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Erin Rooney Riggs
Researcher at Geisinger Health System
Publications - 36
Citations - 2693
Erin Rooney Riggs is an academic researcher from Geisinger Health System. The author has contributed to research in topics: Biology & Medicine. The author has an hindex of 15, co-authored 28 publications receiving 1847 citations. Previous affiliations of Erin Rooney Riggs include Emory University & Geisinger Medical Center.
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Journal ArticleDOI
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Sebastian Köhler,Sandra C. Doelken,Christopher J. Mungall,Sebastian Bauer,Helen V. Firth,Helen V. Firth,Isabelle Bailleul-Forestier,Graeme C.M. Black,Danielle L. Brown,Michael Brudno,Jennifer Campbell,Jennifer Campbell,David R. FitzPatrick,Janan T. Eppig,Andrew P. Jackson,Kathleen Freson,Marta Girdea,Ingo Helbig,Jane A. Hurst,Johanna A. Jähn,Laird G. Jackson,Anne M. Kelly,David H. Ledbetter,Sahar Mansour,Christa Lese Martin,Celia Moss,Andrew D Mumford,Willem H. Ouwehand,Willem H. Ouwehand,Soo Mi Park,Erin Rooney Riggs,Richard H. Scott,Sanjay M. Sisodiya,Steven Van Vooren,Ronald J. Wapner,Andrew O.M. Wilkie,Caroline F. Wright,Anneke T. Vulto-van Silfhout,Nicole de Leeuw,Bert B.A. de Vries,Nicole L. Washingthon,Cynthia L. Smith,Monte Westerfield,Paul N. Schofield,Barbara J. Ruef,Georgios V. Gkoutos,Melissa A. Haendel,Damian Smedley,Suzanna E. Lewis,Peter N. Robinson,Peter N. Robinson +50 more
TL;DR: The updated HPO database is described, which provides annotations of 7,278 human hereditary syndromes listed in OMIM, Orphanet and DECIPHER to classes of the HPO, allowing integration of existing datasets and interoperability with multiple biomedical resources.
Journal ArticleDOI
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 F. Andersen,Erica F. Andersen,Athena M. Cherry,Sibel Kantarci,Hutton M. Kearney,Ankita Patel,Gordana Raca,Deborah I. Ritter,Sarah T. South,Erik C. Thorland,Daniel E. Pineda-Alvarez,Swaroop Aradhya,Christa Lese Martin +13 more
TL;DR: A quantitative, evidence-based scoring framework is introduced; the implementation of the five-tier classification system widely used in sequence variant classification is encouraged; and “uncoupling” the evidence- based classification of a variant from its potential implications for a particular individual is recommended.
Journal ArticleDOI
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource
Natasha T. Strande,Erin Rooney Riggs,Adam H. Buchanan,Ozge Ceyhan-Birsoy,Marina T. DiStefano,Selina S. Dwight,Jennifer L. Goldstein,Rajarshi Ghosh,Bryce A. Seifert,Tam P. Sneddon,Matthew Wright,Laura V. Milko,J. Michael Cherry,Monica A. Giovanni,Michael F. Murray,Julianne M. O’Daniel,Erin M. Ramos,Avni Santani,Avni Santani,Alan F. Scott,Sharon E. Plon,Heidi L. Rehm,Christa Lese Martin,Jonathan S. Berg +23 more
TL;DR: An evidence-based, systematic method to assess the strength of gene-disease relationships will facilitate more knowledgeable utilization of genomic variants in clinical and research settings.
Posted ContentDOI
Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource
Natasha T. Strande,Erin Rooney Riggs,Adam H. Buchanan,Ozge Ceyhan-Birsoy,Marina T. DiStefano,Selina S. Dwight,Jennifer L. Goldstein,Rajarshi Ghosh,Bryce A. Seifert,Tam P. Sneddon,Matthew Wright,Laura V. Milko,J. Michael Cherry,Monica A. Giovanni,Michael F. Murray,Julianne M. O’Daniel,Erin M. Ramos,Avni Santani,Alan F. Scott,Sharon E. Plon,Heidi L. Rehm,Christa Lese Martin,Jonathan S. Berg +22 more
TL;DR: ClinGen has developed a framework to define and evaluate the clinical validity of gene-disease pairs across a variety of Mendelian disorders and will facilitate more knowledgeable utilization of genomic variants in clinical and research settings.
Journal ArticleDOI
Towards an evidence-based process for the clinical interpretation of copy number variation
Erin Rooney Riggs,Deanna M. Church,K Hanson,Vanessa L. Horner,Erin B. Kaminsky,Robert M. Kuhn,Karen E. Wain,Eli S. Williams,Swaroop Aradhya,HM Kearney,David H. Ledbetter,Sarah T. South,Erik C. Thorland,Christa Lese Martin +13 more
TL;DR: The evidence‐based process for the clinical interpretation of copy number variation should be considered as a guide for the design of clinical practice in the field of medicine.