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Author Details

Danielle R Azzariti
Broad Institute of Harvard and MIT
2014
22
16
PMIDPaper TitleJournal TitlePublished Year
35537081Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking.Hum Mutat2022
34007001Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry.Genet Med2021
32339034Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange.Annu Rev Genomics Hum Genet2020
31754268Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties.Genet Med2020
30670879A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement.Genet Med2019
30181607Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.Genet Med2019
29899502Development of a consent resource for genomic data sharing in the clinical setting.Genet Med2019
31256874Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project.Am J Hum Genet2019
29565423Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial.Genet Med2018
30133189Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.Mol Genet Genomic Med2018
30311389ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.Hum Mutat2018
30311371ClinGen's GenomeConnect registry enables patient-centered data sharing.Hum Mutat2018
29437798Points to consider for sharing variant-level information from clinical genetic testing with ClinVar.Cold Spring Harb Mol Case Stud2018
29790234ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data.Hum Mutat2018
28654958The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.Ann Intern Med2017
28081714ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.Genome Med2017
28301460Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.Genet Med2017
27037489Using ClinVar as a Resource to Support Variant Interpretation.Curr Protoc Hum Genet2016
27164662Determinants of white matter hyperintensity burden in patients with Fabry disease.Neurology2016
26178529GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge.Hum Mutat2015
26295439The Matchmaker Exchange: a platform for rare disease gene discovery.Hum Mutat2015
25714468A systematic approach to the reporting of medically relevant findings from whole genome sequencing.BMC Med Genet2014
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Collaborators

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Christa Lese Martin
Autism and Developmental Medicine Institute
Co-authored papers 9
Erin Rooney Riggs
Geisinger Autism & Developmental Medicine Institute
Co-authored papers 8
Erin M Ramos
National Human Genome Research Institute
Co-authored papers 5
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Co-authored papers 3
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Co-authored papers 3
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Jonathan S Berg
University of North Carolina
Co-authored papers 3
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Johns Hopkins University School of Medicine
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Partners Healthcare Center for Personalized Genetic Medicine
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The University of North Carolina at Chapel Hill
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Harvard Medical School and Cardiovascular Division, Brigham and Women's Hospital
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Carrie L Blout
Department of Medicine Brigham and Women's Hospital and Harvard Medical School
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Amy L McGuire
Baylor College of Medicine.
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Marina T DiStefano
Broad Institute of MIT and Harvard
Co-authored papers 2
Gail P Jarvik
University of Washington Medical Center
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Jill O Robinson
Baylor College of Medicine.
Co-authored papers 2
Kym M Boycott
Children's Hospital of Eastern Ontario
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Michael F Murray
Yale School of Medicine
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Laura Lyman Rodriguez
Patient-Centered Outcomes Research Institute
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Johan T den Dunnen
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