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 | 710 | 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 | 418 | 2016 |
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 | 280 | 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 | 278 | 2014 |
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 | 246 | 2015 |
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 | 226 | 2011 |
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 | 217 | 2012 |
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 | 207 | 2015 |
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 | 195 | 2012 |
Mutations in PIK3R1 cause SHORT syndrome DA Dyment, AC Smith, D Alcantara, JA Schwartzentruber, ... The American Journal of Human Genetics 93 (1), 158-166, 2013 | 178 | 2013 |
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases OJ Buske, M Girdea, S Dumitriu, B Gallinger, T Hartley, H Trang, ... Human mutation 36 (10), 931-940, 2015 | 139 | 2015 |
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome LM McDonell, GM Mirzaa, D Alcantara, J Schwartzentruber, MT Carter, ... Nature genetics 45 (5), 556-562, 2013 | 115 | 2013 |
Exome sequencing as a diagnostic tool for pediatric‐onset ataxia SL Sawyer, J Schwartzentruber, CL Beaulieu, D Dyment, A Smith, ... Human mutation 35 (1), 45-49, 2014 | 109 | 2014 |
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing TB Balci, T Hartley, Y Xi, DA Dyment, CL Beaulieu, FP Bernier, L Dupuis, ... Clinical genetics 92 (3), 281-289, 2017 | 108 | 2017 |
Whole‐exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study DA Dyment, M Tetreault, CL Beaulieu, T Hartley, P Ferreira, JW Chardon, ... Clinical genetics 88 (1), 34-40, 2015 | 108 | 2015 |
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit H Daoud, SM Luco, R Li, E Bareke, C Beaulieu, O Jarinova, N Carson, ... Cmaj 188 (11), E254-E260, 2016 | 107 | 2016 |
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP SM Nikkel, A Dauber, S De Munnik, M Connolly, RL Hood, O Caluseriu, ... Orphanet journal of rare diseases 8, 1-9, 2013 | 82 | 2013 |
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia AC Smith, AJ Mears, R Bunker, A Ahmed, M MacKenzie, ... Journal of medical genetics 51 (7), 470-474, 2014 | 81 | 2014 |
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional … HJ McMillan, T Worthylake, J Schwartzentruber, CC Gottlieb, ... Orphanet journal of rare diseases 7, 1-9, 2012 | 76 | 2012 |
Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia With Mental Retardation (Dysequilibrium Syndrome) KM Boycott, C Bonnemann, J Herz, S Neuert, C Beaulieu, JN Scott, ... Journal of child neurology 24 (10), 1310-1315, 2009 | 70 | 2009 |