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Number of items: 137.

A

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).

Anttila, V; Bulik-Sullivan, B; Finucane, HK; Walters, RK; Bras, J; Duncan, L; Escott-Price, V; ... Neale, BM; + view all Anttila, V; Bulik-Sullivan, B; Finucane, HK; Walters, RK; Bras, J; Duncan, L; Escott-Price, V; Falcone, GJ; Gormley, P; Malik, R; Patsopoulos, NA; Ripke, S; Wei, Z; Yu, D; Lee, PH; Turley, P; Grenier-Boley, B; Chouraki, V; Kamatani, Y; Berr, C; Letenneur, L; Hannequin, D; Amouyel, P; Boland, A; Deleuze, J-F; Duron, E; Vardarajan, BN; Reitz, C; Goate, AM; Huentelman, MJ; Kamboh, MI; Larson, EB; Rogaeva, E; St George-Hyslop, P; Hakonarson, H; Kukull, WA; Farrer, LA; Barnes, LL; Beach, TG; Demirci, FY; Head, E; Hulette, CM; Jicha, GA; Kauwe, JSK; Kaye, JA; Leverenz, JB; Levey, AI; Lieberman, AP; Pankratz, VS; Poon, WW; Quinn, JF; Saykin, AJ; Schneider, LS; Smith, AG; Sonnen, JA; Stern, RA; Van Deerlin, VM; Van Eldik, LJ; Harold, D; Russo, G; Rubinsztein, DC; Bayer, A; Tsolaki, M; Proitsi, P; Fox, NC; Hampel, H; Owen, MJ; Mead, S; Passmore, P; Morgan, K; Noethen, MM; Rossor, M; Lupton, MK; Hoffmann, P; Kornhuber, J; Lawlor, B; McQuillin, A; Al-Chalabi, A; Bis, JC; Ruiz, A; Boada, M; Seshadri, S; Beiser, A; Rice, K; van der Lee, SJ; De Jager, PL; Geschwind, DH; Riemenschneider, M; Riedel-Heller, S; Rotter, JI; Ransmayr, G; Hyman, BT; Cruchaga, C; Alegret, M; Winsvold, B; Palta, P; Farh, K-H; Cuenca-Leon, E; Furlotte, N; Kurth, T; Ligthart, L; Terwindt, GM; Freilinger, T; Ran, C; Gordon, SD; Borck, G; Adams, HHH; Lehtimaki, T; Wedenoja, J; Buring, JE; Schuerks, M; Hrafnsdottir, M; Hottenga, J-J; Penninx, B; Artto, V; Kaunisto, M; Vepsalainen, S; Martin, NG; Montgomery, GW; Kurki, MI; Hamalainen, E; Huang, H; Huang, J; Sandor, C; Webber, C; Muller-Myhsok, B; Schreiber, S; Salomaa, V; Loehrer, E; Goebel, H; Macaya, A; Pozo-Rosich, P; Hansen, T; Werge, T; Kaprio, J; Metspalu, A; Kubisch, C; Ferrari, MD; Belin, AC; van den Maagdenberg, AMJM; Zwart, J-A; Boomsma, D; Eriksson, N; Olesen, J; Chasman, DI; Nyholt, DR; Avbersek, A; Baum, L; Berkovic, S; Bradfield, J; Buono, R; Catarino, CB; Cossette, P; De