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 | 929 | 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 | 734 | 2012 |
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 | 435 | 2016 |
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 | 314 | 2015 |
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 | 313 | 2012 |
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 | 281 | 2014 |
Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency MH Berryer, FF Hamdan, LL Klitten, RS Møller, L Carmant, ... Human mutation 34 (2), 385-394, 2013 | 268 | 2013 |
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 | 258 | 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 | 256 | 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 | 249 | 2013 |
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway GM Enns, V Shashi, M Bainbridge, MJ Gambello, FR Zahir, T Bast, ... Genetics in Medicine 16 (10), 751-758, 2014 | 235 | 2014 |
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 | 231 | 2011 |
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome FP Bernier, O Caluseriu, S Ng, J Schwartzentruber, KJ Buckingham, ... The American Journal of Human Genetics 90 (5), 925-933, 2012 | 229 | 2012 |
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 | 226 | 2012 |
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 | 225 | 2015 |
Autosomal-recessive intellectual disability with cerebellar atrophy syndrome caused by mutation of the manganese and zinc transporter gene SLC39A8 KM Boycott, CL Beaulieu, KD Kernohan, OH Gebril, A Mhanni, ... The American Journal of Human Genetics 97 (6), 886-893, 2015 | 217 | 2015 |
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration RK Koenekoop, H Wang, J Majewski, X Wang, I Lopez, H Ren, Y Chen, ... Nature genetics 44 (9), 1035-1039, 2012 | 210 | 2012 |
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 | 197 | 2012 |
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome MK Demos, CDM van Karnebeek, CJD Ross, S Adam, Y Shen, SH Zhan, ... Orphanet journal of rare diseases 9, 1-9, 2014 | 189 | 2014 |
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy A Brodehl, RA Ferrier, SJ Hamilton, SC Greenway, MA Brundler, W Yu, ... Human mutation 37 (3), 269-279, 2016 | 184 | 2016 |