标题/作者	年份
2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: a report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines SR Ommen, S Mital, MA Burke, SM Day, A Deswal, P Elliott, LL Evanovich, ... Journal of the American College of Cardiology 76 (25), e159-e240	2020
2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy JA Towbin, WJ McKenna, DJ Abrams, MJ Ackerman, H Calkins, ... Heart rhythm 16 (11), e301-e372	2019
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
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss AM Oza, MT DiStefano, SE Hemphill, BJ Cushman, AR Grant, RK Siegert, ... Human mutation 39 (11), 1593-1613	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), 1-12	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
Genetic testing for inherited cardiovascular diseases: a scientific statement from the American Heart Association K Musunuru, RE Hershberger, SM Day, NJ Klinedinst, AP Landstrom, ... Circulation: Genomic and Precision Medicine 13 (4), e000067	2020
Assessing the pathogenicity, penetrance, and expressivity of putative disease-causing variants in a population setting CF Wright, B West, M Tuke, SE Jones, K Patel, TW Laver, RN Beaumont, ... The American Journal of Human Genetics 104 (2), 275-286	2019
Evidence-based assessment of genes in dilated cardiomyopathy E Jordan, L Peterson, T Ai, B Asatryan, L Bronicki, E Brown, R Celeghin, ... Circulation 144 (1), 7-19	2021
ClinVar at five years: Delivering on the promise MJ Landrum, BL Kattman Human mutation 39 (11), 1623-1630	2018
The landscape of epilepsy-related GATOR1 variants S Baldassari, F Picard, NE Verbeek, M van Kempen, EH Brilstra, G Lesca, ... Genetics in Medicine 21 (2), 398-408	2019
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity AR Harper, A Goel, C Grace, KL Thomson, SE Petersen, X Xu, A Waring, ... Nature genetics 53 (2), 135-142	2021
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants K Lee, K Krempely, ME Roberts, MJ Anderson, F Carneiro, E Chao, ... Human mutation 39 (11), 1553-1568	2018
Genetics of dilated cardiomyopathy: practical implications for heart failure management AN Rosenbaum, KE Agre, NL Pereira Nature Reviews Cardiology 17 (5), 286-297	2020
Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN expert panel JL Mester, R Ghosh, T Pesaran, R Huether, R Karam, KS Hruska, ... Human mutation 39 (11), 1581-1592	2018
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
ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation BD Gelb, H Cavé, MW Dillon, KW Gripp, JA Lee, H Mason-Suares, ... Genetics in Medicine 20 (11), 1334-1345	2018
Whole-exome sequencing enables a precision medicine approach for kidney transplant recipients N Mann, DA Braun, K Amann, W Tan, S Shril, DM Connaughton, ... Journal of the American Society of Nephrology: JASN 30 (2), 201	2019
ClinGen myeloid malignancy variant curation expert panel recommendations for germline RUNX1 variants X Luo, S Feurstein, S Mohan, CC Porter, SA Jackson, S Keel, M Chicka, ... Blood advances 3 (20), 2962-2979	2019
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

1 - 20

计算机程序会自动估算并确定日期和引用次数。