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Number of items: 142.

A

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.

B

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.

Biebermann, H; Kleinau, G; Schnabel, D; Bockenhauer, D; Wilson, LC; Tully, I; Kiff, S; ... Grüters, A; + view all Biebermann, H; Kleinau, G; Schnabel, D; Bockenhauer, D; Wilson, LC; Tully, I; Kiff, S; Scheerer, P; Reyes, M; Paisdzior, S; Gregory, JW; Allgrove, J; Krude, H; Mannstadt, M; Gardella, TJ; Dattani, M; Jüppner, H; Grüters, A; - view fewer (2019) A new multi-system disorder caused by the Gαs mutation p.F376V. The Journal of Clinical Endocrinology & Metabolism , 104 (4) pp. 1079-1089. 10.1210/jc.2018-01250.

Billingsley, KJ; Barbosa, IA; Bandrés-Ciga, S; Quinn, JP; Bubb, VJ; Deshpande, C; Botia, JA; ... Koks, S; + view all Billingsley, KJ; Barbosa, IA; Bandrés-Ciga, S; Quinn, JP; Bubb, VJ; Deshpande, C; Botia, JA; Reynolds, RH; Zhang, D; Simpson, MA; Blauwendraat, C; Gan-Or, Z; Gibbs, JR; Nalls, MA; Singleton, A; International Parkinson’s Disease Genomics Consortium (IPDGC); Ryten, M; Koks, S; - view fewer (2019) Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset. npj Parkinson's Disease , 5 , Article 8. 10.1038/s41531-019-0080-x.

Bolduc, V; Foley, AR; Solomon-Degefa, H; Sarathy, A; Donkervoort, S; Hu, Y; Chen, GS; ... Bönnemann, CG; + view all Bolduc, V; Foley, AR; Solomon-Degefa, H; Sarathy, A; Donkervoort, S; Hu, Y; Chen, GS; Sizov, K; Nalls, M; Zhou, H; Aguti, S; Cummings, BB; Lek, M; Tukiainen, T; Marshall, JL; Regev, O; Marek-Yagel, D; Sarkozy, A; Butterfield, RJ; Jou, C; Jimenez-Mallebrera, C; Li, Y; Gartioux, C; Mamchaoui, K; Allamand, V; Gualandi, F; Ferlini, A; Hanssen, E; COL6A1 Intron 11 Study Group; Wilton, SD; Lamandé, SR; MacArthur, DG; Wagener, R; Muntoni, F; Bönnemann, CG; - view fewer (2019) A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. JCI Insight , 4 (6) 10.1172/jci.insight.124403.

Bonham, LW; Steele, NZR; Karch, CM; Broce, I; Geier, EG; Wen, NL; Momeni, P; ... International FTD-Genomics Consortium (IFGC), .; + view all Bonham, LW; Steele, NZR; Karch, CM; Broce, I; Geier, EG; Wen, NL; Momeni, P; Hardy, J; Miller, ZA; Gorno-Tempini, ML; Hess, CP; Lewis, P; Miller, BL; Seeley, WW; Manzoni, C; Desikan, RS; Baranzini, SE; Ferrari, R; Yokoyama, JS; International FTD-Genomics Consortium (IFGC), .; - view fewer (2019) Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia. Scientific Reports , 9 , Article 10854. 10.1038/s41598-019-46415-1.

Brial, F; Le Lay, A; Hedjazi, L; Tsang, T; Fearnside, JF; Otto, GW; Alzaid, F; ... Gauguier, D; + view all Brial, F; Le Lay, A; Hedjazi, L; Tsang, T; Fearnside, JF; Otto, GW; Alzaid, F; Wilder, SP; Venteclef, N; Cazier, J-B; Nicholson, JK; Day, C; Burt, AD; Gut, IG; Lathrop, M; Dumas, M-E; Gauguier, D; - view fewer (2019) Systems Genetics of Hepatic Metabolome Reveals Octopamine as a Target for Non-Alcoholic Fatty Liver Disease Treatment. Scientific Reports , 9 , Article 3656. 10.1038/s41598-019-40153-0.

Brown, JR; Roy, S; Shah, D; Williams, CA; Williams, R; Dunn, H; Hartley, J; ... Breuer, J; + view all Brown, JR; Roy, S; Shah, D; Williams, CA; Williams, R; Dunn, H; Hartley, J; Harris, K; Breuer, J; - view fewer (2019) Norovirus transmission dynamics in a paediatric hospital using full genome sequences. Clinical Infectious Diseases , 68 (2) pp. 222-228. 10.1093/cid/ciy438.

Brown, L-AK; Ruis, C; Clark, I; Roy, S; Brown, JR; Albuquerque, AS; Patel, SY; ... Lowe, DM; + view all Brown, L-AK; Ruis, C; Clark, I; Roy, S; Brown, JR; Albuquerque, AS; Patel, SY; Miller, J; Karim, MY; Dervisevic, S; Moore, J; Williams, CA; Cudini, J; Moreira, F; Neild, P; Seneviratne, SL; Workman, S; Toumpanakis, C; Atkinson, C; Burns, SO; Breuer, J; Lowe, DM; - view fewer (2019) A comprehensive characterization of chronic norovirus infection in immunodeficient hosts. Journal of Allergy and Clinical Immunology 10.1016/j.jaci.2019.07.036. (In press).

Bugiardini, E; Pope, S; Feichtinger, RG; Poole, OV; Pittman, AM; Woodward, CE; Heales, S; ... Pitceathly, RDS; + view all Bugiardini, E; Pope, S; Feichtinger, RG; Poole, OV; Pittman, AM; Woodward, CE; Heales, S; Quinlivan, R; Houlden, H; Mayr, JA; Hanna, MG; Pitceathly, RDS; - view fewer (2019) Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases. Journal Of Clinical Medicine , 8 (7) , Article 991. 10.3390/jcm8070991.

Buonocore, F; Clifford-Mobley, O; King, TFJ; Striglioni, N; Man, E; Suntharalingham, JP; del Valle, I; ... Achermann, JC; + view all Buonocore, F; Clifford-Mobley, O; King, TFJ; Striglioni, N; Man, E; Suntharalingham, JP; del Valle, I; Lin, L; Lagos, CF; Rumsby, G; Conway, GS; Achermann, JC; - view fewer (2019) Next generation sequencing reveals novel genetic variants (SRY, DMRT1, NR5A1, DHH, DHX37) in adults with 46,XY DSD. Journal of the Endocrine Society 10.1210/js.2019-00306. (In press).

C

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.

Chandler, NJ; Ahlfors, H; Drury, S; Mellis, R; Hill, M; McKay, FJ; Collinson, C; ... Chitty, LS; + view all Chandler, NJ; Ahlfors, H; Drury, S; Mellis, R; Hill, M; McKay, FJ; Collinson, C; Hayward, J; Jenkins, L; Chitty, LS; - view fewer (2019) Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications. Clinical Chemistry , 65 (11) 10.1373/clinchem.2019.305011.

Chelban, V; Wilson, MP; Warman Chardon, J; Vandrovcova, J; Zanetti, MN; Zamba-Papanicolaou, E; Efthymiou, S; ... SYNaPS Study Group, .; + view all Chelban, V; Wilson, MP; Warman Chardon, J; Vandrovcova, J; Zanetti, MN; Zamba-Papanicolaou, E; Efthymiou, S; Pope, S; Conte, MR; Abis, G; Liu, Y-T; Tribollet, E; Haridy, NA; Botía, JA; Ryten, M; Nicolaou, P; Minaidou, A; Christodoulou, K; Kernohan, KD; Eaton, A; Osmond, M; Ito, Y; Bourque, P; Jepson, JEC; Bello, O; Bremner, F; Cordivari, C; Reilly, MM; Foiani, M; Heslegrave, A; Zetterberg, H; Heales, SJR; Wood, NW; Rothman, JE; Boycott, KM; Mills, PB; Clayton, PT; Houlden, H; Care4Rare Canada Consortium, .; SYNaPS Study Group, .; - view fewer (2019) PDXK mutations cause polyneuropathy responsive to PLP supplementation. Annals of Neurology 10.1002/ana.25524. (In press).

Chiesa, R; Standing, JF; Winter, R; Nademi, Z; Chu, J; Pinner, D; Kloprogge, F; ... Slatter, M; + view all Chiesa, R; Standing, JF; Winter, R; Nademi, Z; Chu, J; Pinner, D; Kloprogge, F; McLellen, S; Amrolia, PJ; Rao, K; Lucchini, G; Silva, J; Ciocarlie, O; Lazareva, A; Gennery, AR; Doncheva, B; Cant, AJ; Hambleton, S; Flood, T; Rogerson, E; Devine, K; Prunty, H; Heales, S; Veys, P; Slatter, M; - view fewer (2019) Proposed therapeutic range of treosulfan in reduced toxicity pediatric allogeneic hematopoietic stem cell transplant conditioning: results from a prospective trial. Clinical Pharmacology & Therapeutics 10.1002/cpt.1715. (In press).

Clayton, P; (2019) The effectiveness of correcting abnormal metabolic profiles. Journal of Inherited Metabolic Disease 10.1002/jimd.12139. (In press).

Crow, Y; Keshavan, N; Barbet, JP; Bercu, G; Bondet, V; Boussard, C; Dedieu, N; ... Rahman, S; + view all Crow, Y; Keshavan, N; Barbet, JP; Bercu, G; Bondet, V; Boussard, C; Dedieu, N; Duffy, D; Hully, M; Giardini, A; Gitiaux, C; Rice, GI; Seabra, L; Bader-Meunier, B; Rahman, S; - view fewer (2019) Cardiac valve involvement in ADAR-related type I interferonopathy. Journal of Medical Genetics 10.1136/jmedgenet-2019-106457. (In press).

