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Erin Rooney Riggs | Researchclopedia

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Erin Rooney Riggs

71

Works

5,099

Citations

28

h-index

39

i10-index

Research Topics

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Cancer Genomics and Diagnostics

Affiliations

Geisinger Medical Center2019–2025

Emory University2012–2013

Autism & Developmental Medicine Institute2013–2025

Pediatrics and Genetics2020–2020

Geisinger Health System2014–2025

Top 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)

Erin Rooney Riggs,Erica Andersen,et al.

20191,704 citations

BRCA gene mutations in cancer

Biomedical Text Mining and Ontologies

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

Sebastian Köhler,Sandra C. Doelken,et al.

2013837 citations

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

Natasha T. Strande,Erin Rooney Riggs,et al.

2017548 citations

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

Kent Shefchek,Nomi L. Harris,et al.

2019264 citations

The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

Marina T. DiStefano,Scott Goehringer,et al.

2022150 citations

Using ClinVar as a Resource to Support Variant Interpretation

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

2016131 citations

Mondo: Unifying diseases for the world, by the world

Nicole Vasilevsky,Nicolas Matentzoglu,et al.

202298 citations

Chromosomal microarray impacts clinical management

Erin Rooney Riggs,Karen E. Wain,et al.

201390 citations

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

Marni J. Falk,Li Shen,et al.

201489 citations