Jonghe, P; Depondt, C; Dlugos, D; Ferraro, TN; French, J; Hjalgrim, H; Jamnadas-Khoda, J; Kalviainen, R; Kunz, WS; Lerche, H; Leu, C; Lindhout, D; Lo, W; Lowenstein, D; McCormack, M; Moller, RS; Molloy, A; Ng, P-W; Oliver, K; Privitera, M; Radtke, R; Ruppert, A-K; Sander, T; Schachter, S; Schankin, C; Scheffer, I; Schoch, S; Sisodiya, SM; Smith, P; Sperling, M; Striano, P; Surges, R; Thomas, GN; Visscher, F; Whelan, CD; Zara, F; Heinzen, EL; Marson, A; Becker, F; Stroink, H; Zimprich, F; Gasser, T; Gibbs, R; Heutink, P; Martinez, M; Morris, HR; Sharma, M; Ryten, M; Mok, KY; Pulit, S; Bevan, S; Holliday, E; Attia, J; Battey, T; Boncoraglio, G; Thijs, V; Chen, W-M; Mitchell, B; Rothwell, P; Sharma, P; Sudlow, C; Vicente, A; Markus, H; Kourkoulis, C; Pera, J; Raffeld, M; Silliman, S; Perica, VB; Thornton, LM; Huckins, LM; Rayner, NW; Lewis, CM; Gratacos, M; Rybakowski, F; Keski-Rahkonen, A; Raevuori, A; Hudson, JI; Reichborn-Kjennerud, T; Monteleone, P; Karwautz, A; Mannik, K; Baker, JH; O'Toole, JK; Trace, SE; Davis, OSP; Helder, SG; Ehrlich, S; Herpertz-Dahlmann, B; Danner, UN; van Elburg, AA; Clementi, M; Forzan, M; Docampo, E; Lissowska, J; Hauser, J; Tortorella, A; Maj, M; Gonidakis, F; Tziouvas, K; Papezova, H; Yilmaz, Z; Wagner, G; Cohen-Woods, S; Herms, S; Julia, A; Rabionet, R; Dick, DM; Ripatti, S; Andreassen, OA; Espeseth, T; Lundervold, AJ; Steen, VM; Pinto, D; Scherer, SW; Aschauer, H; Schosser, A; Alfredsson, L; Padyukov, L; Halmi, KA; Mitchell, J; Strober, M; Bergen, AW; Kaye, W; Szatkiewicz, JP; Cormand, B; Antoni Ramos-Quiroga, J; Sanchez-Mora, C; Ribases, M; Casas, M; Hervas, A; Jesus Arranz, M; Haavik, J; Zayats, T; Johansson, S; Williams, N; Dempfle, A; Rothenberger, A; Kuntsi, J; Oades, RD; Banaschewski, T; Franke, B; Buitelaar, JK; Arias Vasquez, A; Doyle, AE; Reif, A; Lesch, K-P; Freitag, C; Rivero, O; Palmason, H; Romanos, M; Langley, K; Rietschel, M; Witt, SH; Dalsgaard, S; Borglum, AD; Waldman, I; Wilmot, B; Molly, N; Bau, CHD; Crosbie, J; Schachar, R; K., S; McGough, JJ; Grevet, EH; Medland, SE; Robinson, E; Weiss, LA; Bacchelli, E; Bailey, A; Bal, V; Battaglia, A; Betancur, C; Bolton, P; Cantor, R; Celestino-Soper, P; Dawson, G; De Rubeis, S; Duque, F; Green, A; Klauck, SM; Leboyer, M; Levitt, P; Maestrini, E; Mane, S; Moreno-De-Luca, D; Parr, J; Regan, R; Reichenberg, A; Sandin, S; Vorstman, J; Wassink, T; Wijsman, E; Cook, E; Santangelo, S; Delorme, R; Roge, B; Magalhaes, T; Arking, D; Schulze, TG; Thompson, RC; Strohmaier, J; Matthews, K; Melle, I; Morris, D; Blackwood, D; McIntosh, A; Bergen, SE; Schalling, M; Jamain, S; Maaser, A; Fischer, SB; Reinbold, CS; Fullerton, JM; Guzman-Parra, J; Mayoral, F; Schofield, PR; Cichon, S; Muhleisen, TW; Degenhardt, F; Schumacher, J; Bauer, M; Mitchell, PB; Gershon, ES; Rice, J; Potash, JB; Zandi, PP; Craddock, N; Ferrier, IN; Alda, M; Rouleau, GA; Turecki, G; Ophoff, R; Pato, C; Anjorin, A; Stahl, E; Leber, M; Czerski, PM; Cruceanu, C; Jones, IR; Posthuma, D; Andlauer, TFM; Forstner, AJ; Streit, F; Baune, BT; Air, T; Sinnamon, G; Wray, NR; MacIntyre, DJ; Porteous, D; Homuth, G; Rivera, M; Grove, J; Middeldorp, CM; Hickie, I; Pergadia, M; Mehta, D; Smit, JH; Jansen, R; de Geus, E; Dunn, E; Li, QS; Nauck, M; Schoevers, RA; Beekman, ATF; Knowles, JA; Viktorin, A; Arnold, P; Barr, CL; Bedoya-Berrio, G; Bienvenu, OJ; Brentani, H; Burton, C; Camarena, B; Cappi, C; Cath, D; Cavallini, M; Cusi, D; Darrow, S; Denys, D; Derks, EM; Dietrich, A; Fernandez, T; Figee, M; Freimer, N; Gerber, G; Grados, M; Greenberg, E; Hanna, GL; Hartmann, A; Hirschtritt, ME; Hoekstra, PJ; Huang, A; Huyser, C; Illmann, C; Jenike, M; Kuperman, S; Leventhal, B; Lochner, C; Lyon, GJ; Macciardi, F; Madruga-Garrido, M; Malaty, IA; Maras, A; McGrath, L; Miguel, EC; Mir, P; Nestadt, G; Nicolini, H; Okun, MS; Pakstis, A; Paschou, P; Piacentini, J; Pittenger, C; Plessen, K; Ramensky, V; Ramos, EM; Reus, V; Richter, MA; Riddle, MA; Robertson, MM; Roessner, V; Rosario, M; Samuels, JF; Sandor, P; Stein, DJ; Tsetsos, F; Van Nieuwerburgh, F; Weatherall, S; Wendland, JR; Wolanczyk, T; Worbe, Y; Zai, G; Goes, FS; McLaughlin, N; Nestadt, PS; Grabe, H-J; Depienne, C; Konkashbaev, A; Lanzagorta, N; Valencia-Duarte, A; Bramon, E; Buccola, N; Cahn, W; Cairns, M; Chong, SA; Cohen, D; Crespo-Facorro, B; Crowley, J; Davidson, M; DeLisi, L; Dinan, T; Donohoe, G; Drapeau, E; Duan, J; Haan, L; Hougaard, D; Karachanak-Yankova, S; Khrunin, A; Klovins, J; Kucinskas, V; Keong, JLC; Limborska, S; Loughland, C; Lonnqvist, J; Maher, B; Mattheisen, M; McDonald, C; Murphy, KC; Nenadic, I; van Os, J; Pantelis, C; Pato, M; Petryshen, T; Quested, D; Roussos, P; Sanders, AR; Schall, U; Schwab, SG; Sim, K; So, H-C; Stoegmann, E; Subramaniam, M; Toncheva, D; Waddington, J; Walters, J; Weiser, M; Cheng, W; Cloninger, R; Curtis, D; Gejman, PV; Henskens, F; Mattingsdal, M; Oh, S-Y; Scott, R; Webb, B; Breen, G; Churchhouse, C; Bulik, CM; Daly, M; Dichgans, M; Faraone, SV; Guerreiro, R; Holmans, P; Kendler, KS; Koeleman, B; Mathews, CA; Price, A; Scharf, J; Sklar, P; Williams, J; Wood, NW; Cotsapas, C; Palotie, A; Smoller, JW; Sullivan, P; Rosand, J; Corvin, A; Neale, BM; - view fewer (2018) Analysis of shared heritability in common disorders of the brain. Science , 360 (6395) , Article eaap8757. 10.1126/science.aap8757.

