Erin Rooney Riggs
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, BRCA gene mutations in cancer, Biomedical Text Mining and Ontologies
Most-Cited Works
- → Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)(2019)1,703 cited
- → The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data(2013)837 cited
- → Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource(2017)547 cited
- → The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species(2019)263 cited
- → The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources(2022)150 cited
- → Using ClinVar as a Resource to Support Variant Interpretation(2016)131 cited
- → Mondo: Unifying diseases for the world, by the world(2022)98 cited
- → Chromosomal microarray impacts clinical management(2013)90 cited
- → Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities(2014)89 cited
- → ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines(2022)80 cited