Cudini, J; Roy, S; Houldcroft, CJ; Bryant, JM; Depledge, DP; Tutill, H; Veys, P; ... Breuer, J; + view all Cudini, J; Roy, S; Houldcroft, CJ; Bryant, JM; Depledge, DP; Tutill, H; Veys, P; Williams, R; Worth, AJJ; Tamuri, AU; Goldstein, RA; Breuer, J; - view fewer (2019) Human cytomegalovirus haplotype reconstruction reveals high diversity due to superinfection and evidence of within-host recombination. Proceedings of the National Academy of Sciences of the United States of America , 116 (12) pp. 5693-5698. 10.1073/pnas.1818130116.

D

Dastamani, A; Güemes, M; Pitfield, C; Morgan, K; Rajab, M; Rottenburger, C; Bomanji, J; ... Shah, P; + view all Dastamani, A; Güemes, M; Pitfield, C; Morgan, K; Rajab, M; Rottenburger, C; Bomanji, J; De Coppi, P; Dattani, M; Shah, P; - view fewer (2019) The Use of a Long-Acting Somatostatin Analogue (Lanreotide) in Three Children with Focal Forms of Congenital Hyperinsulinaemic Hypoglycaemia. Hormone Research in Paediatrics , 91 (1) pp. 56-61. 10.1159/000491101.

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.

Deans, ZC; Allen, S; Jenkins, L; Khawaja, F; Gutowska-Ding, W; Patton, SJ; Chitty, LS; Deans, ZC; Allen, S; Jenkins, L; Khawaja, F; Gutowska-Ding, W; Patton, SJ; Chitty, LS; Hastings, RJ; - view fewer (2019) Ensuring high standards for the delivery of NIPT world-wide: Development of an international external quality assessment scheme. Prenatal Diagnosis 10.1002/pd.5438. (In press).

Doykov, ID; Heywood, WE; Nikolaenko, V; Śpiewak, J; Hällqvist, J; Clayton, PT; Mills, P; ... Mills, K; + view all Doykov, ID; Heywood, WE; Nikolaenko, V; Śpiewak, J; Hällqvist, J; Clayton, PT; Mills, P; Warnock, DG; Nowak, A; Mills, K; - view fewer (2019) Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease. Journal of Medical Genetics 10.1136/jmedgenet-2019-106030. (In press).

Dufek, S; Cheshire, C; Levine, AP; Trompeter, RS; Issler, N; Stubbs, M; Mozere, M; ... Bockenhauer, D; + view all Dufek, S; Cheshire, C; Levine, AP; Trompeter, RS; Issler, N; Stubbs, M; Mozere, M; Gupta, S; Klootwijk, E; Patel, V; Hothi, D; Waters, A; Webb, H; Tullus, K; Jenkins, L; Godinho, L; Levtchenko, E; Wetzels, J; Knoers, N; Teeninga, N; Nauta, J; Shalaby, M; Edlesoky, S; Kari, JA; Thalgahagoda, S; Ranawaka, R; Abeyagunawardena, A; Adeyemo, A; Kristiansen, M; Gbadegesin, R; Webb, NJW; Gale, DP; Stanescu, HC; Kleta, R; Bockenhauer, D; - view fewer (2019) Genetic identification of two novel loci associated with steroid-sensitive nephrotic syndrome. Journal of the American Society of Nephrology , 30 (8) pp. 1375-1384. 10.1681/ASN.2018101054.

E

Efthymiou, S; Salpietro, V; Malintan, N; Poncelet, M; Kriouile, Y; Fortuna, S; De Zorzi, R; ... Houlden, H; + view all Efthymiou, S; Salpietro, V; Malintan, N; Poncelet, M; Kriouile, Y; Fortuna, S; De Zorzi, R; Payne, K; Henderson, LB; Cortese, A; Maddirevula, S; Alhashmi, N; Wiethoff, S; Ryten, M; Botia, JA; Provitera, V; Schuelke, M; Vandrovcova, J; SYNAPS Study Group; Walsh, L; Torti, E; Iodice, V; Najafi, M; Karimiani, EG; Maroofian, R; Siquier-Pernet, K; Boddaert, N; De Lonlay, P; Cantagrel, V; Aguennouz, M; El Khorassani, M; Schmidts, M; Alkuraya, FS; Edvardson, S; Nolano, M; Devaux, J; Houlden, H; - view fewer (2019) Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination. Brain 10.1093/brain/awz248. (In press).

F

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).

Fu Md, S; Thompson PhD, CL; Ali, A; Wang PhD, W; Chapple PhD, P; Mitchison Phd, HM; Beales, PL; ... Knight PhD, MM; + view all Fu Md, S; Thompson PhD, CL; Ali, A; Wang PhD, W; Chapple PhD, P; Mitchison Phd, HM; Beales, PL; Wann PhD, AK; Knight PhD, MM; - view fewer (2019) Mechanical loading inhibits cartilage inflammatory signalling via an HDAC6 and IFT-dependent mechanism regulating primary cilia elongation. Osteoarthritis Cartilage 10.1016/j.joca.2019.03.003. (In press).

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.

G

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).

Gorman, KM; Meyer, E; Grozeva, D; Spinelli, E; McTague, A; Sanchis-Juan, A; Carss, KJ; ... Kurian, MA; + view all Gorman, KM; Meyer, E; Grozeva, D; Spinelli, E; McTague, A; Sanchis-Juan, A; Carss, KJ; Bryant, E; Reich, A; Schneider, AL; Pressler, RM; Simpson, MA; Debelle, GD; Wassmer, E; Morton, J; Sieciechowicz, D; Jan-Kamsteeg, E; Paciorkowski, AR; King, MD; Cross, JH; Poduri, A; Mefford, HC; Scheffer, IE; Haack, TB; McCullagh, G; Millichap, JJ; Carvill, GL; Clayton-Smith, J; Maher, ER; Raymond, FL; Kurian, MA; - view fewer (2019) Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. American Journal of Human Genetics , 104 (5) pp. 948-956. 10.1016/j.ajhg.2019.03.005.

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 10.1016/j.ebiom.2019.03.013. (In press).

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.

H

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.

Hart, SL; Walker, AJ; (2019) New Genetic Approaches to Treating Diseases of the Skin. In: Hoeger, PH and Kinsler, V and Yan, AC and Harper, J and Oranje, AP and Bodemer, C and Larralde, M and luk, D and Mendiratta, V and Purvis, D, (eds.) Harper's Textbook of Pediatric Dermatology, 2 Volume Set. Wiley-Blackwell (In press).

Hart, SL; Walker, AJ; Harrison, PT; (2019) New genetic approaches to treating cystic fibrosis. In: Scherman, D, (ed.) Advanced Textbook on Gene Transfer, Gene Therapy and Genetic Pharmacology. World Scientific: London, UK.

Haworth, S; Shapland, CY; Hayward, C; Prins, BP; Felix, JF; Medina-Gomez, C; Rivadeneira, F; ... St Pourcain, B; + view all Haworth, S; Shapland, CY; Hayward, C; Prins, BP; Felix, JF; Medina-Gomez, C; Rivadeneira, F; Wang, C; Ahluwalia, TS; Vrijheid, M; Guxens, M; Sunyer, J; Tachmazidou, I; Walter, K; Iotchkova, V; Jackson, A; Cleal, L; Huffmann, J; Min, JL; Sass, L; Timmers, PRHJ; Al Turki, S; Anderson, CA; Anney, R; Antony, D; Artigas, MS; Ayub, M; Bala, S; Barrett, JC; Barroso, I; Beales, P; Bentham, J; Bhattacharya, S; Birney, E; Blackwood, D; Bobrow, M; Bochukova, E; Bolton, PF; Bounds, R; Boustred, C; Breen, G; Calissano, M; Carss, K; Charlton, R; Chatterjee, K; Chen, L; Ciampi, A; Cirak, S; Clapham, P; Clement, G; Coates, G; Cocca, M; Collier, DA; Cosgrove, C; Cox, T; Craddock, N; Crooks, L; Curran, S; Curtis, D; Daly, A; Danecek, P; Day, INM; Day-Williams, A; Dominiczak, A; Down, T; Du, Y; Dunham, I; Durbin, R; Edkins, S; Ekong, R; Ellis, P; Evans, DM; Farooqi, IS; Fitzpatrick, DR; Flicek, P; Floyd, J; Foley, AR; Franklin, CS; Futema, M; Gallagher, L; Gaunt, TR; Geihs, M; Geschwind, D; Greenwood, CMT; Griffin, H; Grozeva, D; Guo, X; Guo, X; Gurling, H; Hart, D; Hendricks, AE; Holmans, P; Howie, B; Huang, J; Huang, L; Hubbard, T; Humphries, SE; Hurles, ME; Hysi, P; Jackson, DK; Jamshidi, Y; Joyce, C; Karczewski, KJ; Kaye, J; Keane, T; Kemp, JP; Kennedy, K; Kent, A; Keogh, J; Khawaja, F; van Kogelenberg, M; Kolb-Kokocinski, A; Lachance, G; Langford, C; Lawson, D; Lee, I; Lek, M; Li, R; Li, Y; Liang, J; Lin, H; Liu, R; Lonnqvist, J; Lopes, LR; Lopes, M; MacArthur, DG; Mangino, M; Marchini, J; Marenne, G; Maslen, J; Mathieson, I; McCarthy, S; McGuffin, P; McIntosh, AM; McKechanie, AG; McQuillin, A; Memari, Y; Metrustry, S; Migone, N; Mitchison, HM; Moayyeri, A; Morris, A; Morris, J; Muddyman, D; Muntoni, F; Northstone, K; O'Donovan, MC; O'Rahilly, S; Onoufriadis, A; Oualkacha, K; Owen, MJ; Palotie, A; Panoutsopoulou, K; Parker, V; Parr, JR; Paternoster, L; Paunio, T; Payne, F; Payne, SJ; Perry, JRB; Pietilainen, O; Plagnol, V; Pollitt, RC; Porteous, DJ; Povey, S; Quail, MA; Quaye, L; Raymond, FL; Rehnstrom, K; Richards, JB; Ridout, CK; Ring, S; Ritchie, GRS; Roberts, N; Robinson, RL; Savage, DB; Scambler, P; Schiffels, S; Schmidts, M; Schoenmakers, N; Scott, RH; Semple, RK; Serra, E; Sharp, SI; Shaw, A; Shihab, HA; Shin, S-Y; Skuse, D; Small, KS; Smee, C; Smith, BH; Soranzo, N; Southam, L; Spasic-Boskovic, O; Spector, TD; St Clair, D; Stalker, J; Stevens, E; Sun, J; Surdulescu, G; Suvisaari, J; Syrris, P; Taylor, R; Tian, J; Tobin, MD; Valdes, AM; Vandersteen, AM; Vijayarangakannan, P; Visscher, PM; Wain, LV; Walters, JTR; Wang, G; Wang, J; Wang, Y; Ward, K; Wheeler, E; Whyte, T; Williams, HJ; Williamson, KA; Wilson, C; Wilson, SG; Wong, K; Xu, C; Yang, J; Zhang, F; Zhang, P; Zheng, H-F; Smith, GD; Fisher, SE; Wilson, JF; Cole, TJ; Fernandez-Orth, D; Bonnelykke, K; Bisgaard, H; Pennell, CE; Jaddoe, VWV; Dedoussis, G; Timpson, N; Zeggini, E; Vitart, V; St Pourcain, B; - view fewer (2019) Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. Nature Communications , 10 , Article 357. 10.1038/s41467-018-07863-x.

