Author

Alex Chapin

Observed name: Chapin, Alex

Institution: ARUP Laboratories (United States)

Observed institutions: University of Utah, ARUP Laboratories (United States)

OpenAlex ID: A5036714686

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

2018 · Andrea M. Oza, Marina T. DiStefano, et al. · Human Mutation · 486

ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

2019 · Marina T. DiStefano, Sarah E. Hemphill, et al. · Genetics in Medicine · 88

Degradation of Gadd45 mRNA by nonsense-mediated decay is essential for viability

2016 · Jonathan O Nelson, Kristin A Moore, et al. · eLife · 78

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

2021 · Mayher J. Patel, Marina T. DiStefano, et al. · Genetics in Medicine · 44

In VivoDetermination of Direct Targets of the Nonsense-Mediated Decay Pathway inDrosophila

2014 · Alex Chapin, Hao Hu, et al. · G3 Genes Genomes Genetics · 30

Correction: ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

2019 · Marina T. DiStefano, Sarah E. Hemphill, et al. · Genetics in Medicine · 4

Author response: Degradation of Gadd45 mRNA by nonsense-mediated decay is essential for viability

2016 · Jonathan O Nelson, Kristin A Moore, et al. · 1

Analysis of the Physiological Roles of the Nonsense Mediated mRNA Decay Pathway in Drosophila Melanogaster

2019 · Chapin, Alex · J. Willard Marriott Library

Works count: 8

Citation count: 730

H-index: 5

I10-index: 5