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221 results

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Page 1
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Cipriani V, Vestito L, Magavern EF, Jacobsen JO, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon P, Costa M, Davidson AE, Dawson SJ, Elhassan E, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison H, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong AC, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D. Cipriani V, et al. Among authors: ware js. medRxiv [Preprint]. 2023 Dec 21:2023.12.20.23300294. doi: 10.1101/2023.12.20.23300294. medRxiv. 2023. Update in: Nature. 2025 Feb 26. doi: 10.1038/s41586-025-08623-w. PMID: 38196618 Free PMC article. Updated. Preprint.
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS, Roberts AM, Theotokis P, Walsh R, Ostrowski PJ, Edwards M, Fleming A, Thaxton C, Roberts JD, Care M, Zareba W, Adler A, Sturm AC, Tadros R, Novelli V, Owens E, Bronicki L, Jarinova O, Callewaert B, Peters S, Lumbers T, Jordan E, Asatryan B, Krishnan N, Hershberger RE, Chahal CAA, Landstrom AP, James C, McNally EM, Judge DP, van Tintelen P, Wilde A, Gollob M, Ingles J, Ware JS. Josephs KS, et al. Among authors: ware js. medRxiv [Preprint]. 2023 Apr 3:2023.04.03.23287612. doi: 10.1101/2023.04.03.23287612. medRxiv. 2023. Update in: Genome Med. 2023 Oct 23;15(1):86. doi: 10.1186/s13073-023-01246-8. PMID: 37066275 Free PMC article. Updated. Preprint.
A double-blind, randomised placebo-controlled trial examining the effect of MitoQ on myocardial energetics in patients with dilated cardiomyopathy.
Halliday BP, Owen R, Ragavan A, Smith KL, Statton B, Berry A, Kasiakogias A, Tsoumani Z, Shanmugnathan M, Dungu JN, de Marvao A, Tayal U, Ware JS, O'Regan DP, Pennell DJ, Cleland JGF, Prasad SK, Gregson J, Murphy MP, Rider O, Valkovič L. Halliday BP, et al. Among authors: ware js. Eur Heart J Cardiovasc Imaging. 2025 Nov 10:jeaf310. doi: 10.1093/ehjci/jeaf310. Online ahead of print. Eur Heart J Cardiovasc Imaging. 2025. PMID: 41212826 No abstract available.
Unsupervised feature extraction using deep learning empowers discovery of genetic determinants of the electrocardiogram.
Sieliwonczyk E, Sau A, Patlatzoglou K, McGurk KA, Pastika L, Thami PK, Mangino M, Zheng SL, Powell G, Curran L, Buchan RJ, Theotokis P, Peters NS, Loeys B, Kramer DB, Waks JW, Ng FS, Ware JS. Sieliwonczyk E, et al. Among authors: ware js. Genome Med. 2025 Oct 9;17(1):118. doi: 10.1186/s13073-025-01510-z. Genome Med. 2025. PMID: 41068971 Free PMC article.
Fibrosis Entropy Is Associated With Life-Threatening Arrhythmia in Nonischemic Cardiomyopathy.
Hammersley DJ, Zaidi HA, Jones RE, Hatipoglu S, Androulakis E, Balaban G, Mach L, Lota AS, Khalique Z, De Marvao A, Lopuszko A, Lazzari L, Ravendren A, Gulati A, Baruah R, Guha K, Tayal U, Leyva F, Baksi AJ, Ware JS, Lamata P, Pennell DJ, Halliday BP, Bishop MJ, Prasad SK. Hammersley DJ, et al. Among authors: ware js. J Am Heart Assoc. 2025 Sep 16;14(18):e040517. doi: 10.1161/JAHA.124.040517. Epub 2025 Sep 11. J Am Heart Assoc. 2025. PMID: 40932094 Free PMC article.
Electromechanically Optimized Right Ventricular Pacing for Obstructive Hypertrophic Cardiomyopathy: The EMORI-HCM Trial.
Mohal JS, Whinnett ZI, Mohiddin SA, Malcolmson J, Elliott P, Ormerod JOM, Prasad S, Ware JS, Cooper RM, Tanner MA, Khalique Z, Shah JS, Keene D, Tangkongpanich P, Lewis EC, Sharma C, Reddy RK, Naraen A, Saleh K, Samways JW, Howard JP, Artico J, Kanagaratnam P, Francis DP, Al-Lamee RK, Varnava A, Shun-Shin MJ, Arnold AD. Mohal JS, et al. Among authors: ware js. J Am Coll Cardiol. 2025 Aug 31:S0735-1097(25)07558-8. doi: 10.1016/j.jacc.2025.08.050. Online ahead of print. J Am Coll Cardiol. 2025. PMID: 40892619
221 results