| 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 | 1030 | 2020 |
| Pathogenic germline variants in 10,389 adult cancers K Huang, RJ Mashl, Y Wu, DI Ritter, J Wang, C Oh, M Paczkowska, ... Cell 173 (2), 355-370. e14, 2018 | 702 | 2018 |
| A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia S Shah, KA Schrader, E Waanders, AE Timms, J Vijai, C Miething, ... Nature genetics 45 (10), 1226-1231, 2013 | 339 | 2013 |
| Assessing structural variation in a personal genome—towards a human reference diploid genome AC English, WJ Salerno, OA Hampton, C Gonzaga-Jauregui, S Ambreth, ... BMC genomics 16, 1-15, 2015 | 157 | 2015 |
| The clinical imperative for inclusivity: race, ethnicity, and ancestry (REA) in genomics AB Popejoy, DI Ritter, K Crooks, E Currey, SM Fullerton, LA Hindorff, ... Human mutation 39 (11), 1713-1720, 2018 | 119 | 2018 |
| A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer AH Wagner, B Walsh, G Mayfield, D Tamborero, D Sonkin, K Krysiak, ... Nature genetics 52 (4), 448-457, 2020 | 112 | 2020 |
| Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease SN Van Der Crabben, MP Hennus, GA McGregor, DI Ritter, ... The Journal of clinical investigation 126 (8), 2881-2892, 2016 | 85 | 2016 |
| A systematic approach to identify functional motifs within vertebrate developmental enhancers Q Li, D Ritter, N Yang, Z Dong, H Li, JH Chuang, S Guo Developmental biology 337 (2), 484-495, 2010 | 81 | 2010 |
| Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics … P Horak, M Griffith, AM Danos, BA Pitel, S Madhavan, X Liu, C Chow, ... Genetics in Medicine 24 (5), 986-998, 2022 | 77 | 2022 |
| Clinical genetics lacks standard definitions and protocols for the collection and use of diversity measures AB Popejoy, KR Crooks, SM Fullerton, LA Hindorff, GW Hooker, ... The American Journal of Human Genetics 107 (1), 72-82, 2020 | 65 | 2020 |
| Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels K Lee, BA Seifert, H Shimelis, R Ghosh, SB Crowley, NJ Carter, ... Genetics in Medicine 21 (7), 1497-1506, 2019 | 64 | 2019 |
| The importance of being cis: evolution of orthologous fish and mammalian enhancer activity DI Ritter, Q Li, D Kostka, KS Pollard, S Guo, JH Chuang Molecular biology and evolution 27 (10), 2322-2332, 2010 | 64 | 2010 |
| Somatic cancer variant curation and harmonization through consensus minimum variant level data DI Ritter, S Roychowdhury, A Roy, S Rao, MJ Landrum, D Sonkin, ... Genome Medicine 8, 1-9, 2016 | 63 | 2016 |
| Transcriptional enhancers in protein-coding exons of vertebrate developmental genes DI Ritter, Z Dong, S Guo, JH Chuang PloS one 7 (5), e35202, 2012 | 56 | 2012 |
| Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes MF Walsh, DI Ritter, C Kesserwan, D Sonkin, D Chakravarty, E Chao, ... Human mutation 39 (11), 1542-1552, 2018 | 49 | 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 | 34 | 2022 |
| Clinical Genome Resource (ClinGen) Ancestry and Diversity Working Group (ADWG) The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics AB Popejoy, DI Ritter, K Crooks, E Currey, SM Fullerton, LA Hindorff, ... Hum Mutat 39 (11), 1713-1720, 2018 | 28 | 2018 |
| Clingen cancer somatic working group–standardizing and democratizing access to cancer molecular diagnostic data to drive translational research S Madhavan, D Ritter, C Micheel, S Rao, A Roy, D Sonkin, M Mccoy, ... PACIFIC SYMPOSIUM ON BIOCOMPUTING 2018: Proceedings of the Pacific Symposium …, 2018 | 25 | 2018 |
| Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework BA Seifert, JL McGlaughon, SA Jackson, DI Ritter, ME Roberts, ... Genetics in Medicine 21 (7), 1507-1516, 2019 | 22 | 2019 |
| Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties KE Wain, DR Azzariti, JL Goldstein, AK Johnson, P Krautscheid, B Lepore, ... Genetics in Medicine 22 (4), 785-792, 2020 | 21 | 2020 |