Heywood, W; Doykov, I; Spiewak, J; Hallqvist, J; Mills, K; Nowak, A; (2019) Global glycosphingolipid analysis in urine and plasma of female Fabry disease patients. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease , 1865 (10) pp. 2726-2735. 10.1016/j.bbadis.2019.07.005.

Hill, M; Lewis, C; Riddington, M; Crowe, B; DeVile, C; David, AL; Semler, O; ... Chitty, LS; + view all Hill, M; Lewis, C; Riddington, M; Crowe, B; DeVile, C; David, AL; Semler, O; Westgren, M; Götherström, C; Chitty, LS; - view fewer (2019) Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta. European Journal of Human Genetics 10.1038/s41431-019-0387-4. (In press).

Hill, M; Lewis, C; Riddington, M; Crowe, B; DeVile, C; Gotherstrom, C; Chitty, L; (2019) Exploring the impact of Osteogenesis Imperfecta on families: A mixed-methods systematic review. Disability and Health Journal , 12 (3) pp. 340-349. 10.1016/j.dhjo.2018.12.003.

Holthaus, S-MK; Herranz-Martin, S; Massaro, G; Aristorena, M; Hoke, J; Hughes, MP; Maswood, R; ... Ali, RR; + view all Holthaus, S-MK; Herranz-Martin, S; Massaro, G; Aristorena, M; Hoke, J; Hughes, MP; Maswood, R; Semenyuk, O; Basche, M; Shah, AZ; Klaska, IP; Smith, AJ; Mole, SE; Rahim, AA; Ali, RR; - view fewer (2019) Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease. Human Molecular Genetics , 28 (23) pp. 3867-3879. 10.1093/hmg/ddz210.

Hong, Y; Nanthapisal, S; Omoyinmi, E; Olbrich, P; Neth, O; Speckmann, C; Lucena, JM; ... Brogan, P; + view all Hong, Y; Nanthapisal, S; Omoyinmi, E; Olbrich, P; Neth, O; Speckmann, C; Lucena, JM; Gilmour, K; Worth, A; Genomics England Research Consortium; Klein, N; Eleftheriou, D; Brogan, P; - view fewer (2019) Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2. Frontiers in Immunology , 10 , Article 2589. 10.3389/fimmu.2019.02589.

Horga, A; Woodward, CE; Mills, A; Pareés, I; Hargreaves, IP; Brown, RM; Bugiardini, E; ... Hanna, MG; + view all Horga, A; Woodward, CE; Mills, A; Pareés, I; Hargreaves, IP; Brown, RM; Bugiardini, E; Brooks, T; Manole, A; Remzova, E; Rahman, S; Reilly, MM; Houlden, H; Sweeney, MG; Brown, GK; Polke, JM; Gago, F; Parton, MJ; Pitceathly, RDS; Hanna, MG; - view fewer (2019) Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair. Human Genetics 10.1007/s00439-019-02075-9. (In press).

Hughes, CD; Choi, ML; Ryten, M; Hopkins, L; Drews, A; Botía, JA; Iljina, M; ... Klenerman, D; + view all Hughes, CD; Choi, ML; Ryten, M; Hopkins, L; Drews, A; Botía, JA; Iljina, M; Rodrigues, M; Gagliano, SA; Gandhi, S; Bryant, C; Klenerman, D; - view fewer (2019) Picomolar concentrations of oligomeric alpha-synuclein sensitizes TLR4 to play an initiating role in Parkinson's disease pathogenesis. Acta Neuropathologica , 137 (1) pp. 103-120. 10.1007/s00401-018-1907-y.

Hutchinson, C; Shelmerdine, SC; Lewis, C; Parmenter, J; Simcock, IC; Ward, L; Ashworth, MT; ... Sebire, NJ; + view all Hutchinson, C; Shelmerdine, SC; Lewis, C; Parmenter, J; Simcock, IC; Ward, L; Ashworth, MT; Chitty, LS; Arthurs, OJ; Sebire, NJ; - view fewer (2019) Minimally invasive perinatal and pediatric autopsy with laparoscopically assisted tissue sampling: feasibility and experience of the MinImAL procedure. Ultrasound in Obstetrics & Gynecology , 54 (5) pp. 661-669. 10.1002/uog.20211.

I

Ivanova, R; Benton, DCH; Munye, MM; Rangseesorranan, S; Hart, SL; Moss, GWJ; (2019) A Nanosensor Toolbox for Rapid, Label-Free Measurement of Airway Surface Liquid and Epithelial Cell Function. ACS Applied Materials and Interfaces 10.1021/acsami.8b14122. (In press).

K

Keatley, K; Stromei-Cleroux, S; Wiltshire, T; Rajala, N; Burton, G; Holt, WV; Littlewood, DTJ; ... McGeehan, RE; + view all Keatley, K; Stromei-Cleroux, S; Wiltshire, T; Rajala, N; Burton, G; Holt, WV; Littlewood, DTJ; Briscoe, AG; Jung, J; Ashkan, K; Heales, SJ; Pilkington, GJ; Meunier, B; McGeehan, JE; Hargreaves, IP; McGeehan, RE; - view fewer (2019) Integrated Approach Reveals Role of Mitochondrial Germ-Line Mutation F18L in Respiratory Chain, Oxidative Alterations, Drug Sensitivity, and Patient Prognosis in Glioblastoma. MDPI — IJMS , 20 (13) , Article 3364. 10.3390/ijms20133364.

Kenny, Joanna; (2019) Genomics and Personalised Medicine: Diagnostics, Deep Phenotyping and Pharmacogenomics in Cohorts of Rare Disease Patients. Doctoral thesis (Ph.D), UCL (University College London).

Kiff, S; Babb, C; Guemes, M; Dastamani, A; Gilbert, C; Flanagan, SE; Ellard, S; ... Shah, P; + view all Kiff, S; Babb, C; Guemes, M; Dastamani, A; Gilbert, C; Flanagan, SE; Ellard, S; Barton, J; Dattani, M; Shah, P; - view fewer (2019) Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation. Endocrinology, Diabetes and Metabolism Case Reports , 2019 (1) 10.1530/EDM-18-0120.

Kittler, NW; Mathes, EF; Kinsler, V; Frieden, IJ; (2019) The biker-glove pattern of congenital melanocytic nevi. Pediatric Dermatology , 36 (6) pp. 918-921. 10.1111/pde.13939.

Kör, D; Şeker-Yılmaz, B; Bulut, FD; Kılavuz, S; Öktem, M; Ceylaner, S; Yıldızdaş, D; Kör, D; Şeker-Yılmaz, B; Bulut, FD; Kılavuz, S; Öktem, M; Ceylaner, S; Yıldızdaş, D; Önenli-Mungan, N; - view fewer (2019) Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations. The Turkish Journal of Pediatrics , 61 (3) pp. 330-336. 10.24953/turkjped.2019.03.003.

Krieger, TG; Moran, CM; Frangini, A; Visser, WE; Schoenmakers, E; Muntoni, F; Clark, CA; ... Livesey, FJ; + view all Krieger, TG; Moran, CM; Frangini, A; Visser, WE; Schoenmakers, E; Muntoni, F; Clark, CA; Gadian, D; Chong, WK; Kuczynski, A; Dattani, M; Lyons, G; Efthymiadou, A; Varga-Khadem, F; Simons, BD; Chatterjee, K; Livesey, FJ; - view fewer (2019) Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development. Proceedings of the National Academy of Sciences of the United States of America , 116 (45) pp. 22754-22763. 10.1073/pnas.1908762116.

