Taila Hartley

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Kym M. Boycott, Ana Rath, Jessica X. Chong et al. · The American Journal of Human Genetics · 2017 · 434 citations · Full text

ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants

Najmeh Alirezaie, Kristin D. Kernohan, Taila Hartley et al. · The American Journal of Human Genetics · 2018 · 277 citations · Full text

Allelic Variant, Genetics, Genetic Epidemiology +8

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

Kym M. Boycott, Taila Hartley, Shelin Adam et al. · Journal of Medical Genetics · 2015 · 228 citations · Full text

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

Kym M. Boycott, Taila Hartley, Leslie G. Biesecker et al. · Cell · 2019 · 174 citations · Full text

Genetic Diseases, Genetic Testing, Rare Diseases +11

PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

Orion J. Buske, Marta Gîrdea, Sergiu Dumitriu et al. · Human Mutation · 2015 · 124 citations · Full text

Genetics, Pathology, Genomics +21