Author
Brigham and Women's HospitalORCID 0000-0001-9810-9095Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Michael Bouzinier, Dmitry Etin, S I Trifonov…·Joel B. Krier
AnFiSA is an open-source platform for analyzing sequencing data in rare genetic disease, addressing reproducibility, adaptability, and explainability in genomic analysis.
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.