Margaret L. McKinnon

Exome Sequencing and the Management of Neurometabolic Disorders

Maja Tarailo‐Graovac, Casper Shyr, Colin J.D. Ross et al. · New England Journal of Medicine · 2016 · 280 citations · Full text

Life Sciences, Bioinformatics, Genetics +12

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Ghayda Mirzaa, Andrew E. Timms, Valerio Conti et al. · JCI Insight · 2016 · 190 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in<i>FLNC</i>are Associated with Familial Restrictive Cardiomyopathy

Andreas Brodehl, Raechel A. Ferrier, Sara Hamilton et al. · Human Mutation · 2015 · 178 citations

Life Sciences, Cardiology, Genetics +16

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Przemysław Szafrański, Tomasz Gambin, Avinash V. Dharmadhikari et al. · Human Genetics · 2016 · 170 citations · Full text

Medicine, Clinical Sciences, Pathology +13

Human germline heterozygous gain-of-function <i>STAT6</i> variants cause severe allergic disease

Mehul Sharma, Daniel Leung, Mana Momenilandi et al. · The Journal of Experimental Medicine · 2023 · 112 citations · Full text

Life Sciences, Genetics, Immunology +17