Megan Vanstone

Megan Vanstone

Saskatchewan Cancer Agency - Saskatoon / Canada
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 4514905
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person_outline Megan Vanstone's MOST POPULAR ARTICLES
1-) Rare-disease genetics in the era of next-generation sequencing: discovery to translationKM Boycott, MR Vanstone, DE Bulman, AE MacKenzieNature Reviews Genetics 14 (10), 681-691, 20138002013
2-) International cooperation to enable the diagnosis of all rare genetic diseasesKM Boycott, A Rath, JX Chong, T Hartley, FS Alkuraya, G Baynam, ...The American Journal of Human Genetics 100 (5), 695-705, 20172942017
3-) Mutations in PIK3R1 cause SHORT syndromeDA Dyment, AC Smith, D Alcantara, JA Schwartzentruber, ...The American Journal of Human Genetics 93 (1), 158-166, 20131572013
4-) A recurrent PDGFRB mutation causes familial infantile myofibromatosisYH Cheung, T Gayden, PM Campeau, CA LeDuc, D Russo, VH Nguyen, ...The American Journal of Human Genetics 92 (6), 996-1000, 20131682013
5-) De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeGM Mirzaa, DA Parry, AE Fry, KA Giamanco, J Schwartzentruber, ...Nature genetics 46 (5), 510-515, 20141482014