| 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 | 950 | 2013 |
| 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 | 440 | 2017 |
| 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 | 188 | 2013 |
| 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 | 171 | 2013 |
| 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 | 150 | 2014 |
| 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 | 72 | 2016 |
| 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 | 65 | 2016 |
| 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 | 57 | 2014 |
| Identification of genes for childhood heritable diseases KM Boycott, DA Dyment, SL Sawyer, MR Vanstone, CL Beaulieu Annual review of medicine 65 (1), 19-31, 2014 | 45 | 2014 |
| 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 | 34 | 2014 |
| 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 | 29 | 2014 |
| 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 | 23 | 2018 |
| 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 | 11 | 2014 |
| Identification, Validation and Characterization of the Mutation on Chromosome 18p which is Responsible for Causing Myoclonus-Dystonia M Vanstone University of Ottawa (Canada), 2012 | 1 | 2012 |
| 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 |
