Danielle R. Azzariti
Publications by Year
Research Areas
Genomics and Rare Diseases, Cancer Genomics and Diagnostics, BRCA gene mutations in cancer, Genomic variations and chromosomal abnormalities, Ethics in Clinical Research
Most-Cited Works
- → The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery(2015)482 cited
- → Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar(2017)245 cited
- → ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation(2018)211 cited
- → The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients(2017)166 cited
- → Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine(2016)163 cited
- → ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data(2018)149 cited
- → Using ClinVar as a Resource to Support Variant Interpretation(2016)131 cited
- → A systematic approach to the reporting of medically relevant findings from whole genome sequencing(2014)94 cited
- → Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study(2018)90 cited
- → GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge(2015)73 cited