Apps, JR; Carreno, G; Mario Gonzalez-Meljem, J; Haston, S; Guiho, R; Cooper, JE; Manshaei, S; ... Martinez-Barbera, JP; + view all Apps, JR; Carreno, G; Mario Gonzalez-Meljem, J; Haston, S; Guiho, R; Cooper, JE; Manshaei, S; Jani, N; Holsken, A; Pettorini, B; Beynon, RJ; Simpson, DM; Fraser, HC; Hong, Y; Hallang, S; Stone, TJ; Virasami, A; Donson, AM; Jones, D; Aquilina, K; Spoudeas, H; Joshi, AR; Grundy, R; Storer, LCD; Korbonits, M; Hilton, DA; Tossell, K; Thavaraj, S; Ungless, MA; Gil, J; Buslei, R; Hankinson, T; Hargrave, D; Goding, C; Andoniadou, CL; Brogan, P; Jacques, TS; Williams, HJ; Martinez-Barbera, JP; - view fewer (2018) Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic target. Acta Neuropathologica , 135 (5) pp. 757-777. 10.1007/s00401-018-1830-2.

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.

B

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.

Blauwendraat, C; Reed, X; Kia, DA; Gan-Or, Z; Lesage, S; Pihlstrøm, L; Guerreiro, R; ... COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Ge; + view all Blauwendraat, C; Reed, X; Kia, DA; Gan-Or, Z; Lesage, S; Pihlstrøm, L; Guerreiro, R; Gibbs, JR; Sabir, M; Ahmed, S; Ding, J; Alcalay, RN; Hassin-Baer, S; Pittman, AM; Brooks, J; Edsall, C; Hernandez, DG; Chung, SJ; Goldwurm, S; Toft, M; Schulte, C; Bras, J; Wood, NW; Brice, A; Morris, HR; Scholz, SW; Nalls, MA; Singleton, AB; Cookson, MR; COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Ge; - view fewer (2018) Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease. JAMA Neurology 10.1001/jamaneurol.2018.1885. (In press).

Blundell, J; Frisson, S; Chakrapani, A; Gissen, P; Hendriksz, C; Vijay, S; Olson, A; (2018) Oculomotor abnormalities in children with Niemann-Pick type C. Molecular Genetics and Metabolism , 123 (2) pp. 159-168. 10.1016/j.ymgme.2017.11.004.

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.

Broce, I; Karch, CM; Wen, N; Fan, CC; Wang, Y; Tan, CH; Kouri, N; ... Sugrue, LP; + view all Broce, I; Karch, CM; Wen, N; Fan, CC; Wang, Y; Tan, CH; Kouri, N; Ross, OA; Hoeglinger, GU; Muller, U; Hardy, J; Momeni, P; Hess, CP; Dillon, WP; Miller, ZA; Bonham, LW; Rabinovici, GD; Rosen, HJ; Schellenberg, GD; Franke, A; Karlsen, TH; Veldink, JH; Ferrari, R; Yokoyama, JS; Miller, BL; Andreassen, OA; Dale, AM; Desikan, RS; Sugrue, LP; - view fewer (2018) Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies. PLoS Medicine , 15 (1) , Article e1002487. 10.1371/journal.pmed.1002487.

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.

C

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.

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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.

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Fassad, Mahmoud Raafat; (2018) Novel Gene Discovery in Primary Ciliary Dyskinesia. Doctoral thesis (Ph.D), UCL (University College London).

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Fernando, O; Tagalakis, AD; Shiekh Hassan Awwad, S; Brocchini, S; Khaw, PT; Hart, S; Yu-Wai-Man, C; (2018) Development of targeted siRNA nanocomplexes to prevent fibrosis in experimental glaucoma filtration surgery. Molecular Therapy , 26 (12) pp. 2812-2822. 10.1016/j.ymthe.2018.09.004.

Forsythe, E; Kenny, J; Bacchelli, C; Beales, PL; (2018) Managing Bardet-Biedl Syndrome-Now and in the Future. Frontiers in Pediatrics , 6 , Article 23. 10.3389/fped.2018.00023.

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Gagunashvili, AN; Andrésson, OS; (2018) Distinctive characters of Nostoc genomes in cyanolichens. BMC Genomics , 19 , Article 434. 10.1186/s12864-018-4743-5.

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Gambera, S; Abarrategi, A; Rodríguez-Milla, MA; Mulero, F; Menéndez, ST; Rodriguez, R; Navarro, S; Gambera, S; Abarrategi, A; Rodríguez-Milla, MA; Mulero, F; Menéndez, ST; Rodriguez, R; Navarro, S; García-Castro, J; - view fewer (2018) Role of Activator Protein-1 Complex on the Phenotype of Human Osteosarcomas Generated from Mesenchymal Stem Cells. Stem Cells , 36 (10) pp. 1487-1500. 10.1002/stem.2869.

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Hargreaves, I; Mody, N; Land, J; Heales, S; (2018) Blood Mononuclear Cell Mitochondrial Respiratory Chain Complex IV Activity Is Decreased in Multiple Sclerosis Patients: Effects of β-Interferon Treatment. Journal of Clinical Medicine , 7 (2) , Article 36. 10.3390/jcm7020036.

Harrison, P; Hart, S; (2018) Gene editing and gene regulation with CRISPR. Experimental Physiology , 103 (4) pp. 437-438. 10.1113/EP086864.

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Ip, HF; Jansen, R; Abdellaoui, A; Bartels, M; UK Brain Expression Consortium, .; Boomsma, DI; Nivard, MG; (2018) Characterizing the Relation Between Expression QTLs and Complex Traits: Exploring the Role of Tissue Specificity. Behavior Genetics , 48 (5) pp. 374-385. 10.1007/s10519-018-9914-2.

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T

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W

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Y

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