Sami S. Amr
Brigham and Women's Hospital(US)Harvard University(US)Mass General Brigham(US)
Publications by Year
Research Areas
Hearing, Cochlea, Tinnitus, Genetics, Genomics and Rare Diseases, RNA regulation and disease, Cancer-related molecular mechanisms research, RNA modifications and cancer
Most-Cited Works
- → Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss(2018)506 cited
- → A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2(2007)283 cited
- → Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson’s disease(2021)137 cited
- → A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children(2019)113 cited
- → 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(2020)106 cited
- → Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel(2019)99 cited