L

Lambert, JRA; Howe, SJ; Rahim, AA; Burke, DG; Heales, SJR; (2019) Inhibition of Mitochondrial Complex I Impairs Release of α-Galactosidase by Jurkat Cells. International Journal of Molecular Sciences , 20 (18) , Article 4349. 10.3390/ijms20184349.

Lewis, C; Hutchinson, JC; Riddington, M; Hill, M; Arthurs, OJ; Fisher, J; Wade, A; ... Sebire, NJ; + view all Lewis, C; Hutchinson, JC; Riddington, M; Hill, M; Arthurs, OJ; Fisher, J; Wade, A; Doré, CJ; Chitty, LS; Sebire, NJ; - view fewer (2019) Minimally invasive autopsy for fetuses and children based on a combination of post-mortem MRI and endoscopic examination: a feasibility study. Health Technology Assessment , 23 (46) 10.3310/hta23460.

Lewis, C; Loe, BS; Sidey-Gibbons, C; Patch, C; Chitty, LS; Sanderson, SC; (2019) Development of a measure of genome sequencing knowledge for young people: The kids-KOGS. Clinical Genetics , 96 (5) pp. 411-417. 10.1111/cge.13607.

Lewis, C; Riddington, M; Hill, M; Arthurs, OJ; Hutchinson, JC; Chitty, LS; Bevan, C; ... Sebire, NJ; + view all Lewis, C; Riddington, M; Hill, M; Arthurs, OJ; Hutchinson, JC; Chitty, LS; Bevan, C; Fisher, J; Ward, J; Sebire, NJ; - view fewer (2019) Availability of less invasive prenatal, perinatal and paediatric autopsy will improve uptake rates: a mixed‐methods study with bereaved parents. BJOG: An International Journal of Obstetrics & Gynaecology , 126 (6) pp. 745-753. 10.1111/1471-0528.15591.

Lewis, C; Riddington, M; Hill, M; Bevan, C; Fisher, J; Lyas, L; Chalmers, A; ... Sebire, N; + view all Lewis, C; Riddington, M; Hill, M; Bevan, C; Fisher, J; Lyas, L; Chalmers, A; Arthurs, OJ; Hutchinson, JC; Chitty, LS; Sebire, N; - view fewer (2019) "The communication and support from the health professional is incredibly important": A qualitative study exploring the processes and practices that support parental decision-making about postmortem examination. Prenatal Diagnosis , 39 (13) pp. 1242-1253. 10.1002/pd.5575.

Little, D; Ketteler, R; Gissen, P; Devine, MJ; (2019) Using stem cell-derived neurons in drug screening for neurological diseases. Neurobiology of Aging , 78 pp. 130-141. 10.1016/j.neurobiolaging.2019.02.008.

Little, D; Luft, C; Mosaku, O; Ketteler, R; Devine, MJ; Gissen, P; (2019) High-Content Analysis of Mitochondrial Function in iPSC-Derived Neurons. Methods in Molecular Biology , 1994 pp. 175-184. 10.1007/978-1-4939-9477-9_16.

Little, D; Luft, C; Mosaku, O; Ketteler, R; Devine, MJ; Gissen, P; (2019) High-Content Autophagy Analysis in iPSC-Derived Neurons Using Immunofluorescence. Methods in Molecular Biology , 1994 pp. 165-174. 10.1007/978-1-4939-9477-9_15.

Little, D; Luft, C; Pezzini-Picart, O; Mosaku, O; Ketteler, R; Devine, MJ; Gissen, P; (2019) Seeding Induced Pluripotent Stem Cell-Derived Neurons onto 384-Well Plates. Methods in Molecular Biology , 1994 pp. 159-164. 10.1007/978-1-4939-9477-9_14.

Lord, J; McMullan, DJ; Eberhardt, RY; Rinck, G; Hamilton, SJ; Quinlan-Jones, E; Prigmore, E; ... Prenatal Assessment of Genomes and Exomes Consortium; + view all Lord, J; McMullan, DJ; Eberhardt, RY; Rinck, G; Hamilton, SJ; Quinlan-Jones, E; Prigmore, E; Keelagher, R; Best, SK; Carey, GK; Mellis, R; Robart, S; Berry, IR; Chandler, KE; Cilliers, D; Cresswell, L; Edwards, SL; Gardiner, C; Henderson, A; Holden, ST; Homfray, T; Lester, T; Lewis, RA; Newbury-Ecob, R; Prescott, K; Quarrell, OW; Ramsden, SC; Roberts, E; Tapon, D; Tooley, MJ; Vasudevan, PC; Weber, AP; Wellesley, DG; Westwood, P; White, H; Parker, M; Williams, D; Jenkins, L; Scott, RH; Kilby, MD; Chitty, LS; Hurles, ME; Maher, ER; Prenatal Assessment of Genomes and Exomes Consortium; - view fewer (2019) Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. The Lancet , 393 (10173) pp. 747-757. 10.1016/S0140-6736(18)31940-8.

M

Maekawa, M; Jinnoh, I; Matsumoto, Y; Narita, A; Mashima, R; Takahashi, H; Iwahori, A; ... Mano, N; + view all Maekawa, M; Jinnoh, I; Matsumoto, Y; Narita, A; Mashima, R; Takahashi, H; Iwahori, A; Saigusa, D; Fujii, K; Abe, A; Higaki, K; Yamauchi, S; Ozeki, Y; Shimoda, K; Tomioka, Y; Okuyama, T; Eto, Y; Ohno, K; T Clayton, P; Yamaguchi, H; Mano, N; - view fewer (2019) Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann–Pick Disease Type C. International Journal of Molecular Sciences , 20 (20) , Article 5018. 10.3390/ijms20205018.

Maekawa, M; Jinnoh, I; Narita, A; Iida, T; Saigusa, D; Iwahori, A; Nittono, H; ... Mano, N; + view all Maekawa, M; Jinnoh, I; Narita, A; Iida, T; Saigusa, D; Iwahori, A; Nittono, H; Okuyama, T; Eto, Y; Ohno, K; Clayton, PT; Yamaguchi, H; Mano, N; - view fewer (2019) Development of a simultaneous analytical method for five conjugated cholesterol metabolites in urine and investigation of their performance as diagnostic markers for Niemann-Pick disease type C. Journal of Lipid Research 10.1194/jlr.M093971. (In press).

Maekawa, M; Narita, A; Jinnoh, I; Iida, T; Marquardt, T; Mengel, E; Eto, Y; ... Mano, N; + view all Maekawa, M; Narita, A; Jinnoh, I; Iida, T; Marquardt, T; Mengel, E; Eto, Y; Clayton, PT; Yamaguchi, H; Mano, N; - view fewer (2019) Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann-Pick disease type C. Clinica Chimica Acta , 494 pp. 58-63. 10.1016/j.cca.2019.03.1610.

Maharaj, A; Buonocore, F; Meimaridou, E; Ruiz-Babot, G; Guasti, L; Peng, H-M; Capper, CP; ... Metherell, LA; + view all Maharaj, A; Buonocore, F; Meimaridou, E; Ruiz-Babot, G; Guasti, L; Peng, H-M; Capper, CP; Burgos-Tirado, N; Prasad, R; Hughes, CR; Maudhoo, A; Crowne, E; Cheetham, TD; Brain, CE; Suntharalingham, JP; Striglioni, N; Yuksel, B; Gurbuz, F; Gupta, S; Lindsay, R; Couch, R; Spoudeas, HA; Guran, T; Johnson, S; Fowler, DJ; Conwell, LS; McInerney-Leo, AM; Drui, D; Cariou, B; Lopez-Siguero, JP; Harris, M; Duncan, EL; Hindmarsh, PC; Auchus, RJ; Donaldson, MD; Achermann, JC; Metherell, LA; - view fewer (2019) Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing. Journal of the Endocrine Society , 3 (1) pp. 201-221. 10.1210/js.2018-00130.

Maldonado, EM; Taha, F; Rahman, J; Rahman, S; (2019) Systems Biology Approaches Toward Understanding Primary Mitochondrial Diseases. Frontiers in Genetics , 10 , Article 19. 10.3389/fgene.2019.00019.

Mazzacuva, F; Lorvellec, M; Cilibrizzi, A; Mills, K; Clayton, P; Gissen, P; (2019) Measurement of Bile Acids as a Marker of the Functionality of iPSC-Derived Hepatocytes. Cell-Based Assays Using iPSCs for Drug Development and Testing , 1994 pp. 141-147. 10.1007/978-1-4939-9477-9_12.

Mazzacuva, F; Lorvellec, M; Cilibrizzi, A; Mills, K; Heywood, WE; Clayton, P; Gissen, P; (2019) Mass Spectrometry Measurement of Albumin-Alpha Fetoprotein Ratio as an Indicator of iPSC-Derived Hepatocyte Differentiation. Cell-Based Assays Using iPSCs for Drug Development and Testing , 1994 pp. 149-156. 10.1007/978-1-4939-9477-9_13.

McElreavey, K; Jorgensen, A; Eozenou, C; Merel, T; Bignon-Topalovic, J; Tan, DS; Houzelstein, D; ... Bashamboo, A; + view all McElreavey, K; Jorgensen, A; Eozenou, C; Merel, T; Bignon-Topalovic, J; Tan, DS; Houzelstein, D; Buonocore, F; Warr, N; Kay, RGG; Peycelon, M; Siffroi, J-P; Mazen, I; Achermann, JC; Shcherbak, Y; Leger, J; Sallai, A; Carel, J-C; Martinerie, L; Le Ru, R; Conway, GS; Mignot, B; Van Maldergem, L; Bertalan, R; Globa, E; Brauner, R; Jauch, R; Nef, S; Greenfield, A; Bashamboo, A; - view fewer (2019) Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. Genetics in Medicine 10.1038/s41436-019-0606-y. (In press).

