| 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 | 1288 | 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 | 1266 | 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 | 937 | 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 | 542 | 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 | 510 | 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 | 233 | 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 | 129 | 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 | 124 | 2012 |
| Chromosomal microarray impacts clinical management ER Riggs, KE Wain, D Riethmaier, B Smith‐Packard, WA Faucett, ... Clinical Genetics 85 (2), 147-153, 2014 | 99 | 2014 |
| 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 | 91 | 2022 |
| 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 | 91 | 2015 |
| 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 | 73 | 2012 |
| 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 | 71 | 2022 |
| 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 | 61 | 2015 |
| 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 | 48 | 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 | 42 | 2018 |
| 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 | 42 | 2013 |
| 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 | 38 | 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 | 35 | 2021 |
| Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification C Thaxton, ME Good, MT DiStefano, X Luo, EF Andersen, E Thorland, ... Human mutation 43 (8), 1031-1040, 2022 | 34 | 2022 |