Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants
Bushra Haque, David Cheerie, Amy Pan, Meredith Curtis et autres
7 citationsPLoS Genetics
Meredith Curtis
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29Publications signalées
740Citations signalées
2Affiliations récentes
Institutions déclarées
Domaines associés
Genomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesCancer Genomics and DiagnosticsGenetic Associations and EpidemiologyCongenital heart defects research
Publications récentes
Seeking American Society of Clinical Oncology‐Quality Oncology Practice Initiative ( ASCO‐QOPI ) certification in a northern New England rural health system and cancer care network
Hilary M. Perrey, Evelyn Taylor, Brett F. Cropp, Meaghan J. Bumpus et autres
0 citationsLearning Health Systems
A comparative medical genomics approach may facilitate the interpretation of rare missense variation
Bushra Haque, George Guirguis, Meredith Curtis, Hera Mohsin et autres
4 citationsJournal of Medical Genetics
Leveraging cancer mutation data to predict the pathogenicity of germline missense variants
Bushra Haque, David Cheerie, Amy Pan, Meredith Curtis et autres
0 citationsmedRxiv
P829: Comparative medical genetics to facilitate the interpretation of rare missense variation
Bushra Haque, George Guirguis, Meredith Curtis, Hera Mohsin et autres
0 citationsGenetics in Medicine Open
P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study
Nicole Si Yan Liang, Gregory Costain, Alissa M. D’Gama, Amy McTague et autres
0 citationsGenetics in Medicine Open
P642: Development and deployment of clinical genome sequencing using a cloud-based platform
Lynette Lau, Edward Higginbotham, Wilson W. L. Sung, Venuja Sriretnakumar et autres
0 citationsGenetics in Medicine Open
P616: Genome-wide Sequencing Ontario (GSO): Insight into Ontario’s rare disease landscape
Meredith Gillespie, Robin Z. Hayeems, Christian R. Marshall, Anna Szuto et autres
0 citationsGenetics in Medicine Open
P540: Genome-wide Sequencing Ontario (GSO): Canada’s first provincial clinical genome-wide sequencing service
Meredith Gillespie, Robin Z. Hayeems, Christian R. Marshall, Anna Szuto et autres
0 citationsGenetics in Medicine Open
A comparative medical genomics approach may facilitate the interpretation of rare missense variation
Bushra Haque, George Guirguis, Meredith Curtis, Hera Mohsin et autres
2 citationsmedRxiv
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study
Alissa M. D’Gama, Sarah Mulhern, Beth Rosen Sheidley, Fadil Boodhoo et autres
78 citationsThe Lancet Neurology
O47: Leveraging somatic cancer mutation data to predict the pathogenicity of germline missense variants*
Bushra Haque, Saba Birkadze, Amy Pan, Alice Xu et autres
0 citationsGenetics in Medicine Open
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