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Megan Vanstone
Megan Vanstone
Saskatchewan Cancer Agency
Verified email at saskcancer.ca
Title
Cited by
Cited by
Year
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
8952013
International cooperation to enable the diagnosis of all rare genetic diseases
KM Boycott, A Rath, JX Chong, T Hartley, FS Alkuraya, G Baynam, ...
The American Journal of Human Genetics 100 (5), 695-705, 2017
3742017
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
1762013
A recurrent PDGFRB mutation causes familial infantile myofibromatosis
YH Cheung, T Gayden, PM Campeau, CA LeDuc, D Russo, VH Nguyen, ...
The American Journal of Human Genetics 92 (6), 996-1000, 2013
1572013
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
GM Mirzaa, DA Parry, AE Fry, KA Giamanco, J Schwartzentruber, ...
Nature genetics 46 (5), 510-515, 2014
1422014
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases
K Choquet, M Tétreault, S Yang, R La Piana, MJ Dicaire, MR Vanstone, ...
European Journal of Human Genetics 24 (7), 1016-1021, 2016
672016
Mandibulofacial dysostosis with microcephaly: mutation and database update
L Huang, MR Vanstone, T Hartley, M Osmond, N Barrowman, J Allanson, ...
Human mutation 37 (2), 148-154, 2016
612016
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
532014
Identification of genes for childhood heritable diseases
KM Boycott, DA Dyment, SL Sawyer, MR Vanstone, CL Beaulieu
Annual review of medicine 65, 19-31, 2014
412014
Neuropathologic features of pontocerebellar hypoplasia type 6
JT Joseph, AM Innes, AC Smith, MR Vanstone, JA Schwartzentruber, ...
Journal of Neuropathology & Experimental Neurology 73 (11), 1009-1025, 2014
322014
Phosphatase complex Pph3/Psy2 is involved in regulation of efficient non-homologous end-joining pathway in the yeast Saccharomyces cerevisiae
K Omidi, M Hooshyar, M Jessulat, B Samanfar, M Sanders, D Burnside, ...
PloS one 9 (1), e87248, 2014
262014
Uncharacterized ORF HUR1 influences the efficiency of non-homologous end-joining repair in Saccharomyces cerevisiae
K Omidi, M Jessulat, M Hooshyar, D Burnside, A Schoenrock, ...
Gene 639, 128-136, 2018
232018
Boycott KM, Pilz DT, Ross ME, Dobyns WB, Sheridan EG. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly …
GM Mirzaa, DA Parry, AE Fry, KA Giamanco, J Schwartzentruber, ...
Nat Genet 46, 510-515, 2014
112014
Identification, Validation and Characterization of the Mutation on Chromosome 18p which is Responsible for Causing Myoclonus-Dystonia
M Vanstone
University of Ottawa (Canada), 2012
12012
De novo mutations in CCND2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
A Fry, GM Mirzaa, DA Parry, KA Giamanco, J Schwartzentrüber, ...
Proceedings, 2014
2014
Stabilizing de novo cyclin D2 mutations suggest a unifying mechanism in PI3K-AKT associated megalencephaly syndromes
DA Parry, KA Giamanco, G Mirzaa, CV Logan, J Schwartzentruber, AE Fry, ...
Prodeedings, 2014
2014
To identify, validate, and characterize the mutation on 18p that is responsible for causing myoclonus dystonia
M Vanstone, DA Grimes, D Bulman
GENOME 55 (10), 723-723, 2012
2012
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Articles 1–17