Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2020 2
2021 4
2022 3
2023 4
2024 2

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

12 results

Results by year

Filters applied: . Clear all
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.
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.
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.
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Roberts AM, DiStefano MT, Riggs ER, Josephs KS, Alkuraya FS, Amberger J, Amin M, Berg JS, Cunningham F, Eilbeck K, Firth HV, Foreman J, Hamosh A, Hay E, Leigh S, Martin CL, McDonagh EM, Perrett D, Ramos EM, Robinson PN, Rath A, Sant DW, Stark Z, Whiffin N, Rehm HL, Ware JS. Roberts AM, et al. Genet Med. 2024 Feb;26(2):101029. doi: 10.1016/j.gim.2023.101029. Epub 2023 Nov 17. Genet Med. 2024. PMID: 37982373 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.
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.
Walsh R, Adler A, Amin AS, Abiusi E, Care M, Bikker H, Amenta S, Feilotter H, Nannenberg EA, Mazzarotto F, Trevisan V, Garcia J, Hershberger RE, Perez MV, Sturm AC, Ware JS, Zareba W, Novelli V, Wilde AAM, Gollob MH. Walsh R, et al. Eur Heart J. 2022 Apr 14;43(15):1500-1510. doi: 10.1093/eurheartj/ehab687. Eur Heart J. 2022. PMID: 34557911 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. 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.
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions.
Zhang X, Walsh R, Whiffin N, Buchan R, Midwinter W, Wilk A, Govind R, Li N, Ahmad M, Mazzarotto F, Roberts A, Theotokis PI, Mazaika E, Allouba M, de Marvao A, Pua CJ, Day SM, Ashley E, Colan SD, Michels M, Pereira AC, Jacoby D, Ho CY, Olivotto I, Gunnarsson GT, Jefferies JL, Semsarian C, Ingles J, O'Regan DP, Aguib Y, Yacoub MH, Cook SA, Barton PJR, Bottolo L, Ware JS. Zhang X, et al. Genet Med. 2021 Jan;23(1):69-79. doi: 10.1038/s41436-020-00972-3. Epub 2020 Oct 13. Genet Med. 2021. PMID: 33046849 Free PMC article.
12 results