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 · 493 citations · Full text

Genetics, Genetic Epidemiology, Pathology +22

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 · 281 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

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 · 133 citations · Full text

Neuroimaging Biomarkers, Neurodegenerative Diseases, Synaptic Plasticity +11

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 · 110 citations · Full text

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 · 105 citations · Full text