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Danielle R. Azzariti | Researchclopedia

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Danielle R. Azzariti

36

Works

2,448

Citations

24

h-index

28

i10-index

Research Topics

Genomics and Rare Diseases Cancer Genomics and Diagnostics BRCA gene mutations in cancer

Affiliations

Broad Institute2017–2025

University of North Carolina at Chapel Hill2017–2017

Oregon Health & Science University2017–2017

Baylor College of Medicine2017–2017

Université de Versailles Saint-Quentin-en-Yvelines2016–2016

Top Works

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Anthony Philippakis,Danielle R. Azzariti,et al.

2015482 citations

Genomic variations and chromosomal abnormalities

Ethics in Clinical Research

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

Steven M. Harrison,Jill S. Dolinsky,et al.

2017245 citations

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

E. Andres Rivera-Munoz,Laura V. Milko,et al.

2018211 citations

The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients

Jason L. Vassy,Kurt D. Christensen,et al.

2017166 citations

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Robert C. Green,Katrina A.B. Goddard,et al.

2016163 citations

ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data

Alex Henrie,Sarah E. Hemphill,et al.

2018149 citations

Using ClinVar as a Resource to Support Variant Interpretation

Steven M. Harrison,Erin Rooney Riggs,et al.

2016131 citations

A systematic approach to the reporting of medically relevant findings from whole genome sequencing

Heather M. McLaughlin,Ozge Ceyhan‐Birsoy,et al.

201494 citations

Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study

William J. Lane,Connie M. Westhoff,et al.

201890 citations