Sami S. Amr

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill et al. · Human Mutation · 2018 · 517 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2

Sami S. Amr, Cindy Heisey, Min Zhang et al. · The American Journal of Human Genetics · 2007 · 284 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson’s disease

Ganqiang Liu, Jiajie Peng, Zhixiang Liao et al. · Nature Genetics · 2021 · 140 citations · Full text

Life Sciences, Genetics, Neuroscience +17

A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children

A. Eliot Shearer, Jun Shen, Sami S. Amr et al. · Genetics in Medicine · 2019 · 115 citations · Full text

Medicine, Genetics, Pediatrics +17

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