) 4501 - 4509. 10.1210/jc.84.12.4501.

1998

Achermann, JC; (1998) The pathophysiology of post-irradiation growth hormone insufficiency. Doctoral thesis , UNSPECIFIED.

1997

de Pina-Neto, JM; Ferraz, VEF; Molfetta, GA; Buxton, J; Rickard, S; Malcolm, S; (1997) Clinical-Neurological, cytogenetic and molecular aspects of Prader-Willi and Angelman syndromes. Arquivos de Neuro-Psiquiatria , 55 199 - 208. 10.1590/S0004-282X1997000200006.

1993

ADES, AE; PARKER, S; GILBERT, R; TOOKEY, PA; BERRY, T; HJELM, M; WILCOX, AH; ... PECKHAM, CS; + view all ADES, AE; PARKER, S; GILBERT, R; TOOKEY, PA; BERRY, T; HJELM, M; WILCOX, AH; CUBITT, D; PECKHAM, CS; - view fewer (1993) MATERNAL PREVALENCE OF TOXOPLASMA ANTIBODY BASED ON ANONYMOUS NEONATAL SEROSURVEY - A GEOGRAPHICAL ANALYSIS. EPIDEMIOL INFECT , 110 (1) 127 - 133. 10.1017/S0950268800050755.

1990

Tookey, P; Logan, S; Peckham, CS; (1990) Maternal and fetal screening. [Letter]. British Medical Journal , 300 (6738) 1526 - 1527. 10.1136/bmj.300.6738.1526-c.

1989

MOLE, SE; IGGO, RD; LANE, DP; (1989) Using the polymerase chain-reaction to modify expression plasmids for epitope mapping. Nucleic Acids Researc , 17 (8) 3319 - 3319. 10.1093/nar/17.8.3319.