Prati
Erin Rooney Riggs
Erin Rooney Riggs
Genetic Counselor, Geisinger Health System
Potvrđena adresa e-pošte na geisinger.edu
Naslov
Citirano
Citirano
Godina
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
11822015
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
10972020
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
9152014
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
4752019
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
4572017
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
2042020
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
1242016
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
1222012
Chromosomal microarray impacts clinical management
ER Riggs, KE Wain, D Riethmaier, B Smith‐Packard, WA Faucett, ...
Clinical Genetics 85 (2), 147-153, 2014
982014
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
912015
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
712022
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
712012
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
572015
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
412013
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
402022
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
402018
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
372022
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
362018
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
332018
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
292021
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