| Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia HX Deng, W Chen, ST Hong, KM Boycott, GH Gorrie, N Siddique, Y Yang, ... Nature 477 (7363), 211-215, 2011 | 1472 | 2011 |
| Rare-disease genetics in the era of next-generation sequencing: discovery to translation KM Boycott, MR Vanstone, DE Bulman, AE MacKenzie Nature Reviews Genetics 14 (10), 681-691, 2013 | 949 | 2013 |
| De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes JB Rivière, GM Mirzaa, BJ O'Roak, M Beddaoui, D Alcantara, RL Conway, ... Nature genetics 44 (8), 934-940, 2012 | 768 | 2012 |
| Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11. 23 cause incomplete X-linked congenital stationary night blindness NT Bech-Hansen, MJ Naylor, TA Maybaum, WG Pearce, B Koop, ... Nature genetics 19 (3), 264-267, 1998 | 662 | 1998 |
| The human phenotype ontology in 2017 S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ... Nucleic acids research 45 (D1), D865-D876, 2017 | 651 | 2017 |
| The Matchmaker Exchange: a platform for rare disease gene discovery AA Philippakis, DR Azzariti, S Beltran, AJ Brookes, CA Brownstein, ... Human mutation 36 (10), 915-921, 2015 | 524 | 2015 |
| 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 | 454 | 2016 |
| International cooperation to enable the diagnosis of all rare genetic diseases KM Boycott, A Rath, JX Chong, T Hartley, FS Alkuraya, G Baynam, ... The American Journal of Human Genetics 100 (5), 695-705, 2017 | 444 | 2017 |
| The human phenotype ontology in 2017 S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ... | 377 | 2017 |
| Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies V Bolduc, G Marlow, KM Boycott, K Saleki, H Inoue, J Kroon, M Itakura, ... The American Journal of Human Genetics 86 (2), 213-221, 2010 | 338 | 2010 |
| Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts L Frésard, C Smail, NM Ferraro, NA Teran, X Li, KS Smith, D Bonner, ... Nature medicine 25 (6), 911-919, 2019 | 320 | 2019 |
| 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 | 318 | 2012 |
| Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype SL Sawyer, L Tian, M Kähkönen, J Schwartzentruber, M Kircher, ... Cancer discovery 5 (2), 135-142, 2015 | 316 | 2015 |
| SLC39A8 deficiency: a disorder of manganese transport and glycosylation JH Park, M Hogrebe, M Grüneberg, I DuChesne, AL von der Heiden, ... The American Journal of Human Genetics 97 (6), 894-903, 2015 | 310 | 2015 |
| FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project CL Beaulieu, J Majewski, J Schwartzentruber, ME Samuels, ... The American Journal of Human Genetics 94 (6), 809-817, 2014 | 288 | 2014 |
| XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia NC Hoch, H Hanzlikova, SL Rulten, M Tétreault, E Komulainen, L Ju, ... Nature 541 (7635), 87-91, 2017 | 270 | 2017 |
| An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ... Nature cell biology 17 (8), 1074-1087, 2015 | 270 | 2015 |
| P heno t ips: Patient phenotyping software for clinical and research use M Girdea, S Dumitriu, M Fiume, S Bowdin, KM Boycott, S Chénier, ... Human mutation 34 (8), 1057-1065, 2013 | 256 | 2013 |
| Future of rare diseases research 2017–2027: an IRDiRC perspective CP Austin, CM Cutillo, LPL Lau, AH Jonker, A Rath, D Julkowska, ... Clinical and translational science 11 (1), 21, 2017 | 246 | 2017 |
| Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification KM Boycott, S Flavelle, A Bureau, HC Glass, TM Fujiwara, E Wirrell, ... The American Journal of Human Genetics 77 (3), 477-483, 2005 | 241 | 2005 |
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