| Partial leptin deficiency and human adiposity IS Farooqi, JM Keogh, S Kamath, S Jones, WT Gibson, R Trussell, ... Nature 414 (6859), 34-35, 2001 | 514 | 2001 |
| Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care SL Sawyer, T Hartley, DA Dyment, CL Beaulieu, J Schwartzentruber, ... Clinical genetics 89 (3), 275-284, 2016 | 418 | 2016 |
| Congenital leptin deficiency due to homozygosity for the Δ133G mutation: report of another case and evaluation of response to four years of leptin therapy WT Gibson, IS Farooqi, M Moreau, AM DePaoli, E Lawrence, S O’Rahilly, ... The Journal of Clinical Endocrinology & Metabolism 89 (10), 4821-4826, 2004 | 382 | 2004 |
| Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation JM Friedman, Á Baross, AD Delaney, A Ally, L Arbour, J Asano, DK Bailey, ... The American Journal of Human Genetics 79 (3), 500-513, 2006 | 358 | 2006 |
| Mutations in EZH2 cause Weaver syndrome WT Gibson, RL Hood, SH Zhan, DE Bulman, AP Fejes, R Moore, ... The American Journal of Human Genetics 90 (1), 110-118, 2012 | 300 | 2012 |
| A systematic review of genetic syndromes with obesity Y Kaur, RJ De Souza, WT Gibson, D Meyre Obesity Reviews 18 (6), 603-634, 2017 | 197 | 2017 |
| NSD1 mutations generate a genome-wide DNA methylation signature S Choufani, C Cytrynbaum, BHY Chung, AL Turinsky, D Grafodatskaya, ... Nature communications 6 (1), 10207, 2015 | 189 | 2015 |
| Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor S Mardy, Y Miura, F Endo, I Matsuda, L Sztriha, P Frossard, A Moosa, ... The American Journal of Human Genetics 64 (6), 1570-1579, 1999 | 183 | 1999 |
| Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy. SJ Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W ... Human Mutation 37 (3), 269-279, 2016 | 180 | 2016 |
| Body weight is modulated by levels of full-length huntingtin JM Van Raamsdonk, WT Gibson, J Pearson, Z Murphy, G Lu, BR Leavitt, ... Human molecular genetics 15 (9), 1513-1523, 2006 | 142 | 2006 |
| Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype I Filges, E Nosova, E Bruder, S Tercanli, K Townsend, WT Gibson, ... Clinical genetics 86 (3), 220-228, 2014 | 121 | 2014 |
| Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. SR Lehman A, Thouta S, Mancini GMS, Naidu S, van Slegtenhorst M, McWalter K ... Am J Hum Genet 101 (1), 65-74, 2017 | 108 | 2017 |
| Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism H Daoud, M Tétreault, W Gibson, K Guerrero, A Cohen, ... Journal of medical genetics 50 (3), 194-197, 2013 | 102 | 2013 |
| Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada CM Armour, SD Dougan, JA Brock, R Chari, BN Chodirker, I DeBie, ... Journal of medical genetics 55 (4), 215-221, 2018 | 101 | 2018 |
| Susceptibility to multiple sclerosis is associated with the proximal immunoglobulin heavy chain variable region. MA Walter, WT Gibson, GC Ebers, DW Cox The Journal of clinical investigation 87 (4), 1266-1273, 1991 | 100 | 1991 |
| Novel deletions of 14q11. 2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children F Zahir, HV Firth, A Baross, AD Delaney, P Eydoux, WT Gibson, ... Journal of medical genetics 44 (9), 556-561, 2007 | 97 | 2007 |
| CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language L Snijders Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, ... Nature communications 9 (1), 4619, 2018 | 96 | 2018 |
| Identification of rare de novo epigenetic variations in congenital disorders M Barbosa, RS Joshi, P Garg, A Martin-Trujillo, N Patel, B Jadhav, ... Nature communications 9 (1), 2064, 2018 | 88 | 2018 |
| A novel mutation in EED associated with overgrowth ASA Cohen, B Tuysuz, Y Shen, SK Bhalla, SJM Jones, WT Gibson Journal of human genetics 60 (6), 339-342, 2015 | 84 | 2015 |
| Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. SSJ Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R ... American Journal of Human Genetics 70 (6), 1520-1531, 2002 | 81 | 2002 |