Mills, PB; Clayton, P; Wilson, M; Plecko, B; (2019) Disorders affecting vitamin B₆ metabolism. Journal of Inherited Metabolic Disease , 42 (4) pp. 629-646. 10.1002/jimd.12060.

Minikel, EV; Vallabh, SM; Orseth, MC; Brandel, J-P; Haïk, S; Laplanche, J-L; Zerr, I; ... Mead, S; + view all Minikel, EV; Vallabh, SM; Orseth, MC; Brandel, J-P; Haïk, S; Laplanche, J-L; Zerr, I; Parchi, P; Capellari, S; Safar, J; Kenny, J; Fong, JC; Takada, LT; Ponto, C; Hermann, P; Knipper, T; Stehmann, C; Kitamoto, T; Ae, R; Hamaguchi, T; Sanjo, N; Tsukamoto, T; Mizusawa, H; Collins, SJ; Chiesa, R; Roiter, I; de Pedro-Cuesta, J; Calero, M; Geschwind, MD; Yamada, M; Nakamura, Y; Mead, S; - view fewer (2019) Age at onset in genetic prion disease and the design of preventive clinical trials. Neurology , 93 (2) e125-e134. 10.1212/WNL.0000000000007745.

Mitchison, H; (2019) Clinical utility of NGS diagnosis and disease stratification in a multi-ethnic primary ciliary dyskinesia cohort. Journal of Medical Genetics 10.1136/jmedgenet-2019-106501. (In press).

Mohammadi, A; Kudsiova, L; Mustapa, MFM; Campbell, F; Vlaho, D; Welser, K; Story, H; ... Hailes, HC; + view all Mohammadi, A; Kudsiova, L; Mustapa, MFM; Campbell, F; Vlaho, D; Welser, K; Story, H; Tagalakis, AD; Hart, SL; Barlow, DJ; Tabor, AB; Lawrence, MJ; Hailes, HC; - view fewer (2019) The discovery and enhanced properties of trichain lipids in lipopolyplex gene delivery systems. Organic and Biomolecular Chemistry 10.1039/c8ob02374c.

Mole, SE; Anderson, G; Band, HA; Berkovic, SF; Cooper, JD; Kleine Holthaus, S-M; McKay, TR; ... Smith, AJ; + view all Mole, SE; Anderson, G; Band, HA; Berkovic, SF; Cooper, JD; Kleine Holthaus, S-M; McKay, TR; Medina, DL; Rahim, AA; Schulz, A; Smith, AJ; - view fewer (2019) Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. [Review]. Lancet Neurology , 18 (1) pp. 107-116. 10.1016/S1474-4422(18)30368-5.

N

Nalls, MA; Blauwendraat, C; Vallerga, CL; Heilbron, K; Bandres-Ciga, S; Chang, D; Tan, M; ... Guerreiro, R; + view all Nalls, MA; Blauwendraat, C; Vallerga, CL; Heilbron, K; Bandres-Ciga, S; Chang, D; Tan, M; Kia, DA; Noyce, AJ; Xue, A; Bras, J; Young, E; von Coelln, R; Simón-Sánchez, J; Schulte, C; Sharma, M; Krohn, L; Pihlstrøm, L; Siitonen, A; Iwaki, H; Leonard, H; Faghri, F; Gibbs, JR; Hernandez, DG; Scholz, SW; Botia, JA; Martinez, M; Corvol, JC; Lesage, S; Jankovic, J; Shulman, LM; Sutherland, M; Tienari, P; Majamaa, K; Toft, M; Andreassen, OA; Bangale, T; Brice, A; Yang, J; Gan-Or, Z; Gasser, T; Heutink, P; Shulman, JM; Wood, NW; Hinds, DA; Hardy, JA; Morris, HR; Gratten, J; Visscher, PM; Graham, RR; Singleton, AB; Adarmes-Gómez, AD; Aguilar, M; Aitkulova, A; Akhmetzhanov, V; Alcalay, RN; Alvarez, I; Alvarez, V; Barrero, FJ; Bergareche Yarza, JA; Bernal-Bernal, I; Billingsley, K; Blazquez, M; Bonilla-Toribio, M; Botía, JA; Boungiorno, MT; Brockmann, K; Bubb, V; Buiza-Rueda, D; Cámara, A; Carrillo, F; Carrión-Claro, M; Cerdan, D; Chelban, V; Clarimón, J; Clarke, C; Compta, Y; Cookson, MR; Craig, DW; Danjou, F; Diez-Fairen, M; Dols-Icardo, O; Duarte, J; Duran, R; Escamilla-Sevilla, F; Escott-Price, V; Ezquerra, M; Feliz, C; Fernández, M; Fernández-Santiago, R; Finkbeiner, S; Foltynie, T; Garcia, C; García-Ruiz, P; Gomez Heredia, MJ; Gómez-Garre, P; González, MM; Gonzalez-Aramburu, I; Guelfi, S; Guerreiro, R; - view fewer (2019) Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies. The Lancet Neurology , 18 (12) pp. 1091-1102. 10.1016/S1474-4422(19)30320-5.

Ng, X; Sadeghian, M; Heales, S; Hargreaves, IP; (2019) Assessment of Mitochondrial Dysfunction in Experimental Autoimmune Encephalomyelitis (EAE) Models of Multiple Sclerosis. International Journal of Molecular Sciences , 20 (20) , Article 4975. 10.3390/ijms20204975.

P

Parikh, S; Karaa, A; Goldstein, A; Bertini, ES; Chinnery, PF; Christodoulou, J; Cohen, BH; ... Rahman, S; + view all Parikh, S; Karaa, A; Goldstein, A; Bertini, ES; Chinnery, PF; Christodoulou, J; Cohen, BH; Davis, RL; Falk, MJ; Fratter, C; Horvath, R; Koenig, MK; Mancuso, M; McCormack, S; McCormick, EM; McFarland, R; Nesbitt, V; Schiff, M; Steele, H; Stockler, S; Sue, C; Tarnopolsky, M; Thorburn, DR; Vockley, J; Rahman, S; - view fewer (2019) Diagnosis of 'possible' mitochondrial disease: an existential crisis. Journal of Medical Genetics , 56 (3) pp. 123-130. 10.1136/jmedgenet-2018-105800.

Pereira, BI; Devine, OP; Vukmanovic-Stejic, M; Chambers, ES; Subramanian, P; Patel, N; Virasami, A; ... Akbar, AN; + view all Pereira, BI; Devine, OP; Vukmanovic-Stejic, M; Chambers, ES; Subramanian, P; Patel, N; Virasami, A; Sebire, NJ; Kinsler, V; Valdovinos, A; LeSaux, CJ; Passos, JF; Antoniou, A; Rustin, MHA; Campisi, J; Akbar, AN; - view fewer (2019) Senescent cells evade immune clearance via HLA-E-mediated NK and CD8^{+} T cell inhibition. Nature Communications , 10 (1) , Article 2387. 10.1038/s41467-019-10335-5.

Perocheau, D; Cunningham, S; Lee, J; Antinao Diaz, J; Waddington, SN; Gilmour, K; Eaglestone, S; ... Baruteau, J; + view all Perocheau, D; Cunningham, S; Lee, J; Antinao Diaz, J; Waddington, SN; Gilmour, K; Eaglestone, S; Lisowski, L; Thrasher, AJ; Alexander, IE; Gissen, P; Baruteau, J; - view fewer (2019) Age-Related Seroprevalence of Antibodies Against AAV-LK03 in a UK Population Cohort. Human Gene Therapy , 30 (1) pp. 79-87. 10.1089/hum.2018.098.

Perretta Tejedor, N; Seda, M; Jenkins, D; Ronco, P; Woolf, AS; Winyard, P; Long, DA; (2019) Vascular endothelial growth factor-C (VEGF-C) reduces cystogenesis in a human cellular model of polycystic kidney disease generated by CRISPR technology. Presented at: UK Kidney Week 2019, Brighton, UK.

Peters, MJ; Williams, HJ; (2019) Information Is the Resolution of Uncertainty: Whole Genome Approaches to Genetic Diagnosis on the PICU. [Editorial comment]. Pediatric Critical Care Medicine , 20 (11) pp. 1087-1088. 10.1097/PCC.0000000000002091.

Polubothu, S; McGuire, N; Al-Olabi, L; Baird, W; Bulstrode, N; Chalker, J; Josifova, D; ... Kinsler, VA; + view all Polubothu, S; McGuire, N; Al-Olabi, L; Baird, W; Bulstrode, N; Chalker, J; Josifova, D; Lomas, D; O'Hara, J; Ong, J; Rampling, D; Stadnik, P; Thomas, A; Wedgeworth, E; Sebire, NJ; Kinsler, VA; - view fewer (2019) Does the gene matter? Genotype-phenotype and genotype-outcome associations in congenital melanocytic naevi. British Journal of Dermatology 10.1111/bjd.18106. (In press).

Pope, S; Artuch, R; Heales, S; Rahman, S; (2019) Cerebral folate deficiency: Analytical tests and differential diagnosis. Journal of Inherited Metabolic Disease , 42 (4) pp. 655-672. 10.1002/jimd.12092.

