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Kym Boycott
Kym Boycott
Professor of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa
Adresse e-mail validée de cheo.on.ca
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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
13702011
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
8952013
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
7912017
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
7062012
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
6521998
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
4822015
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
4172016
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
3742017
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
3272010
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
3072015
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
2972012
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
2782015
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
2772014
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
2592019
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
2442015
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
2422017
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
2422013
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
2352005
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
2252011
The clinical application of genome-wide sequencing for monogenic diseases in Canada: position statement of the Canadian College of Medical Geneticists
K Boycott, T Hartley, S Adam, F Bernier, K Chong, BA Fernandez, ...
Journal of Medical Genetics 52 (7), 431-437, 2015
2172015
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