Erin Rooney Riggs

发表

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

Melissa J. Landrum, Heidi L. Rehm, Danielle R. Azzariti, 2018, Cold Spring Harbor molecular case studies.

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Damian Smedley, Paul N. Schofield, Peter N. Robinson, 2014, Nucleic Acids Res..

A web-based educational program to support the updated ACMG/ ClinGen technical standards for constitutional copy number variant classification

Deborah I. Ritter, Erin Rooney Riggs, Swaroop Aradhya, 2021 .

Launch of the gene curation coalition database

Fiona Cunningham, Ewan Birney, Heidi L. Rehm, 2021 .

GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge

Erin Rooney Riggs, Danielle R Azzariti, Heidi Rehm, 2015, Human mutation.

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

J. Michael Cherry, Heidi L. Rehm, Erin Rooney Riggs, 2017, bioRxiv.

The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria

Annapurna Poduri, Bekim Sadikovic, Erin Rooney Riggs, 2018, Human mutation.

Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays Consortium Meeting

Darlene Riethmaier, Erin Rooney Riggs, Heidi L Rehm, 2013, Human mutation.

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

J. Michael Cherry, Avni Santani, Heidi L. Rehm, 2017, bioRxiv.

Development of a Consent Resource for Genomic Data Sharing in the Clinical Setting

Heidi L. Rehm, Danielle R. Azzariti, Erin Rooney Riggs, 2018, Genetics in Medicine.