DiStefano, Marina T.
https://orcid.org/0000-0002-8218-5111
Mayo Clinic
Precision Health Program Geisinger Danville Pennsylvania USA
Citations 2
Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification
Thaxton, Courtney , Good, Molly, DiStefano, Marina T. , Luo, Xi , Andersen, Erica , Thorland, Erik C., Martin, Christa Lese , Rehm, Heidi L. , Riggs, Erin Rooney , Group, ClinGen Gene Curation Working, Group, ClinGen Dosage Sensitivity Working, Thorland, Erik, Rehm, Heidi L , Riggs, Erin R , Thaxton, Courtney , Berg, Jonathan S. , Group, ClinGen Gene Curation Working, Group, ClinGen Dosage Sensitivity Working
Human Mutation | October 25, 2021 | Volume: 43 | Issue: 8 | Pages: 1031-1040
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
Oza, Andrea M. , DiStefano, Marina T. , Hemphill, Sarah E., Cushman, Brandon J., Grant, Andrew R. , Siegert, Rebecca K., Shen, Jun , Chapin, Alex, Boczek, Nicole J. , Schimmenti, Lisa A. , Murry, Jaclyn B. , Hasadsri, Linda , Nara, Kiyomitsu , Azaiez, Héla , Griffith, Andrew J. , Pappas, John , Rehm, Heidi L , Amr, Sami S , Abou Tayoun, Ahmad N , Schimmenti, Lisa A , Kenna, Margaret , Booth, Kevin T. , Avraham, Karen B. , Kremer, Hannie , Rehm, Heidi L. , Tayoun, Ahmad Abou
Human Mutation | October 12, 2018 | Volume: 39 | Issue: 11 | Pages: 1593-1613