Marina T. DiStefano
0000-0002-8218-5111
Publication & Citation Trends
Publications
0 total
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships OA
Cited by 0
Semantic Scholar
Generating Clinical-Grade Gene–Disease Validity Classifications Through the ClinGen Data Platforms
Cited by 10
Semantic Scholar
The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation.
Cited by 46
Semantic Scholar
P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies* OA
Cited by 0
Semantic Scholar
P673: Batch ClinVar submission support in ClinGen’s Variant Curation Interface (VCI) OA
Cited by 0
Semantic Scholar
P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions OA
Cited by 0
Semantic Scholar
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms OA
Cited by 10
Semantic Scholar
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms OA
Cited by 3
Semantic Scholar
Research Topics
Genomics and Rare Diseases
(39)
Hearing, Cochlea, Tinnitus, Genetics
(12)
Genomic variations and chromosomal abnormalities
(11)
CRISPR and Genetic Engineering
(9)
Cancer Genomics and Diagnostics
(9)
Affiliations
Broad Institute
University of Messina
Brigham and Women's Hospital
Harvard University
University of Massachusetts Chan Medical School