Kym Boycott
Kym Boycott
Professor of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa
Verified email at cheo.on.ca
Title
Cited by
Cited by
Year
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
9422011
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
5882013
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, 1998
5361998
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, 2012
4792012
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
4602017
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
2482015
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
2352010
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
2152016
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
2112015
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
2062005
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
1872012
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
1862014
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
L Huang, K Szymanska, VL Jensen, AR Janecke, AM Innes, EE Davis, ...
The American Journal of Human Genetics 89 (6), 713-730, 2011
1642011
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
1582013
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia
VE Kimonis, SG Mehta, EC Fulchiero, D Thomasova, M Pasquali, ...
American journal of medical genetics Part A 146 (6), 745-757, 2008
1432008
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly
MA Lines, L Huang, J Schwartzentruber, SL Douglas, DC Lynch, ...
The American Journal of Human Genetics 90 (2), 369-377, 2012
1332012
SLC39A8 deficiency: a disorder of manganese transport and glycosylation
JH Park, M Hogrebe, M Grüneberg, I DuChesne, L Ava, J Reunert, ...
The American Journal of Human Genetics 97 (6), 894-903, 2015
1322015
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
1262017
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
RL Hood, MA Lines, SM Nikkel, J Schwartzentruber, C Beaulieu, ...
The American Journal of Human Genetics 90 (2), 308-313, 2012
1232012
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
1192015
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