R

Rahman, J; Rahman, S; (2019) The utility of phenomics in diagnosis of inherited metabolic disorders. Clinical Medicine , 19 (1) pp. 30-36. 10.7861/clinmedicine.19-1-30.

Rahman, S; (2019) Advances in the treatment of mitochondrial epilepsies. Epilepsy & Behavior , 101 , Article 106546. 10.1016/j.yebeh.2019.106546.

Rahman, S; Baumgartner, M; (2019) B Vitamins: Small molecules, big effects. [Editorial comment]. Journal of Inherited Metabolic Disease , 42 (4) pp. 579-580. 10.1002/jimd.12127.

Ramos, M; Cortés, JCG; Sato, M; Rincón, SA; Moreno, MB; Clemente-Ramos, JÁ; Osumi, M; ... Ribas, JC; + view all Ramos, M; Cortés, JCG; Sato, M; Rincón, SA; Moreno, MB; Clemente-Ramos, JÁ; Osumi, M; Pérez, P; Ribas, JC; - view fewer (2019) Two S. pombe septation phases differ in ingression rate, septum structure, and response to F-actin loss. Journal of Cell Biology , 218 (12) pp. 4171-4194. 10.1083/jcb.201808163.

Reynolds, RH; Botía, J; Nalls, MA; International Parkinson’s Disease Genomics Consortium (IPDGC), .; System Genomics of Parkinson’s Disease (SGPD), .; Hardy, J; Gagliano Taliun, SA; Reynolds, RH; Botía, J; Nalls, MA; International Parkinson’s Disease Genomics Consortium (IPDGC), .; System Genomics of Parkinson’s Disease (SGPD), .; Hardy, J; Gagliano Taliun, SA; Ryten, M; - view fewer (2019) Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability. NPJ Parkinson's Disease , 5 , Article 6. 10.1038/s41531-019-0076-6.

Reynolds, RH; Hardy, J; Ryten, M; Gagliano Taliun, SA; (2019) Informing disease modelling with brain-relevant functional genomic annotations. Brain 10.1093/brain/awz295. (In press).

Riachi, M; Bas, F; Darendeliler, F; Hussain, K; (2019) A novel 3' untranslated region mutation in the SLC29A3 gene associated with pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus syndrome. Pediatric Diabetes , 20 (4) pp. 474-481. 10.1111/pedi.12839.

Riachi, M; Yilmaz, S; Kurnaz, E; Aycan, Z; Çetinkaya, S; Tranebjærg, L; Rendtorff, ND; ... Hussain, K; + view all Riachi, M; Yilmaz, S; Kurnaz, E; Aycan, Z; Çetinkaya, S; Tranebjærg, L; Rendtorff, ND; Bitner-Glindzicz, M; Bockenhauer, D; Hussain, K; - view fewer (2019) Functional Assessment of Variants Associated with Wolfram Syndrome. Human Molecular Genetics , 28 (22) pp. 3815-3824. 10.1093/hmg/ddz212.

Roy, S; Hartley, J; Dunn, H; Williams, R; Williams, CA; Breuer, J; (2019) Whole-genome Sequencing Provides Data for Stratifying Infection Prevention and Control Management of Nosocomial Influenza A. Clinical Infectious Diseases 10.1093/cid/ciz020. (In press).

S

Salih, DA; Bayram, S; Guelfi, S; Reynolds, RH; Shoai, M; Ryten, M; Brenton, J; ... Hardy, J; + view all Salih, DA; Bayram, S; Guelfi, S; Reynolds, RH; Shoai, M; Ryten, M; Brenton, J; Zhang, D; Matarin, M; Botia, JA; Shah, R; Brookes, KJ; Guetta-Baranes, T; Morgan, K; Bellou, E; Cummings, DM; Escott-Price, V; Hardy, J; - view fewer (2019) Genetic variability in response to amyloid beta deposition influences Alzheimer's disease risk. Brain Communications 10.1093/braincomms/fcz022. (In press).

Sanderson, SC; Hill, M; Patch, C; Searle, B; Lewis, C; Chitty, LS; (2019) Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 Genomes Project. BMJ Open , 9 (11) , Article e029699. 10.1136/bmjopen-2019-029699.

Saoura, M; Powell, CA; Kopajtich, R; Alahmad, A; Al-Balool, HH; Albash, B; Alfadhel, M; ... Minczuk, M; + view all Saoura, M; Powell, CA; Kopajtich, R; Alahmad, A; Al-Balool, HH; Albash, B; Alfadhel, M; Alston, CL; Bertini, E; Bonnen, P; Bratkovic, D; Carrozzo, R; Donati, MA; Nottia, MD; Ghezzi, D; Goldstein, A; Haan, E; Horvath, R; Hughes, J; Invernizzi, F; Lamantea, E; Lucas, B; Pinnock, K-G; Pujantell, M; Rahman, S; Rebelo-Guiomar, P; Santra, S; Verrigni, D; McFarland, R; Prokisch, H; Taylor, RW; Levinger, L; Minczuk, M; - view fewer (2019) Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. Human Mutation , 40 (10) pp. 1731-1748. 10.1002/humu.23777.

Schmidt, JM; de Manuel, M; Marques-Bonet, T; Castellano, S; Andrés, AM; (2019) The impact of genetic adaptation on chimpanzee subspecies differentiation. PLoS Genetics , 15 (11) , Article e1008485. 10.1371/journal.pgen.1008485. (In press).

Seda, M; Geerlings, M; Lim, P; Jayabalan-Srikaran, J; Cichon, A-C; Scambler, PJ; Beales, PL; ... Jenkins, D; + view all Seda, M; Geerlings, M; Lim, P; Jayabalan-Srikaran, J; Cichon, A-C; Scambler, PJ; Beales, PL; Hernandez-Hernandez, V; Stoker, AW; Jenkins, D; - view fewer (2019) An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis. Molecuar Syndromology , 10 (1-2) 10.1159/000491567. (In press).

Seda, M; Peskett, E; Demetriou, C; Bryant, D; Moore, G; Stanier, P; Jenkins, D; (2019) Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages. Child Health Open Research , 8 , Article 273. 10.12688/f1000research.17314.1.

Seselgyte, R; Bryant, D; Demetriou, C; Ishida, M; Peskett, E; Moreno, N; Morrogh, D; ... Stanier, P; + view all Seselgyte, R; Bryant, D; Demetriou, C; Ishida, M; Peskett, E; Moreno, N; Morrogh, D; Sell, D; Lees, M; Farrall, M; Moore, GE; Sommerlad, B; Pauws, E; Stanier, P; - view fewer (2019) Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family. Journal of Dental Research , 98 (6) pp. 659-665. 10.1177/0022034519837245.

Shelmerdine, SC; Arthurs, OJ; Gilpin, I; Norman, W; Jones, R; Taylor, AM; Sebire, NJ; Shelmerdine, SC; Arthurs, OJ; Gilpin, I; Norman, W; Jones, R; Taylor, AM; Sebire, NJ; Chitty, LS; - view fewer (2019) Is traditional perinatal autopsy needed after detailed fetal ultrasound and post-mortem MRI? Prenatal Diagnosis , 39 (9) pp. 818-829. 10.1002/pd.5448.

Sironen, A; Shoemark, A; Patel, M; Loebinger, MR; Mitchison, HM; (2019) Sperm defects in primary ciliary dyskinesia and related causes of male infertility. Cellular and Molecular Life Sciences 10.1007/s00018-019-03389-7. (In press).

Sliepka, JM; McGriff, SC; Rossetti, LZ; Bizargity, P; Streff, H; Lee, Y-S; Dai, H; ... Marafi, D; + view all Sliepka, JM; McGriff, SC; Rossetti, LZ; Bizargity, P; Streff, H; Lee, Y-S; Dai, H; Polubothu, S; Lee, G; Ren, V; Hunter, J; Curry, DJ; Scaglia, F; Adesina, AM; Ali, I; Kinsler, V; Burrage, LC; Marafi, D; - view fewer (2019) GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis. Neurology Genetics , 5 (6) , Article e366. 10.1212/NXG.0000000000000366.

Smets, F; Dobbelaere, D; McKiernan, P; Dionisi-Vici, C; Broue, P; Jacquemin, E; Lopes, AI; ... Sokal, E; + view all Smets, F; Dobbelaere, D; McKiernan, P; Dionisi-Vici, C; Broue, P; Jacquemin, E; Lopes, AI; Goncalves, I; Mandel, H; Pawlowska, J; Kaminska, D; Shteyer, E; Torre, G; Shapiro, R; Eyskens, F; Clapuyt, P; Gissen, P; Pariente, D; Grunewald, S; Yudkoff, M; Binda, MM; Najimi, M; Belmonte, N; de Vos, B; Thonnard, J; Sokal, E; - view fewer (2019) Phase I/II Trial of Liver-derived Mesenchymal Stem Cells in Pediatric Liver-based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Heterologous Human Adult Liver-derived Progenitor Cells (HepaStem) in Urea Cycle Disorders and Crigler-Najjar Syndrome Patients. Transplantation , 103 (9) pp. 1903-1915. 10.1097/TP.0000000000002605.

Suntharalingham, JP; Ishida, M; Buonocore, F; del Valle, I; Solanky, N; Demetriou, C; Regan, L; ... Achermann, JC; + view all Suntharalingham, JP; Ishida, M; Buonocore, F; del Valle, I; Solanky, N; Demetriou, C; Regan, L; Moore, GE; Achermann, JC; - view fewer (2019) Analysis of CDKN1C in fetal growth restriction and pregnancy loss. F1000Research , 8 , Article 90. 10.12688/f1000research.15016.1.

