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Page 1
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F, Tayal U, 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, Pantazis A, Roberts AM, Watkins H, Funke B, O'Regan DP, Olivotto I, Barton PJR, Prasad SK, Cook SA, Ware JS, Walsh R. Mazzarotto F, et al. Circulation. 2020 Feb 4;141(5):387-398. doi: 10.1161/CIRCULATIONAHA.119.037661. Epub 2020 Jan 27. Circulation. 2020. PMID: 31983221 Free PMC article.
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.
Allouba M, Walsh R, Afify A, Hosny M, Halawa S, Galal A, Fathy M, Theotokis PI, Boraey A, Ellithy A, Buchan R, Govind R, Whiffin N, Anwer S, ElGuindy A, Ware JS, Barton PJR, Yacoub M, Aguib Y. Allouba M, et al. Eur Heart J. 2023 Dec 21;44(48):5146-5158. doi: 10.1093/eurheartj/ehad372. Eur Heart J. 2023. PMID: 37431535 Free PMC article.
Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.
Lopez-Sainz A, Dominguez F, Lopes LR, Ochoa JP, Barriales-Villa R, Climent V, Linschoten M, Tiron C, Chiriatti C, Marques N, Rasmussen TB, Espinosa MÁ, Beinart R, Quarta G, Cesar S, Field E, Garcia-Pinilla JM, Bilinska Z, Muir AR, Roberts AM, Santas E, Zorio E, Peña-Peña ML, Navarro M, Fernandez A, Palomino-Doza J, Azevedo O, Lorenzini M, García-Álvarez MI, Bento D, Jensen MK, Méndez I, Pezzoli L, Sarquella-Brugada G, Campuzano O, Gonzalez-Lopez E, Mogensen J, Kaski JP, Arad M, Brugada R, Asselbergs FW, Monserrat L, Olivotto I, Elliott PM, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. Lopez-Sainz A, et al. J Am Coll Cardiol. 2020 Jul 14;76(2):186-197. doi: 10.1016/j.jacc.2020.05.029. J Am Coll Cardiol. 2020. PMID: 32646569 Free article.
Genetic Etiology for Alcohol-Induced Cardiac Toxicity.
Ware JS, Amor-Salamanca A, Tayal U, Govind R, Serrano I, Salazar-Mendiguchía J, García-Pinilla JM, Pascual-Figal DA, Nuñez J, Guzzo-Merello G, Gonzalez-Vioque E, Bardaji A, Manito N, López-Garrido MA, Padron-Barthe L, Edwards E, Whiffin N, Walsh R, Buchan RJ, Midwinter W, Wilk A, Prasad S, Pantazis A, Baski J, O'Regan DP, Alonso-Pulpon L, Cook SA, Lara-Pezzi E, Barton PJ, Garcia-Pavia P. Ware JS, et al. J Am Coll Cardiol. 2018 May 22;71(20):2293-2302. doi: 10.1016/j.jacc.2018.03.462. J Am Coll Cardiol. 2018. PMID: 29773157 Free PMC article.
Genetic Variants Associated With Cancer Therapy-Induced Cardiomyopathy.
Garcia-Pavia P, Kim Y, Restrepo-Cordoba MA, Lunde IG, Wakimoto H, Smith AM, Toepfer CN, Getz K, Gorham J, Patel P, Ito K, Willcox JA, Arany Z, Li J, Owens AT, Govind R, Nuñez B, Mazaika E, Bayes-Genis A, Walsh R, Finkelman B, Lupon J, Whiffin N, Serrano I, Midwinter W, Wilk A, Bardaji A, Ingold N, Buchan R, Tayal U, Pascual-Figal DA, de Marvao A, Ahmad M, Garcia-Pinilla JM, Pantazis A, Dominguez F, John Baksi A, O'Regan DP, Rosen SD, Prasad SK, Lara-Pezzi E, Provencio M, Lyon AR, Alonso-Pulpon L, Cook SA, DePalma SR, Barton PJR, Aplenc R, Seidman JG, Ky B, Ware JS, Seidman CE. Garcia-Pavia P, et al. Circulation. 2019 Jul 2;140(1):31-41. doi: 10.1161/CIRCULATIONAHA.118.037934. Epub 2019 Apr 16. Circulation. 2019. PMID: 30987448 Free PMC article.
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.
Walsh R, Mazzarotto F, Whiffin N, Buchan R, Midwinter W, Wilk A, Li N, Felkin L, Ingold N, Govind R, Ahmad M, Mazaika E, Allouba M, Zhang X, de Marvao A, Day SM, Ashley E, Colan SD, Michels M, Pereira AC, Jacoby D, Ho CY, Thomson KL, Watkins H, Barton PJR, Olivotto I, Cook SA, Ware JS. Walsh R, et al. Genome Med. 2019 Jan 29;11(1):5. doi: 10.1186/s13073-019-0616-z. Genome Med. 2019. PMID: 30696458 Free PMC article.
CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.
Whiffin N, Walsh R, Govind R, Edwards M, Ahmad M, Zhang X, Tayal U, Buchan R, Midwinter W, Wilk AE, Najgebauer H, Francis C, Wilkinson S, Monk T, Brett L, O'Regan DP, Prasad SK, Morris-Rosendahl DJ, Barton PJR, Edwards E, Ware JS, Cook SA. Whiffin N, et al. Genet Med. 2018 Oct;20(10):1246-1254. doi: 10.1038/gim.2017.258. Epub 2018 Jan 25. Genet Med. 2018. PMID: 29369293 Free PMC article.
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.
Whiffin N, Karczewski KJ, Zhang X, Chothani S, Smith MJ, Evans DG, Roberts AM, Quaife NM, Schafer S, Rackham O, Alföldi J, O'Donnell-Luria AH, Francioli LC; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Cook SA, Barton PJR, MacArthur DG, Ware JS. Whiffin N, et al. Nat Commun. 2020 May 27;11(1):2523. doi: 10.1038/s41467-019-10717-9. Nat Commun. 2020. PMID: 32461616 Free PMC article.