Marina T. DiStefano

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

Ahmad Abou Tayoun, Tina Pesaran, Marina T. DiStefano et al. · Human Mutation · 2018 · 881 citations

Life Sciences, Genetics, Molecular Genetics +14

Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood

Amit V. Khera, Mark Chaffin, Kaitlin H. Wade et al. · Cell · 2019 · 829 citations · Full text

Life Sciences, Biostatistics, Genetics +14

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

Natasha T. Strande, Erin Rooney Riggs, Adam H. Buchanan et al. · The American Journal of Human Genetics · 2017 · 564 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill et al. · Human Mutation · 2018 · 517 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Kimberly A. Negrin, Rachel J. Roth Flach, Marina T. DiStefano et al. · PLoS ONE · 2014 · 166 citations · Full text

Life Sciences, Biochemistry, Cell Biology +17