Marina T. DiStefano - Concepedia

Author

Marina T. DiStefano

Also Known As

DiStefano, M., DiStefano, Marina, DiStefano, Marina T., M DiStefano, M Distefano, M. DiStefano, M. Distefano, M.T. DiStefano, Maria Elvira Distefano, Marina DiStefano

Publications

4.4K

Citations

H-Index

Concepts

All Affiliations

Broad Institute University of North Carolina at Chapel Hill Harvard University Massachusetts General Hospital Mass General Brigham

About

Marina T. DiStefano is an author at Broad Institute specializing in medicine, genetics, and genetic epidemiology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	17	18	3.7K
2	Health Sciences	5	5	743
3	Public Health	5	5	1.6K
4	Arts	3	3	204
5	Engineering	1	1	148

Marina T. DiStefano

Publications

4.2K

Citations

H-Index

Page 1

	Year	Citations
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion Ahmad Abou Tayoun, Tina Pesaran, Marina T. DiStefano, Human Mutation GeneticsGenetic EpidemiologyHuman PolymorphismPathologyDisease Gene Identification	2018	821
Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood Amit V. Khera, Mark Chaffin, Kaitlin H. Wade, Cell ObesityChildhood ObesityBody CompositionObesity TrajectoriesPolygenic Risk	2019	788
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, The American Journal of Human Genetics Clinical Genome ResourceGene-disease AssociationsGenome-wide Association StudyClinical ValidityMedicine	2017	536
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill, Human Mutation GeneticsGenetic EpidemiologyPathologyHearing HealthGenomics	2018	493
IL-1 Signaling in Obesity-Induced Hepatic Lipogenesis and Steatosis Kimberly A. Negrin, Rachel J. Roth Flach, Marina T. DiStefano, PLoS ONE Il-1 SignalingImmunologyImmune RegulationPathologyFatty Liver Disease	2014	161
ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data Alex Henrie, Sarah E. Hemphill, Nicole Ruiz-Schultz, Human Mutation EngineeringClinvar Miner ToolsGeneticsData ExplorationClinvar Miner	2018	148
The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Genetics in Medicine Bioinformatics DatabaseGlobal EffortGeneticsComputational GenomicsGene Curation Coalition	2022	145
ClinVar database of global familial hypercholesterolemia‐associated DNA variants Michael A. Iacocca, Joana Rita Chora, Alain Carrié, Human Mutation GeneticsGenetic EpidemiologyHuman PolymorphismGenomicsClinvar Database	2018	112
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel Jun Shen, Andrea M. Oza, Ignacio del Castillo, Genetics in Medicine GeneticsP.val37ile VariantsGenetic EpidemiologyPathologyCochlear Development	2019	98
ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza, Genetics in Medicine Genetic EpidemiologyAudiologyPathologyHearing DisordersNeurotology	2019	91

Page 1