Erin Rooney Riggs
Erin Rooney Riggs
Genetic Counselor, Geisinger Health System
Potvrđena adresa e-pošte na
ClinGen—the clinical genome resource
HL Rehm, JS Berg, LD Brooks, CD Bustamante, JP Evans, MJ Landrum, ...
New England Journal of Medicine 372 (23), 2235-2242, 2015
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics …
ER Riggs, EF Andersen, AM Cherry, S Kantarci, H Kearney, A Patel, ...
Genetics in Medicine 22 (2), 245-257, 2020
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ...
Nucleic acids research 42 (D1), D966-D974, 2014
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
S Srivastava, JA Love-Nichols, KA Dies, DH Ledbetter, CL Martin, ...
Genetics in Medicine 21 (11), 2413-2421, 2019
Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the clinical genome resource
NT Strande, ER Riggs, AH Buchanan, O Ceyhan-Birsoy, M DiStefano, ...
The American Journal of Human Genetics 100 (6), 895-906, 2017
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species
KA Shefchek, NL Harris, M Gargano, N Matentzoglu, D Unni, M Brush, ...
Nucleic acids research 48 (D1), D704-D715, 2020
Using ClinVar as a resource to support variant interpretation
SM Harrison, ER Riggs, DR Maglott, JM Lee, DR Azzariti, A Niehaus, ...
Current protocols in human genetics 89 (1), 8.16. 1-8.16. 23, 2016
Towards an evidence‐based process for the clinical interpretation of copy number variation
ER Riggs, DM Church, K Hanson, VL Horner, EB Kaminsky, RM Kuhn, ...
Clinical genetics 81 (5), 403-412, 2012
Chromosomal microarray impacts clinical management
ER Riggs, KE Wain, D Riethmaier, B Smith‐Packard, WA Faucett, ...
Clinical Genetics 85 (2), 147-153, 2014
Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data …
MJ Falk, L Shen, M Gonzalez, J Leipzig, MT Lott, APM Stassen, ...
Molecular genetics and metabolism 114 (3), 388-396, 2015
The gene curation coalition: a global effort to harmonize gene–disease evidence resources
MT DiStefano, S Goehringer, L Babb, FS Alkuraya, J Amberger, M Amin, ...
Genetics in Medicine 24 (8), 1732-1742, 2022
Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience
ER Riggs, L Jackson, DT Miller, S Van Vooren
Human Mutation 33 (5), 787-796, 2012
GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge
BE Kirkpatrick, ER Riggs, DR Azzariti, VR Miller, DH Ledbetter, DT Miller, ...
Human mutation 36 (10), 974-978, 2015
T owards a U niversal C linical G enomics D atabase: The 2012 I nternational S tandards for C ytogenomic A rrays C onsortium M eeting
ER Riggs, KE Wain, D Riethmaier, M Savage, B Smith‐Packard, ...
Human mutation 34 (6), 915-919, 2013
Mondo: Unifying diseases for the world, by the world
NA Vasilevsky, NA Matentzoglu, S Toro, JE Flack IV, H Hegde, DR Unni, ...
medRxiv, 2022.04. 13.22273750, 2022
The ClinGen Epilepsy Gene Curation Expert Panel—bridging the divide between clinical domain knowledge and formal gene curation criteria
I Helbig, ER Riggs, CA Barry, KM Klein, D Dyment, C Thaxton, ...
Human mutation 39 (11), 1476-1484, 2018
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
CG Preston, MW Wright, R Madhavrao, SM Harrison, JL Goldstein, X Luo, ...
Genome medicine 14 (1), 6, 2022
Incorporating social media into your support tool box: points to consider from genetics-based communities
HM Rocha, JM Savatt, ER Riggs, JK Wagner, WA Faucett, CL Martin
Journal of genetic counseling 27, 470-480, 2018
ClinGen's GenomeConnect registry enables patient‐centered data sharing
JM Savatt, DR Azzariti, WA Faucett, S Harrison, J Hart, B Kattman, ...
Human mutation 39 (11), 1668-1676, 2018
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)
A Nisselle, M Janinski, M Martyn, B McClaren, N Kaunein, J Maguire, ...
Genetics in medicine 23 (7), 1356-1365, 2021
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