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Page 1
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.
Kerr SM, Klaric L, Muckian MD, Johnston K, Drake C, Halachev M, Cowan E, Snadden L, Dean J, Zheng SL, Thami PK, Ware JS, Tzoneva G, Shuldiner AR, Miedzybrodzka Z, Wilson JF. Kerr SM, et al. Among authors: ware js. Am J Hum Genet. 2025 Apr 3;112(4):793-807. doi: 10.1016/j.ajhg.2025.02.018. Epub 2025 Mar 14. Am J Hum Genet. 2025. PMID: 40088892 Free PMC article.
Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy.
de Marvao A, McGurk KA, Zheng SL, Thanaj M, Bai W, Duan J, Biffi C, Mazzarotto F, Statton B, Dawes TJW, Savioli N, Halliday BP, Xu X, Buchan RJ, Baksi AJ, Quinlan M, Tokarczuk P, Tayal U, Francis C, Whiffin N, Theotokis PI, Zhang X, Jang M, Berry A, Pantazis A, Barton PJR, Rueckert D, Prasad SK, Walsh R, Ho CY, Cook SA, Ware JS, O'Regan DP. de Marvao A, et al. Among authors: ware js. J Am Coll Cardiol. 2021 Sep 14;78(11):1097-1110. doi: 10.1016/j.jacc.2021.07.017. J Am Coll Cardiol. 2021. PMID: 34503678 Free PMC article.
Correspondence on "ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)" by Miller et al.
McGurk KA, Zheng SL, Henry A, Josephs K, Edwards M, de Marvao A, Whiffin N, Roberts A, Lumbers TR, O'Regan DP, Ware JS. McGurk KA, et al. Among authors: ware js. Genet Med. 2022 Mar;24(3):744-746. doi: 10.1016/j.gim.2021.10.020. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906520 Free article. No abstract available.
Environmental and genetic predictors of human cardiovascular ageing.
Shah M, de A Inácio MH, Lu C, Schiratti PR, Zheng SL, Clement A, de Marvao A, Bai W, King AP, Ware JS, Wilkins MR, Mielke J, Elci E, Kryukov I, McGurk KA, Bender C, Freitag DF, O'Regan DP. Shah M, et al. Among authors: ware js. Nat Commun. 2023 Aug 21;14(1):4941. doi: 10.1038/s41467-023-40566-6. Nat Commun. 2023. PMID: 37604819 Free PMC article.
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA, Zhang X, Theotokis P, Thomson K, Harper A, Buchan RJ, Mazaika E, Ormondroyd E, Wright WT, Macaya D, Pua CJ, Funke B, MacArthur DG, Prasad SK, Cook SA, Allouba M, Aguib Y, Yacoub MH, O'Regan DP, Barton PJR, Watkins H, Bottolo L, Ware JS. McGurk KA, et al. Among authors: ware js. Am J Hum Genet. 2023 Sep 7;110(9):1482-1495. doi: 10.1016/j.ajhg.2023.08.003. Epub 2023 Aug 30. Am J Hum Genet. 2023. PMID: 37652022 Free PMC article.
Biallelic Loss of Function Variants in Myocardial Zonula Adherens Protein Gene (MYZAP) Cause a Severe Recessive Form of Dilated Cardiomyopathy.
Ochoa JP, Lalaguna L, Mirelis JG, Dominguez F, Gonzalez-Lopez E, Salas C, Roustan G, McGurk KA, Zheng SL, Barton PJR, Ware JS, Gómez-Gaviro MV, Lara-Pezzi E, Garcia-Pavia P. Ochoa JP, et al. Among authors: ware js. Circ Heart Fail. 2024 Mar;17(3):e011226. doi: 10.1161/CIRCHEARTFAILURE.123.011226. Epub 2024 Mar 4. Circ Heart Fail. 2024. PMID: 38436102 Free PMC article. No abstract available.
Genetic and phenotypic architecture of human myocardial trabeculation.
McGurk KA, Qiao M, Zheng SL, Sau A, Henry A, Ribeiro ALP, Ribeiro AH, Ng FS, Lumbers RT, Bai W, Ware JS, O'Regan DP. McGurk KA, et al. Among authors: ware js. Nat Cardiovasc Res. 2024 Dec;3(12):1503-1515. doi: 10.1038/s44161-024-00564-3. Epub 2024 Nov 20. Nat Cardiovasc Res. 2024. PMID: 39567769 Free PMC article.
Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy.
