Researchclopedia

Research Researchers Institutions Topics Submit About

Command Palette

Search for a command to run...

Researchclopedia

Research Researchers Institutions About

© 2026 Researchclopedia. Powered by OpenAlex under CC0 license.

Annie Niehaus | Researchclopedia

Back to researchers

Annie Niehaus

Stanford Medicine ORCID

27

Works

514

Citations

9

h-index

9

i10-index

Research Topics

Genomics and Rare Diseases Ethics in Clinical Research BRCA gene mutations in cancer

Affiliations

National Institutes of Health2015–2018

Lucile Packard Children's Hospital2023–2024

Medical University of South Carolina2018–2019

Pomona College2014–2014

National Human Genome Research Institute2015–2018

Top Works

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

Jessica Ezzell Hunter,Stephanie A. Irving,et al.

2016151 citations

Metabolism and Genetic Disorders

Peroxisome Proliferator-Activated Receptors

Using ClinVar as a Resource to Support Variant Interpretation

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

2016131 citations

A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement

Annie Niehaus,Danielle R. Azzariti,et al.

201959 citations

After Myriad: Genetic Testing in the Wake of Recent Supreme Court Decisions about Gene Patents

Robert Cook‐Deegan,Annie Niehaus

201432 citations

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

Laura V. Milko,Birgit Funke,et al.

201829 citations

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

Danielle R. Azzariti,Erin Rooney Riggs,et al.

201828 citations

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

Erin Rooney Riggs,Danielle R. Azzariti,et al.

201825 citations

Providing Access to Genomic Variant Knowledge in a Healthcare Setting: A Vision for the ClinGen Electronic Health Records Workgroup

CL Overby,Bret S.E. Heale,et al.

201515 citations

Phenotypic variability in <scp><i>RERE</i></scp>‐related disorders and the first report of an inherited variant

Annie Niehaus,Jenny Kim,et al.

202210 citations