Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
2018 · Human Mutation · 821 citations
https://doi.org/10.1002/humu.23626
M
Marina T. DiStefano
Broad Institute(US)
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Marina T. DiStefano is an academic researcher from Broad Institute. The author has contributed to research in topics: Genomics and Rare Diseases & Hearing, Cochlea, Tinnitus, Genetics & Genomic variations and chromosomal abnormalities. The author has an h-index of 27, co-authored 74 publications.
ORCID: 0000-0002-8218-5111Papers by this author
worksTenomodulin promotes human adipocyte differentiation and beneficial visceral adipose tissue expansion
2016 · Nature Communications · 59 citations
https://doi.org/10.1038/ncomms10686
The Lipid Droplet Protein Hypoxia-inducible Gene 2 Promotes Hepatic Triglyceride Deposition by Inhibiting Lipolysis
2015 · Journal of Biological Chemistry · 56 citations
https://doi.org/10.1074/jbc.m115.650184
The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation
2024 · Genetics in Medicine · 42 citations
https://doi.org/10.1016/j.gim.2024.101228
HGVS Nomenclature 2024: improvements to community engagement, usability, and computability
2024 · Genome Medicine · 39 citations
https://doi.org/10.1186/s13073-024-01421-5
Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
2024 · Genetics in Medicine · 10 citations
https://doi.org/10.1016/j.gim.2024.101137
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