Swarup, V; Hinz, FI; Rexach, JE; Noguchi, K-I; Toyoshiba, H; Oda, A; Hirai, K; ... Geschwind, DH; + view all Swarup, V; Hinz, FI; Rexach, JE; Noguchi, K-I; Toyoshiba, H; Oda, A; Hirai, K; Sarkar, A; Seyfried, NT; Cheng, C; Haggarty, SJ; Ferrari, R; Rohrer, JD; Ramasamy, A; Hardy, J; Hernandez, DG; Nalls, MA; Singleton, AB; Kwok, JBJ; Dobson-Stone, C; Brooks, WS; Schofield, PR; Halliday, GM; Hodges, JR; Piguet, O; Bartley, L; Thompson, E; Haan, E; Hernandez, I; Ruiz, A; Boada, M; Borroni, B; Padovani, A; Cairns, NJ; Cruchaga, C; Binetti, G; Ghidoni, R; Benussi, L; Forloni, G; Albani, D; Galimberti, D; Fenoglio, C; Serpente, M; Scarpini, E; Clarimon, J; Lleo, A; Blesa, R; Waldo, ML; Nilsson, K; Nilsson, C; Mackenzie, IRA; Hsiung, G-YR; Mann, DMA; Grafman, J; Morris, CM; Attems, J; Griffiths, TD; McKeith, IG; Thomas, AJ; Jaros, E; Pietrini, P; Huey, ED; Wassermann, EM; Tierney, MC; Baborie, A; Pastor, P; Ortega-Cubero, S; Razquin, C; Alonso, E; Perneczky, R; Diehl-Schmid, J; Alexopoulos, P; Kurz, A; Rainero, I; Rubino, E; Pinessi, L; Rogaeva, E; St George-Hyslop, P; Rossi, G; Tagliavini, F; Giaccone, G; Rowe, JB; Schlachetzki, JCM; Uphill, J; Collinge, J; Mead, S; Danek, A; Van Deerlin, VM; Grossman, M; Trojanowski, JQ; Pickering-Brown, S; Momeni, P; van der Zee, J; Cruts, M; Van Broeckhoven, C; Cappa, SF; Leber, I; Brice, A; Hannequin, D; Golfier, V; Vercelletto, M; Nacmias, B; Sorbi, S; Bagnoli, S; Piaceri, I; Nielsen, JE; Hjermind, LE; Riemenschneider, M; Mayhaus, M; Gasparoni, G; Pichler, S; Ibach, B; Rossor, MN; Fox, NC; Warren, JD; Spillantini, MG; Morris, HR; Rizzu, P; Heutink, P; Snowden, JS; Rollinson, S; Gerhard, A; Richardson, A; Bruni, AC; Maletta, R; Frangipane, F; Cupidi, C; Bernardi, L; Anfossi, M; Gallo, M; Conidi, ME; Smirne, N; Rademakers, R; Baker, M; Dickson, DW; Graff-Radford, NR; Petersen, RC; Knopman, D; Josephs, KA; Boeve, BF; Parisi, JE; Miller, BL; Karydas, AM; Rosen, H; Seeley, WW; van Swieten, JC; Dopper, EGP; Seelaar, H; Pijnenburg, YAL; Scheltens, P; Logroscino, G; Capozzo, R; Novelli, V; Puca, AA; Franceschi, M; Postiglione, A; Milan, G; Sorrentino, P; Kristiansen, M; Chiang, H-H; Graff, C; Pasquier, F; Rollin, A; Deramecourt, V; Lebouvier, T; Ferrucci, L; Kapogiannis, D; Grossman, M; Van Deerlin, VM; Trojanowski, JQ; Lah, JJ; Levey, AI; Kondou, S; Geschwind, DH; - view fewer (2019) Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia. Nature Medicine , 25 (1) pp. 152-164. 10.1038/s41591-018-0223-3.

T

Tahoun, M; Chandler, JC; Ashton, E; Haston, S; Hannan, A; Kim, JS; D'Arco, F; ... Waters, AM; + view all Tahoun, M; Chandler, JC; Ashton, E; Haston, S; Hannan, A; Kim, JS; D'Arco, F; Bockenhauer, D; Anderson, G; Lin, M-H; Marzouk, S; Saied, MH; Miner, JH; Dattani, M; Waters, AM; - view fewer (2019) 'Mutations in LAMB2 associate with albuminuria and Optic Nerve Hypoplasia with Hypopituitarism'. The Journal of Clinical Endrocrinology & Metabolism , 105 (3) pp. 595-599. 10.1210/clinem/dgz216.

V

Vabres, P; Sorlin, A; Kholmanskikh, SS; Demeer, B; St-Onge, J; Duffourd, Y; Kuentz, P; ... Riviere, J-B; + view all Vabres, P; Sorlin, A; Kholmanskikh, SS; Demeer, B; St-Onge, J; Duffourd, Y; Kuentz, P; Courcet, J-B; Carmignac, V; Garret, P; Bessis, D; Boute, O; Bron, A; Captier, G; Carmi, E; Devauchelle, B; Genevieve, D; Gondry-Jouet, C; Guibaud, L; Lafon, A; Mathieu-Dramard, M; Thevenon, J; Dobyns, WB; Bernard, G; Polubothu, S; Faravelli, F; Kinsler, VA; Thauvin, C; Faivre, L; Ross, ME; Riviere, J-B; - view fewer (2019) Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nature Genetics , 51 pp. 1438-1441. 10.1038/s41588-019-0498-4.

Vadgama, N; Pittman, A; Simpson, M; Nirmalananthan, N; Murray, R; Yoshikawa, T; De Rijk, P; ... Nasir, J; + view all Vadgama, N; Pittman, A; Simpson, M; Nirmalananthan, N; Murray, R; Yoshikawa, T; De Rijk, P; Rees, E; Kirov, G; Hughes, D; Fitzgerald, T; Kristiansen, M; Pearce, K; Cerveira, E; Zhu, Q; Zhang, C; Lee, C; Hardy, J; Nasir, J; - view fewer (2019) De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes. European Journal of Human Genetics , 27 (7) pp. 1121-1133. 10.1038/s41431-019-0376-7.

Van Dam, TJP; Kennedy, J; Van der Lee, R; De Vrieze, E; Wunderlich, KA; Rix, S; Dougherty, GW; ... Huynen, MA; + view all Van Dam, TJP; Kennedy, J; Van der Lee, R; De Vrieze, E; Wunderlich, KA; Rix, S; Dougherty, GW; Lambacher, NJ; Li, C; Jensen, VL; Leroux, MR; Hjeij, R; Horn, N; Texier, Y; Wissinger, Y; Van Reeuwijk, J; Wheway, G; Knapp, B; Scheel, JF; Franco, B; Mans, DA; Van Wijk, E; Képès, F; Slaats, GG; Toedt, G; Kremer, H; Omran, H; Szymanska, K; Koutroumpas, K; Ueffing, M; Nguyen, T-MT; Letteboer, SJF; Oud, MM; Van Beersum, SEC; Schmidts, M; Beales, PL; Lu, Q; Giles, RH; Szklarczyk, R; Russell, RB; Gibson, TJ; Johnson, CA; Blacque, OE; Wolfrum, U; Boldt, K; Roepman, R; Hernandez-Hernandez, V; Huynen, MA; - view fewer (2019) CiliaCarta: An integrated and validated compendium of ciliary genes. PLOS ONE , 14 (5) , Article e0216705. 10.1371/journal.pone.0216705.

W

Walker, Amy; (2019) Delivery of CRISPR/Cas9 by receptor-targeted nanoparticles as a corrective therapy for Cystic Fibrosis. Doctoral thesis (Ph.D), UCL (University College London).

Wallmeier, J; Frank, D; Shoemark, A; Nöthe-Menchen, T; Cindric, S; Olbrich, H; Loges, NT; ... Omran, H; + view all Wallmeier, J; Frank, D; Shoemark, A; Nöthe-Menchen, T; Cindric, S; Olbrich, H; Loges, NT; Aprea, I; Dougherty, GW; Pennekamp, P; Kaiser, T; Mitchison, HM; Hogg, C; Carr, SB; Zariwala, MA; Ferkol, T; Leigh, MW; Davis, SD; Atkinson, J; Dutcher, SK; Knowles, MR; Thiele, H; Altmüller, J; Krenz, H; Wöste, M; Brentrup, A; Ahrens, F; Vogelberg, C; Morris-Rosendahl, DJ; Omran, H; - view fewer (2019) De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. American Journal of Human Genetics , 105 (5) pp. 1030-1039. 10.1016/j.ajhg.2019.09.022.

