Renée C. Pelletier

Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History

Aniruddh P. Patel, Minxian Wang, Akl C. Fahed et al. · JAMA Network Open · 2020 · 110 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures

Samantha Palmer, Meghan C. Towne, Phillip L. Pearl et al. · Pediatric Neurology · 2016 · 57 citations · Full text

Medicine, Neurology, Neuroscience +16

Clinical Implementation of Combined Monogenic and Polygenic Risk Disclosure for Coronary Artery Disease

Dimitri J. Maamari, Deanna Brockman, Krishna G. Aragam et al. · JACC Advances · 2022 · 41 citations · Full text

Medicine, Cardiology, Genetics +17

Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test

Deanna Brockman, Christina Austin‐Tse, Renée C. Pelletier et al. · Genetics in Medicine · 2021 · 33 citations · Full text

Life Sciences, Genetics, Molecular Medicine +14

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations

Catherine A. Brownstein, Alan H. Beggs, Lance H. Rodan et al. · Neurogenetics · 2015 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14