Zheng SL, Henry A, Cannie D, Lee M, Miller D, McGurk KA, Bond I, Xu X, Issa H, Francis C, De Marvao A, Theotokis PI, Buchan RJ, Speed D, Abner E, Adams L, Aragam KG, Ärnlöv J, Raja AA, Backman JD, Baksi J, Barton PJR, Biddinger KJ, Boersma E, Brandimarto J, Brunak S, Bundgaard H, Carey DJ, Charron P, Cook JP, Cook SA, Denaxas S, Deleuze JF, Doney AS, Elliott P, Erikstrup C, Esko T, Farber-Eger EH, Finan C, Garnier S, Ghouse J, Giedraitis V, Guðbjartsson DF, Haggerty CM, Halliday BP, Helgadottir A, Hemingway H, Hillege HL, Kardys I, Lind L, Lindgren CM, Lowery BD, Manisty C, Margulies KB, Moon JC, Mordi IR, Morley MP, Morris AD, Morris AP, Morton L, Noursadeghi M, Ostrowski SR, Owens AT, Palmer CNA, Pantazis A, Pedersen OBV, Prasad SK, Shekhar A, Smelser DT, Srinivasan S, Stefansson K, Sveinbjörnsson G, Syrris P, Tammesoo ML, Tayal U, Teder-Laving M, Thorgeirsson G, Thorsteinsdottir U, Tragante V, Trégouët DA, Treibel TA, Ullum H, Valdes AM, van Setten J, van Vugt M, Veluchamy A, Verschuren WMM, Villard E, Yang Y; COVIDsortium; DBDS Genomic Consortium; Estonian Biobank Research Team; HERMES Consortium; Asselbergs FW, Cappola TP, Dube MP, Dunn ME, Ellinor PT, Hingorani AD, Lang CC, … See abstract for full author list ➔ Zheng SL, et al. Among authors: ware js. Nat Genet. 2024 Dec;56(12):2646-2658. doi: 10.1038/s41588-024-01952-y. Epub 2024 Nov 21. Nat Genet. 2024. PMID: 39572783 Free PMC article.
Evaluation of polygenic scores for hypertrophic cardiomyopathy in the general population and across clinical settings.
Zheng SL, Jurgens SJ, McGurk KA, Xu X, Grace C, Theotokis PI, Buchan RJ, Francis C, de Marvao A, Curran L, Bai W, Pua CJ, Tang HC, Jorda P, van Slegtenhorst MA, Verhagen JMA, Harper AR, Ormondroyd E, Chin CWL; HCM GWAS Collaborators; Pantazis A, Baksi J, Halliday BP, Matthews P, Pinto YM, Walsh R, Amin AS, Wilde AAM, Cook SA, Prasad SK, Barton PJR, O'Regan DP, Lumbers RT, Goel A, Tadros R, Michels M, Watkins H, Bezzina CR, Ware JS. Zheng SL, et al. Among authors: ware js. Nat Genet. 2025 Mar;57(3):563-571. doi: 10.1038/s41588-025-02094-5. Epub 2025 Feb 18. Nat Genet. 2025. PMID: 39966645 Free PMC article.
Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.
Tadros R, Zheng SL, Grace C, Jordà P, Francis C, West DM, Jurgens SJ, Thomson KL, Harper AR, Ormondroyd E, Xu X, Theotokis PI, Buchan RJ, McGurk KA, Mazzarotto F, Boschi B, Pelo E, Lee M, Noseda M, Varnava A, Vermeer AMC, Walsh R, Amin AS, van Slegtenhorst MA, Roslin NM, Strug LJ, Salvi E, Lanzani C, de Marvao A; Hypergenes InterOmics Collaborators; Roberts JD, Tremblay-Gravel M, Giraldeau G, Cadrin-Tourigny J, L'Allier PL, Garceau P, Talajic M, Gagliano Taliun SA, Pinto YM, Rakowski H, Pantazis A, Bai W, Baksi J, Halliday BP, Prasad SK, Barton PJR, O'Regan DP, Cook SA, de Boer RA, Christiaans I, Michels M, Kramer CM, Ho CY, Neubauer S; HCMR Investigators; Matthews PM, Wilde AAM, Tardif JC, Olivotto I, Adler A, Goel A, Ware JS, Bezzina CR, Watkins H. Tadros R, et al. Among authors: ware js. Nat Genet. 2025 Mar;57(3):530-538. doi: 10.1038/s41588-025-02087-4. Epub 2025 Feb 18. Nat Genet. 2025. PMID: 39966646 Free PMC article.
213 results