Walton, E; Hibar, D; Yilmaz, Z; Jahanshad, N; Cheung, J; Batury, V-L; Seitz, J; ... Bulik, CM; + view all Walton, E; Hibar, D; Yilmaz, Z; Jahanshad, N; Cheung, J; Batury, V-L; Seitz, J; Bulik, CM; Thompson, PM; Ehrlich, S; Hibar, DP; Stein, JL; Renteria, ME; Arias-Vasquez, A; Desrivieres, S; Jahanshad, N; Toro, R; Wittfeld, K; Abramovic, L; Andersson, M; Aribisala, BS; Armstrong, NJ; Bernard, M; Bohlken, MM; Boks, MP; Bralten, J; Brown, AA; Chakravarty, MM; Chen, Q; Ching, CRK; Cuellar-Partida, G; Den Braber, A; Giddaluru, S; Goldman, AL; Grimm, O; Guadalupe, T; Hass, J; Woldehawariat, G; Holmes, AJ; Hoogman, M; Janowitz, D; Jia, T; Kim, S; Klein, M; Kraemer, B; Lee, PH; Loohuis, LMO; Luciano, M; Macare, C; Mather, KA; Mattheisen, M; Milaneschi, Y; Nho, K; Papmeyer, M; Ramasamy, A; Risacher, SL; Roiz-Santianez, R; Rose, EJ; Salami, A; Samann, PG; Schmaal, L; Schork, AJ; Shin, J; Strike, LT; Teumer, A; van Donkelaar, MMJ; van Eijk, KR; Walters, RK; Westlye, LT; Whelan, CD; Winkler, AM; Zwiers, MP; Alhusaini, S; Athanasiu, L; Ehrlich, S; Hakobjan, MMH; Hartberg, CB; Haukvik, UK; Heister, AJGAM; Hohn, D; Kasperaviciute, D; Liewald, DCM; Lopez, LM; Makkinje, RRR; Matarin, M; Naber, MAM; Mckay, DR; Needham, M; Nugent, AC; Putz, B; Shen, L; Sprooten, E; Trabzuni, D; van der Marel, SSL; van Hulzen, KJE; Walton, E; Wolf, C; Almasy, L; Ames, D; Arepalli, S; Assareh, AA; Bastin, ME; Brodaty, H; Bulayeva, KB; Carless, MA; Cichon, S; Corvin, A; Curran, JE; Czisch, M; de Zubicaray, GI; Dillman, A; Duggirala, R; Dyer, TD; Erk, S; Fedko, IO; Ferrucci, L; Foroud, TM; Fox, PT; Fukunaga, M; Gibbs, JR; Goring, HHH; Green, RC; Guelfi, S; Hansell, NK; Hartman, CA; Hegenscheid, K; Heinz, A; Hernandez, DG; Heslenfeld, DJ; Hoekstra, PJ; Holsboer, F; Homuth, G; Hottenga, J-J; Ikeda, M; Jack, CR; Jenkinson, M; Johnson, R; Kanai, R; Keil, M; Kent, JW; Kochunov, P; Kwok, JB; Lawrie, SM; Liu, X; Longo, DL; McMahon, KL; Meisenzahl, E; Melle, I; Mohnke, S; Montgomery, GW; Mostert, JC; Muhleisen, TW; Nalls, MA; Nichols, TE; Nilsson, LG; Nothen, MM; Ohi, K; Olvera, RL; Perez-Iglesias, R; Pike, GB; Potkin, SG; Reinvang, I; Reppermund, S; Rietschel, M; Romanczuk-Seiferth, N; Rosen, GD; Rujescu, D; Schnell, K; Schofield, PR; Smith, C; Steen, VM; Sussmann, JE; Thalamuthu, A; Toga, AW; Traynor, BJ; Troncoso, J; Turner, JA; Hernandez, MCV; van't Ent, D; van der Brug, M; van der Wee, NJA; van Tol, M-J; Veltman, DJ; Wassink, TH; Westman, E; Zielke, RH; Zonderman, AB; Ashbrook, DG; Hager, R; Lu, L; McMahon, FJ; Morris, DW; Williams, RW; Brunner, HG; Buckner, RL; Buitelaar, JK; Cahn, W; Calhoun, VD; Cavalleri, GL; Crespo-Facorro, B; Dale, AM; Davies, GE; Delanty, N; Depondt, C; Djurovic, S; Drevets, WC; Espeseth, T; Gollub, RL; Ho, B-C; Hoffmann, W; Hosten, N; Kahn, RS; Le Hellard, S; Meyer-Lindenberg, A; Mueller-Myhsok, B; Nauck, M; Nyberg, L; Pandolfo, M; Penninx, BWJH; Roffman, JL; Sisodiya, SM; Smoller, JW; van Bokhoven, H; van Haren, NEM; Volzke, H; Walter, H; Weiner, MW; Wen, W; White, T; Agartz, I; Andreassen, OA; Blangero, J; Boomsma, DI; Brouwer, RM; Cannon, DM; Cookson, MR; de Geus, EJC; Deary, IJ; Donohoe, G; Fernandez, G; Fisher, SE; Francks, C; Glahn, DC; Grabe, HJ; Gruber, O; Hardy, J; Hashimoto, R; Pol, HEH; Jonsson, EG; Kloszewska, I; Lovestone, S; Mattay, VS; Mecocci, P; McDonald, C; McIntosh, AM; Ophoff, RA; Paus, T; Pausova, Z; Ryten, M; Sachdev, PS; Saykin, AJ; Simmons, A; Singleton, A; Soininen, H; Wardlaw, JM; Weale, ME; Weinberger, DR; Adams, HHH; Launer, LJ; Seiler, S; Schmidt, R; Chauhan, G; Satizabal, CL; Becker, JT; Yanek, LR; van der Lee, SJ; Ebling, M; Fischl, B; Longstreth, WT; Greve, D; Schmidt, H; Nyquist, P; Vinke, LN; van Duijn, CM; Xue, L; Mazoyer, B; Bis, JC; Gudnason, V; Seshadri, S; Ikram, MA; Martin, NG; Wright, MJ; Schumann, G; Franke, B; Thompson, PM; Medland, SE; Duncan, L; Yilmaz, Z; Walters, R; Goldstein, J; Anttila, V; Bulik-Sullivan, B; Ripke, S; Adan, R; Alfredsson, L; Ando, T; Andreassen, O; Aschauer, H; Baker, J; Barrett, J; Bencko, V; Bergen, A; Berrettini, W; Birgegard, A; Boni, C; Perica, VB; Brandt, H; Burghardt, R; Carlberg, L; Cassina, M; Cichon, CCS; Clementi, M; Cohen-Woods, S; Coleman, J; Cone, R; Courtet, P; Crawford, S; Crow, S; Crowley, J; Danner, U; Davis, O; de Zwaan, M; Dedoussis, G; Degortes, D; DeSocio, J; Dick, D; Dikeos, D; Dina, C; Ding, B; Dmitrzak-Weglarz, M; Docampo, E; Egberts, K; Ehrlich, S; Escaramis, G; Esko, T; Espeseth, T; Estivill, X; Favaro, A; Fernandez-Aranda, F; Fichter, M; Finan, C; Fischer, K; Floyd, J; Focker, M; Foretova, L; Forzan, M; Fox, C; Franklin, C; Gallinger, VGS; Gambaro, G; Gaspar, H; Giegling, I; Gonidakis, F; Gorwood, P; Gratacos, M; Guillaume, S; Guo, Y; Hakonarson, H; Halmi, K; Harrison, R; Hatzikotoulas, K; Hauser, J; Hebebrand, J; Helder, S; Hendriks, J; Herms, S; Herpertz-Dahlmann, B; Herzog, W; Hilliard, C; Huckins, L; Hudson, J; Huemer, J; Imgart, H; Inoko, H; Jamain, SJS; Janout, V; Jimenez-Murcia, S; Johnson, C; Jordan, J; Julia, A; Jureus, A; Kalsi, G; Kaplan, A; Kaprio, J; Karhunen, L; Karwautz, A; Kas, M; Kaye, W; Kennedy, M; Kennedy, J; Keski-Rahkonen, A; Kiezebrink, K; Kim, Y-R; Klareskog, L; Klump, K; Knudsen, GP; Koeleman, B; Koubek, D; La Via, M; Landen, M; Le Hellard, S; Leboyer, M; Levitan, R; Li, D; Lichtenstein, P; Lilenfeld, L; Lissowska, J; Lundervold, A; Magistretti, P; Maj, M; Mannik, K; Marsal, S; Kaminska, D; Martin, N; Mattingsdal, M; McDevitt, S; McGuffin, P; Merl, E; Metspalu, A; Meulenbelt, I; Micali, N; Mitchell, J; Mitchell, K; Monteleone, P; Monteleone, AM; Montgomery, G; Mortensen, P; Munn-Chernoff, M; Mueller, T; Nacmias, B; Navratilova, M; Nilsson, I; Norring, C; Ntalla, I; Ophoff, R; O'Toole, J; Palotie, A; Pantel, J; Papezova, H; Pinto, RPD; Rabionet, R; Raevuori, A; Rajewski, A; Ramoz, N; Rayner, NW; Reichborn-Kjennerud, T; Ricca, V; Ripatti, S; Ritschel, F; Roberts, M; Rotondo, A; Rujescu, D; Rybakowski, F; Santonastaso, P; Scherag, A; Scherer, S; Schmidt, U; Schork, N; Schosser, A; Scott, L; Seitz, J; Slachtova, L; Sladek, R; Slagboom, PE; Slof-Op't Landt, M; Slopien, A; Smith, T; Soranzo, N; Sorbi, S; Southam, L; Steen, V; Strengman, E; Strober, M; Szatkiewicz, J; Szeszenia-Dabrowska, N; Tachmazidou, I; Tenconi, E; Tortorella, A; Tozzi, F; Treasure, J; Tschop, M; Tsitsika, A; Tziouvas, K; van Elburg, A; van Furth, E; Wade, T; Wagner, G; Walton, E; Watson, H; Wichmann, H-E; Widen, E; Woodside, DB; Yanovski, J; Yao, S; Zerwas, S; Zipfel, S; Thornton, L; Hinney, A; Breen, G; Bulik, CM; - view fewer (2019) Exploration of Shared Genetic Architecture Between Subcortical Brain Volumes and Anorexia Nervosa. Molecular Neurobiology , 56 (7) pp. 5146-5156. 10.1007/s12035-018-1439-4.

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.

Y

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.

This list was generated on Mon Oct 14 03:11:41 2024 BST.