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Year Number of Results
2017 4
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2019 5
2020 11
2021 15
2022 6
2023 4
2024 0

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45 results

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Page 1
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. Genome Med. 2023 Oct 23;15(1):86. doi: 10.1186/s13073-023-01246-8. Genome Med. 2023. PMID: 37872640 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. 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.
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.
Precision Phenotyping of Dilated Cardiomyopathy Using Multidimensional Data.
Tayal U, Verdonschot JAJ, Hazebroek MR, Howard J, Gregson J, Newsome S, Gulati A, Pua CJ, Halliday BP, Lota AS, Buchan RJ, Whiffin N, Kanapeckaite L, Baruah R, Jarman JWE, O'Regan DP, Barton PJR, Ware JS, Pennell DJ, Adriaans BP, Bekkers SCAM, Donovan J, Frenneaux M, Cooper LT, Januzzi JL Jr, Cleland JGF, Cook SA, Deo RC, Heymans SRB, Prasad SK. Tayal U, et al. J Am Coll Cardiol. 2022 Jun 7;79(22):2219-2232. doi: 10.1016/j.jacc.2022.03.375. J Am Coll Cardiol. 2022. PMID: 35654493 Free PMC article.
Direct and indirect effect of the COVID-19 pandemic on patients with cardiomyopathy.
Hammersley DJ, Buchan RJ, Lota AS, Mach L, Jones RE, Halliday BP, Tayal U, Meena D, Dehghan A, Tzoulaki I, Baksi AJ, Pantazis A, Roberts AM, Prasad SK, Ware JS. Hammersley DJ, et al. Open Heart. 2022 Jan;9(1):e001918. doi: 10.1136/openhrt-2021-001918. Open Heart. 2022. PMID: 35086919 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. 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.
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Garrett A, Loveday C, King L, Butler S, Robinson R, Horton C, Yussuf A, Choi S, Torr B, Durkie M, Burghel GJ, Drummond J, Berry I, Wallace A, Callaway A, Eccles D, Tischkowitz M, Tatton-Brown K, Snape K, McVeigh T, Izatt L, Woodward ER, Burnichon N, Gimenez-Roqueplo AP, Mazzarotto F, Whiffin N, Ware J, Hanson H, Pesaran T, LaDuca H, Buffet A, Maher ER, Turnbull C; Cancer Variant Interpretation Group UK (CanVIG-UK). Garrett A, et al. Genet Med. 2022 Jan;24(1):41-50. doi: 10.1016/j.gim.2021.08.004. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906457 Free PMC article.
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L, Cubuk C, Choi S, Allen S, Torr B, Garrett A, Loveday C, Durkie M, Callaway A, Burghel GJ, Drummond J, Robinson R, Berry IR, Wallace A, Eccles DM, Tischkowitz M, Ellard S, Ware JS, Hanson H, Turnbull C; CanVIG-UK. Loong L, et al. Genet Med. 2022 Mar;24(3):552-563. doi: 10.1016/j.gim.2021.11.011. Epub 2021 Nov 18. Genet Med. 2022. PMID: 34906453 Free PMC article.
45 results