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Mayher Patel

Physician · University of Colorado School of Medicine

Credentials: ·

History

University of Colorado School of Medicine
Present

Internal Medicine
University of Colorado School of Medicine
2023–2026
University of Rochester School of Medicine and Dentistry
2021–2025

Research

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
Genetics in Medicine · 2021 · First of 24 authors · 37 citations
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2
Genetics in Medicine · 2022 · 21 citations
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel
Journal of Neuromuscular Diseases · 2025 · 3 citations

Joseph O’Brien
4 papers · 4 as a resident
Ada Hamosh
2 papers
Amanda Buchanan
2 papers
Anne O’Donnell
2 papers
Jonathan Berg
2 papers
MC
Maya Chopra
2 papers
SJ
Saumya Jamuar
2 papers
Timothy O'Brien
2 papers
Alvin Schmaier
1 paper
AG
Andrew Grant
1 paper
Annapurna Poduri
1 paper
Benjamin Click
1 paper