Author

Sarah E. Hemphill

Mass General Brigham

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2 Genomics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 5 Approach:statistical model· 4 Research Focus:variant effect prediction· 4 Research Focus:database / resource· 3 Assay:GWAS summary statistics· 3 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Approach:experimental assay· 1

Frequent Co-Authors

Ahmad N. Abou TayouniD· 5 shared Andrea M. OzaiD· 5 shared Andrew R. GrantiD· 5 shared Heidi L. RehmiD· 5 shared Marina T. DiStefanoiD· 5 shared Rebecca K. Siegert· 5 shared Sami Samir AmriD· 5 shared Brandon J. Cushman· 4 shared

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2018-2021 · peak 2/yr

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10 top collaborators · 45 mutual co-author links

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5 shared papersGenetics

Ahmad N. Abou TayounORCID

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5 papers

Recent·Most cited

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

Mayher J. Patel, Marina T. DiStefano, Andrea M. Oza, Madeline Y. Hughes, Emma H. Wilcox, Sarah E. Hemphill, Brandon J. Cushman, Andrew R. Grant, Rebecca K. Siegert, Jun Shen, Alex Chapin, Nicole J. Boczek, Lisa A. Schimmenti, Kiyomitsu Nara, Margaret A. Kenna, , Kejian Zhang

The paper curates 157 variants in hearing loss genes using disease-specific ACMG/AMP guidelines, resolving 69% of discordant variants and 24% of VUS variants into clear classifications.

Genetics in Medicine · Jul 6, 2021Peer-reviewedGenetic & Genomic Medicine

Consensus interpretation of the Met34Thr and Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

Jun Shen, Andrea M. Oza, Ignacio del Castillo, Hatice Duzkale, Tatsuo Matsunaga, Arti Pandya, Hyunseok Peter Kang, Rebecca Mar‐Heyming, Saurav Guha, Krista Moyer, Christine Lo, Margaret A. Kenna, John J. Alexander, Yan Zhang, Yoel Hirsch, , Lisa A. Schimmenti

The paper resolves the classification of two GJB2 variants as pathogenic for autosomal recessive nonsyndromic hearing loss through expert consensus.

Genetics in Medicine · Jun 3, 2019Peer-reviewedGenetics

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs

Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza, Rebecca K. Siegert, Andrew R. Grant, Madeline Y. Hughes, Brandon J. Cushman, Héla Azaiez, Kevin T. A. Booth, Alex Chapin, Hatice Duzkale, Tatsuo Matsunaga, Jun Shen, Wenying Zhang, Margaret A. Kenna, , Keijan Zhang

The paper curates 164 gene-disease pairs for hearing loss, classifying their clinical validity to improve genetic testing accuracy.

Genetics in Medicine · Mar 20, 2019Peer-reviewedGenomics

Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss

Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill, Brandon J. Cushman, Andrew R. Grant, Rebecca K. Siegert, Jun Shen, Alex Chapin, Nicole J. Boczek, Lisa A. Schimmenti, Jaclyn B. Murry, Linda Hasadsri, Kiyomitsu Nara, Margaret A. Kenna, Kevin T. A. Booth, , Ahmad N. Abou Tayoun

The paper specifies ACMG/AMP variant interpretation guidelines for genetic hearing loss, updating and validating rules through expert curation of 51 variants.

Human Mutation · Oct 11, 2018Peer-reviewedGenetics

Curating clinically relevant transcripts for the interpretation of sequence variants

Marina T. DiStefano, Sarah E. Hemphill, Brandon J. Cushman, Mark Bowser, Elizabeth Duffy Hynes, Andrew R. Grant, Rebecca K. Siegert, Andrea M. Oza, Michael Gonzalez, Sami Samir Amr, Heidi L. Rehm, Ahmad N. Abou Tayoun

The paper curates clinically relevant transcripts for 109 hearing loss-associated genes to improve variant interpretation by classifying exons based on expression, variant frequency, and sequencing quality.

Journal of Molecular Diagnostics · Aug 7, 2018Peer-reviewedGenomics