| Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion AN Abou Tayoun, T Pesaran, MT DiStefano, A Oza, HL Rehm, ... Human mutation 39 (11), 1517-1524, 2018 | 625 | 2018 |
| ACMG SF v3. 0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG) DT Miller, K Lee, WK Chung, AS Gordon, GE Herman, TE Klein, ... Genetics in medicine 23 (8), 1381-1390, 2021 | 468 | 2021 |
| Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework SV Tavtigian, MS Greenblatt, SM Harrison, RL Nussbaum, SA Prabhu, ... Genetics in medicine 20 (9), 1054-1060, 2018 | 426 | 2018 |
| Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework SE Brnich, AN Abou Tayoun, FJ Couch, GR Cutting, MS Greenblatt, ... Genome medicine 12, 1-12, 2020 | 411 | 2020 |
| Evaluating the clinical validity of hypertrophic cardiomyopathy genes J Ingles, J Goldstein, C Thaxton, C Caleshu, EW Corty, SB Crowley, ... Circulation: Genomic and Precision Medicine 12 (2), e002460, 2019 | 346 | 2019 |
| Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy … MA Kelly, C Caleshu, A Morales, J Buchan, Z Wolf, SM Harrison, S Cook, ... Genetics in Medicine 20 (3), 351-359, 2018 | 335 | 2018 |
| Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar SM Harrison, JS Dolinsky, AE Knight Johnson, T Pesaran, DR Azzariti, ... Genetics in Medicine 19 (10), 1096-1104, 2017 | 224 | 2017 |
| Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and … DT Miller, K Lee, AS Gordon, LM Amendola, K Adelman, SJ Bale, ... Genetics in Medicine 23 (8), 1391-1398, 2021 | 202 | 2021 |
| BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2 MS Cline, RG Liao, MT Parsons, B Paten, F Alquaddoomi, A Antoniou, ... PLoS genetics 14 (12), e1007752, 2018 | 202 | 2018 |
| The ACMG/AMP reputable source criteria for the interpretation of sequence variants LG Biesecker, SM Harrison Genetics in Medicine 20 (12), 1687-1688, 2018 | 201 | 2018 |
| Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria V Pejaver, AB Byrne, BJ Feng, KA Pagel, SD Mooney, R Karchin, ... The American Journal of Human Genetics 109 (12), 2163-2177, 2022 | 182 | 2022 |
| ACMG SF v3. 1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG) DT Miller, K Lee, NS Abul-Husn, LM Amendola, K Brothers, WK Chung, ... Genetics in Medicine 24 (7), 1407-1414, 2022 | 171 | 2022 |
| ClinGen variant curation expert panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation EA Rivera‐Muñoz, LV Milko, SM Harrison, DR Azzariti, CL Kurtz, K Lee, ... Human mutation 39 (11), 1614-1622, 2018 | 156 | 2018 |
| Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines SV Tavtigian, SM Harrison, KM Boucher, LG Biesecker Human mutation 41 (10), 1734-1737, 2020 | 139 | 2020 |
| Updated recommendation for the benign stand‐alone ACMG/AMP criterion R Ghosh, SM Harrison, HL Rehm, SE Plon, LG Biesecker, ... Human mutation 39 (11), 1525-1530, 2018 | 136 | 2018 |
| 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 |
| An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with … BD Solomon, LA Baker, KA Bear, BK Cunningham, PF Giampietro, ... The Journal of pediatrics 164 (3), 451-457. e1, 2014 | 128 | 2014 |
| Overview of specifications to the ACMG/AMP variant interpretation guidelines SM Harrison, LG Biesecker, HL Rehm Current protocols in human genetics 103 (1), e93, 2019 | 126 | 2019 |
| Recommendations for clinical interpretation of variants found in non-coding regions of the genome JM Ellingford, JW Ahn, RD Bagnall, D Baralle, S Barton, C Campbell, ... Genome medicine 14 (1), 73, 2022 | 104 | 2022 |
| ClinVar miner: demonstrating utility of a web‐based tool for viewing and filtering ClinVar data A Henrie, SE Hemphill, N Ruiz‐Schultz, B Cushman, MT DiStefano, ... Human mutation 39 (8), 1051-1060, 2018 | 97 | 2018 |
