Annie Niehaus

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

Jessica Ezzell Hunter, Stephanie A. Irving, Leslie G. Biesecker et al. · Genetics in Medicine · 2016 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Using ClinVar as a Resource to Support Variant Interpretation

Steven M. Harrison, Erin Rooney Riggs, Donna Maglott et al. · Current Protocols in Human Genetics · 2016 · 133 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Points to consider for sharing variant-level information from clinical genetic testing with ClinVar

Danielle R. Azzariti, Erin Rooney Riggs, Annie Niehaus et al. · Molecular Case Studies · 2018 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future

Laura V. Milko, Birgit Funke, Ray E. Hershberger et al. · Genetics in Medicine · 2018 · 30 citations · Full text

Life Sciences, Bioinformatics, Biomedical Informatics +14

Development of a consent resource for genomic data sharing in the clinical setting

Erin Rooney Riggs, Danielle R. Azzariti, Annie Niehaus et al. · Genetics in Medicine · 2018 · 25 citations · Full text

Public Health, Biomedical Informatics, Health Informatics +16