Search filters

List of works by Erin Rooney Riggs

ClinGen's GenomeConnect registry enables patient-centered data sharing

scientific article published on 01 November 2018

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar

scientific article published on 01 November 2018

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

scientific article published on 24 May 2017

GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge

scientific article

Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis

scientific article published on 18 July 2014

Mondo: Unifying diseases for the world, by the world

Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience

scientific article published on 20 March 2012

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

article

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

scientific article (publication date: 2014)

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

scientific article (publication date: June 2013)

Using ClinVar as a Resource to Support Variant Interpretation

scientific article

Paulina is supported by:

About Paulina

Help