Author
Broad Institute
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
5 papers
Recent·Most cited
Mayher J. Patel, Marina T. DiStefano, Andrea M. Oza…·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.
Jun Shen, Andrea M. Oza, Ignacio del Castillo…·Lisa A. Schimmenti
The paper resolves the classification of two GJB2 variants as pathogenic for autosomal recessive nonsyndromic hearing loss through expert consensus.
Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza…·Keijan Zhang
The paper curates 164 gene-disease pairs for hearing loss, classifying their clinical validity to improve genetic testing accuracy.
Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill…·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.
Marina T. DiStefano, Sarah E. Hemphill, Brandon J. Cushman…·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.