| Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples R Walsh, KL Thomson, JS Ware, BH Funke, J Woodley, KJ McGuire, ... Genetics in Medicine 19 (2), 192-203, 2017 | 667 | 2017 |
| Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease AM Roberts, JS Ware, DS Herman, S Schafer, J Baksi, AG Bick, ... Science translational medicine 7 (270), 270ra6-270ra6, 2015 | 443 | 2015 |
| Using high-resolution variant frequencies to empower clinical genome interpretation N Whiffin, E Minikel, R Walsh, AH O’Donnell-Luria, K Karczewski, AY Ing, ... Genetics in Medicine 19 (10), 1151-1158, 2017 | 412 | 2017 |
| 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 | 327 | 2018 |
| 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 | 325 | 2019 |
| Titin-truncating variants affect heart function in disease cohorts and the general population S Schafer, A De Marvao, E Adami, LR Fiedler, B Ng, E Khin, ... Nature genetics 49 (1), 46-53, 2017 | 287 | 2017 |
| 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 | 260 | 2021 |
| Genetic variants associated with cancer therapy–induced cardiomyopathy P Garcia-Pavia, Y Kim, MA Restrepo-Cordoba, IG Lunde, H Wakimoto, ... Circulation 140 (1), 31-41, 2019 | 236 | 2019 |
| Genetic etiology for alcohol-induced cardiac toxicity JS Ware, A Amor-Salamanca, U Tayal, R Govind, I Serrano, ... Journal of the American College of Cardiology 71 (20), 2293-2302, 2018 | 234 | 2018 |
| Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes R Walsh, R Buchan, A Wilk, S John, LE Felkin, KL Thomson, TH Chiaw, ... European heart journal 38 (46), 3461-3468, 2017 | 197 | 2017 |
| Reevaluating the genetic contribution of monogenic dilated cardiomyopathy F Mazzarotto, U Tayal, RJ Buchan, W Midwinter, A Wilk, N Whiffin, ... Circulation 141 (5), 387-398, 2020 | 182 | 2020 |
| Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect R Tadros, C Francis, X Xu, AMC Vermeer, AR Harper, R Huurman, ... Nature genetics 53 (2), 128-134, 2021 | 171 | 2021 |
| Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy R Walsh, F Mazzarotto, N Whiffin, R Buchan, W Midwinter, A Wilk, N Li, ... Genome medicine 11, 1-18, 2019 | 114 | 2019 |
| Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations F Domínguez, S Cuenca, Z Bilińska, R Toro, E Villard, R Barriales-Villa, ... Journal of the American College of Cardiology 72 (20), 2471-2481, 2018 | 108 | 2018 |
| Transethnic genome-wide association study provides insights in the genetic architecture and heritability of long QT syndrome N Lahrouchi, R Tadros, L Crotti, Y Mizusawa, PG Postema, L Beekman, ... Circulation 142 (4), 324-338, 2020 | 107 | 2020 |
| Phenotype and clinical outcomes of titin cardiomyopathy U Tayal, S Newsome, R Buchan, N Whiffin, B Halliday, A Lota, A Roberts, ... Journal of the American College of Cardiology 70 (18), 2264-2274, 2017 | 102 | 2017 |
| Complex roads from genotype to phenotype in dilated cardiomyopathy: scientific update from the Working Group of Myocardial Function of the European Society of Cardiology A Bondue, E Arbustini, A Bianco, M Ciccarelli, D Dawson, M De Rosa, ... Cardiovascular Research 114 (10), 1287-1303, 2018 | 97 | 2018 |
| Development of a comprehensive sequencing assay for inherited cardiac condition genes CJ Pua, J Bhalshankar, K Miao, R Walsh, S John, SQ Lim, K Chow, ... Journal of cardiovascular translational research 9, 3-11, 2016 | 91 | 2016 |
| CardioClassifier: disease-and gene-specific computational decision support for clinical genome interpretation N Whiffin, R Walsh, R Govind, M Edwards, M Ahmad, X Zhang, U Tayal, ... Genetics in Medicine 20 (10), 1246-1254, 2018 | 86 | 2018 |
| Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies F Mazzarotto, MH Hawley, M Beltrami, L Beekman, A De Marvao, ... Genetics in Medicine 23 (5), 856-864, 2021 | 67 | 2021 |
James S. WareProfessor of Cardiovascular and Genomic Medicine, Imperial College LondonVerifierad e-postadress på imperial.ac.uk
