دنبال کردن
James S. Ware
James S. Ware
Professor of Cardiovascular and Genomic Medicine, Imperial College London
ایمیل تأیید شده در imperial.ac.uk - صفحهٔ اصلی
عنوان
نقل شده توسط
نقل شده توسط
سال
Analysis of protein-coding genetic variation in 60,706 humans‏
M Lek, KJ Karczewski, EV Minikel, KE Samocha, E Banks, T Fennell, ...‏
Nature 536 (7616), 285-291, 2016‏
107172016
The mutational constraint spectrum quantified from variation in 141,456 humans‏
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...‏
Nature 581 (7809), 434-443, 2020‏
84892020
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes‏
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...‏
biorxiv, 531210, 2019‏
12412019
2023 ESC Guidelines for the management of cardiomyopathies: Developed by the task force on the management of cardiomyopathies of the European Society of Cardiology (ESC)‏
E Arbelo, A Protonotarios, JR Gimeno, E Arbustini, R Barriales-Villa, ...‏
European heart journal 44 (37), 3503-3626, 2023‏
11332023
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies‏
J Homsy, S Zaidi, Y Shen, JS Ware, KE Samocha, KJ Karczewski, ...‏
Science 350 (6265), 1262-1266, 2015‏
8452015
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
7402017
Genotype and lifetime burden of disease in hypertrophic cardiomyopathy: insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe)‏
CY Ho, SM Day, EA Ashley, M Michels, AC Pereira, D Jacoby, AL Cirino, ...‏
Circulation 138 (14), 1387-1398, 2018‏
7012018
Withdrawal of pharmacological treatment for heart failure in patients with recovered dilated cardiomyopathy (TRED-HF): an open-label, pilot, randomised trial‏
BP Halliday, R Wassall, AS Lota, Z Khalique, J Gregson, S Newsome, ...‏
The Lancet 393 (10166), 61-73, 2019‏
6362019
Shared genetic predisposition in peripartum and dilated cardiomyopathies‏
JS Ware, J Li, E Mazaika, CM Yasso, T DeSouza, TP Cappola, EJ Tsai, ...‏
New England Journal of Medicine 374 (3), 233-241, 2016‏
5252016
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
5102015
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
4582017
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
3942019
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
3752021
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
3662018
An international, multicentered, evidence-based reappraisal of genes reported to cause congenital long QT syndrome‏
A Adler, V Novelli, AS Amin, E Abiusi, M Care, EA Nannenberg, ...‏
Circulation 141 (6), 418-428, 2020‏
3512020
Reappraisal of reported genes for sudden arrhythmic death: evidence-based evaluation of gene validity for Brugada syndrome‏
SM Hosseini, R Kim, S Udupa, G Costain, R Jobling, E Liston, SM Jamal, ...‏
Circulation 138 (12), 1195-1205, 2018‏
3302018
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
3302017
European heart rhythm association (EHRA)/heart rhythm society (HRS)/Asia pacific heart rhythm society (APHRS)/latin American heart rhythm society (LAHRS) expert consensus …‏
AAM Wilde, C Semsarian, MF Márquez, AS Shamloo, MJ Ackerman, ...‏
Europace 24 (8), 1307-1367, 2022‏
3072022
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
2982019
Utility of post-mortem genetic testing in cases of sudden arrhythmic death syndrome‏
N Lahrouchi, H Raju, EM Lodder, E Papatheodorou, JS Ware, ...‏
Journal of the American College of Cardiology 69 (17), 2134-2145, 2017‏
2852017
سیستم در حال حاضر قادر به انجام عملکرد نیست. بعداً دوباره امتحان کنید.
مقاله‌ها 1–20