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Care4Rare and FORGE Canada
Care4Rare and FORGE Canada
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Zitiert von
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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
9012013
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
7072012
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
4182016
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
3062015
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
3002012
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
2782014
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
2512013
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
2452015
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
2442013
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
2432017
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
2252014
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
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
2242012
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
2182015
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
2162012
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
2072015
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
2072012
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
1952012
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
1812014
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
1802016
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