Head of the Cardiovascular Genomics and Precision Medicine Research Group
We aim to understand the genetic basis of cardiovascular disease in order to both reveal disease mechanisms, thereby identifying new therapeutic targets, and to interpret genomic information for application in patient care.
Whiffin N, Karczewski KJ, Zhang X, Chothani S, Smith MJ, Evans DG, Roberts AM, Quaife NM, Schafer S, Rackham O, Alfoldi J, O’Donnell-Luria AH, Franciolo LC, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Cook SA, Barton PJR, MacArthur DG, Ware JS. (2020). Characterising the loss-of-function impact of 5′ untranslated region variants in 15,708 individuals. Nature Communications, 11, 2523.
Mazzarotto F, Taya Ul, Buchan RJ, Midwinter W, Wilk A, Whiffin N, Govind R, Mazaika E, de Marvao A, Dawes TJW, Felkin LE, Ahmad M, Theotokis PI, Edwards E, Ing AY, Thomson KL, Chan LLH, Sim D, Baksi AJ, Pantazi As, Roberts AM, Watkins H, Funke B, O’Regan DP, Olivotto I, Barton PJR, Prasad SK, Cook SA, Ware JS, Walsh R. (2020). Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy. Circulation, 141:387–398
Meyer HV, Dawes TJW, Serrani M, Bai W, Tokarczuk P, Cai J, de Marvao A, Henry A, Lumbers RT, Gierten J, Thumberger T, Wittbrodt J, Ware JS, Rueckert D, Matthews PM, Prasad SK, Costantino ML, Cook SA, Birney E, O’Regan DP. (2020). Genetic and functional insights into the fractal structure of the heart. Nature, 584; 589–594.
Karczewski KJ, Franciolo LC, Tiao G, [63 authors], Daly MJ, MacArthur DG. (2020). The mutational constraint spectrum quantified from variation in 141,456 humans. Nature, 581, 434–443.
Garcia-Pavia P, Kim Y, Restrepo-Cordoba MA, [47 authors], Ware JS, Seidman CE. (2019). Genetic Variants Associated With Cancer Therapy–Induced Cardiomyopathy. Circulation, 140:31–41.
Ware JS, Amor-Salamanca A, [26 authors], Barton PJ, Garcia-Pavia P. (2018). Genetic Etiology for Alcohol-Induced Cardiac Toxicity, Journal of the American College of Cardiology, 71 (20), 2293-2302.
Ware JS, Cook SA. (2018). Titin cardiomyopathy: from DNA variant to patient stratification, Nature Review Cardiology (invited review) 15(4), 241. 10.1038/nrcardio.2017.190.
Walsh R, Buchan R, Wilk A, John S, Felkin LE, Thomson KL, Chiaw TH, Loong CCW, Pua CJ, Raphael C, Prasad S, Barton PJ, Funke B, Watkins H, Ware JS, Cook SA. (2017). Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcometric genes, European Heart Journal, 38(42) 3119-3121.
Whiffin N, Minikel E, Walsh R, O’Donnell-Luria AH, Karczewski K, Ing AY, Barton PJR, Funke B, Cook SA, MacArthur DG, Ware JS. (2017). Using high-resolution variant frequencies to empower clinical genome interpretation. Genet Med 19, 1151.
Schafer S, de Marvao A, [32 authors], Ware JS (joint senior), Hubner N, Cook SA. (2017). Titin truncating variants affect heart function in disease cohorts and the general population. Nature Genetics 49, 46.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O’Donnell-Luria AH, Ware JS, [69 authors], Daly MJ, MacArthur DG, Exome Aggregation Consortium. (2016). Analysis of protein-coding genetic variation in 60,706 humans. Nature 536, 285.
Ware JS, Li J, Mazaika E, [29 authors], Seidman CS, Seidman JG, Arany Z. (2016). Shared genetic predisposition in peripartum and dilated cardiomyopathies. New England Journal of Medicine 374, 233.
Homsy J, Zaidi S, Shen Y, Ware JS (joint first author), [35 authors], Seidman C, Chung W. (2015). Genetic Causes for Congenital Heart Disease with Neurodevelopmental and other Deficits. Science 350, 1262.
