Chandree L Beaulieu
Chandree L Beaulieu
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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, 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
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
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
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
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
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 PIK3R1 cause SHORT syndrome
DA Dyment, AC Smith, D Alcantara, JA Schwartzentruber, ...
The American Journal of Human Genetics 93 (1), 158-166, 2013
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
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
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
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
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, 2013
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
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), 90, 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
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), 63, 2013
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
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy
DA Dyment, E Sell, MR Vanstone, AC Smith, D Garandeau, V Garcia, ...
Clinical genetics 86 (6), 558-563, 2014
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