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Author Details

Marina T DiStefano
Broad Institute of MIT and Harvard
2014
21
15
PMIDPaper TitleJournal TitlePublished Year
37982373Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.Genet Med2024
37066232Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.medRxiv2023
34694049Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification.Hum Mutat2022
35802133Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genet Med2022
35507016The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.Genet Med2022
35754516Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation.Cell Genom2022
30670879A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement.Genet Med2019
31002795Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood.Cell2019
31160754Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.Genet Med2019
29790234ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data.Hum Mutat2018
30192042Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.Hum Mutat2018
30096381Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.J Mol Diagn2018
30311388ClinVar database of global familial hypercholesterolemia-associated DNA variants.Hum Mutat2018
30311386Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.Hum Mutat2018
28552198Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.Am J Hum Genet2017
28611026Map4k4 impairs energy metabolism in endothelial cells and promotes insulin resistance in obesity.Am J Physiol Endocrinol Metab2017
26880110Tenomodulin promotes human adipocyte differentiation and beneficial visceral adipose tissue expansion.Nat Commun2016
27900258Adipocyte-specific Hypoxia-inducible gene 2 promotes fat deposition and diet-induced insulin resistance.Mol Metab2016
27226575Protein Kinase Mitogen-activated Protein Kinase Kinase Kinase Kinase 4 (MAP4K4) Promotes Obesity-induced Hyperinsulinemia.J Biol Chem2016
25922078The Lipid Droplet Protein Hypoxia-inducible Gene 2 Promotes Hepatic Triglyceride Deposition by Inhibiting Lipolysis.J Biol Chem2015
25216251IL-1 signaling in obesity-induced hepatic lipogenesis and steatosis.PLoS One2014
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Collaborators

Heidi L Rehm
The Broad Institute of MIT and Harvard
Co-authored papers 13
Erin Rooney Riggs
Geisinger Autism & Developmental Medicine Institute
Co-authored papers 5
Jonathan S Berg
University of North Carolina
Co-authored papers 5
Ada Hamosh
Johns Hopkins University School of Medicine
Co-authored papers 4
Jason K Kim
Co-authored papers 4
Christa Lese Martin
Autism and Developmental Medicine Institute
Co-authored papers 4
Zornitza Stark
Murdoch Children's Research Institute
Co-authored papers 3
Sami S Amr
Brigham and Women's Hospital, Harvard Medical School
Co-authored papers 3
Joanna S Amberger
Johns Hopkins University School of Medicine
Co-authored papers 3
Fowzan S Alkuraya
King Faisal Specialist Hospital and Research Center
Co-authored papers 3
Jennifer L Goldstein
University of North Carolina at Chapel Hill
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Angharad M Roberts
National Heart and Lung Institute, Imperial College London
Co-authored papers 3
Erin M Ramos
National Human Genome Research Institute
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James S Ware
Co-authored papers 3
Karen Eilbeck
University of Utah
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University of North Carolina at Chapel Hill
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European Bioinformatics Institute
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Julia Foreman
Wellcome Sanger Institute, European Bioinformatics Institute
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Ellen M McDonagh
European Bioinformatics Institute (EMBL-EBI)
Co-authored papers 2
Danielle R Azzariti
Broad Institute of Harvard and MIT
Co-authored papers 2
Helen V Firth
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
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Ana Rath
INSERM
Co-authored papers 2
Fiona Cunningham
European Bioinformatics Institute
Co-authored papers 2
Steve E Humphries
Co-authored papers 1
Sekar Kathiresan
Co-authored papers 1
Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 1
Caroline F Wright
University of Exeter, Royal Devon and Exeter Hospital
Co-authored papers 1
J Michael Cherry
Stanford University
Co-authored papers 1
Kathleen Wallace
University of North Carolina
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Melissa A Haendel
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Release 1.2