Care4Rare and FORGE Canada
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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
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
JB Rivičre, GM Mirzaa, BJ O'Roak, M Beddaoui, D Alcantara, RL Conway, ...
Nature genetics 44 (8), 934, 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
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
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
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
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
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
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
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, 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
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
Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency
MH Berryer, FF Hamdan, LL Klitten, RS Mřller, L Carmant, ...
Human mutation 34 (2), 385-394, 2013
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
Mutations in DDHD2, encoding an intracellular phospholipase A1, cause a recessive form of complex hereditary spastic paraplegia
JHM Schuurs-Hoeijmakers, MT Geraghty, EJ Kamsteeg, S Ben-Salem, ...
The American Journal of Human Genetics 91 (6), 1073-1081, 2012
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
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
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation
D Moshous, E Martin, W Carpentier, A Lim, I Callebaut, D Canioni, ...
Journal of allergy and clinical immunology 131 (6), 1594-1603. e9, 2013
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked …
FJ Kaiser, M Ansari, D Braunholz, M Concepción Gil-Rodríguez, ...
Human molecular genetics 23 (11), 2888-2900, 2014
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
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