Researchclopedia

Research Researchers Institutions Topics Submit About

Command Palette

Search for a command to run...

Researchclopedia

Research Researchers Institutions About

© 2026 Researchclopedia. Powered by OpenAlex under CC0 license.

Marina T. DiStefano | Researchclopedia

Back to researchers

Marina T. DiStefano

Broad Institute ORCID

86

Works

4,473

Citations

27

h-index

33

i10-index

Research Topics

Genomics and Rare Diseases Hearing, Cochlea, Tinnitus, Genetics Genomic variations and chromosomal abnormalities

Affiliations

Broad Institute2019–2025

University of Messina2017–2017

Brigham and Women's Hospital2018–2019

Harvard University2018–2019

University of Massachusetts Chan Medical School2014–2017

Top Works

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

Ahmad Abou Tayoun,Tina Pesaran,et al.

2018846 citations

CRISPR and Genetic Engineering

Cancer Genomics and Diagnostics

Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood

Amit V. Khera,Mark Chaffin,et al.

2019803 citations

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

Natasha T. Strande,Erin Rooney Riggs,et al.

2017548 citations

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

Andrea M. Oza,Marina T. DiStefano,et al.

2018507 citations

IL-1 Signaling in Obesity-Induced Hepatic Lipogenesis and Steatosis

Kimberly A. Negrin,Rachel J. Roth Flach,et al.

2014164 citations

The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

Marina T. DiStefano,Scott Goehringer,et al.

2022150 citations

ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data

Alex Henrie,Sarah E. Hemphill,et al.

2018149 citations

ClinVar database of global familial hypercholesterolemia‐associated DNA variants

Michael A. Iacocca,Joana Rita Chora,et al.

2018112 citations

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

Jun Shen,Andrea M. Oza,et al.

201999 citations