Sledovat
James S. Ware
James S. Ware
Professor of Cardiovascular and Genomic Medicine, Imperial College London
E-mailová adresa ověřena na: imperial.ac.uk - Domovská stránka
Název
Citace
Citace
Rok
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
107212016
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
83562020
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
11832019
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
10882023
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
8382015
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
7372017
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
6902018
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
6432019
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
5222016
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
5062015
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
4592017
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
3692021
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
3502020
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
3262017
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
2992022
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
2942019
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
2812017
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Články 1–20