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2023 ESC Guidelines for the management of cardiomyopathies.
Arbelo E, Protonotarios A, Gimeno JR, Arbustini E, Barriales-Villa R, Basso C, Bezzina CR, Biagini E, Blom NA, de Boer RA, De Winter T, Elliott PM, Flather M, Garcia-Pavia P, Haugaa KH, Ingles J, Jurcut RO, Klaassen S, Limongelli G, Loeys B, Mogensen J, Olivotto I, Pantazis A, Sharma S, Van Tintelen JP, Ware JS, Kaski JP; ESC Scientific Document Group. Arbelo E, et al. Among authors: ingles j. Eur Heart J. 2023 Oct 1;44(37):3503-3626. doi: 10.1093/eurheartj/ehad194. Eur Heart J. 2023. PMID: 37622657 No abstract available.
New perspectives on the prevalence of hypertrophic cardiomyopathy.
Semsarian C, Ingles J, Maron MS, Maron BJ. Semsarian C, et al. Among authors: ingles j. J Am Coll Cardiol. 2015 Mar 31;65(12):1249-1254. doi: 10.1016/j.jacc.2015.01.019. J Am Coll Cardiol. 2015. PMID: 25814232 Free article. Review.
However, the authors have interrogated a number of relevant advances in cardiovascular medicine, including widespread fee-for-service genetic testing, population genetic studies, and contemporary diagnostic imaging, as well as a greater index of suspicion and recognition f …
However, the authors have interrogated a number of relevant advances in cardiovascular medicine, including widespread fee-for-service …
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Kelly MA, Caleshu C, Morales A, Buchan J, Wolf Z, Harrison SM, Cook S, Dillon MW, Garcia J, Haverfield E, Jongbloed JDH, Macaya D, Manrai A, Orland K, Richard G, Spoonamore K, Thomas M, Thomson K, Vincent LM, Walsh R, Watkins H, Whiffin N, Ingles J, van Tintelen JP, Semsarian C, Ware JS, Hershberger R, Funke B. Kelly MA, et al. Among authors: ingles j. Genet Med. 2018 Mar;20(3):351-359. doi: 10.1038/gim.2017.218. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300372 Free PMC article.
PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College of Medical Genetics and Genomics/Association for Mole …
PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clini …
Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Ellingford JM, Ahn JW, Bagnall RD, Baralle D, Barton S, Campbell C, Downes K, Ellard S, Duff-Farrier C, FitzPatrick DR, Greally JM, Ingles J, Krishnan N, Lord J, Martin HC, Newman WG, O'Donnell-Luria A, Ramsden SC, Rehm HL, Richardson E, Singer-Berk M, Taylor JC, Williams M, Wood JC, Wright CF, Harrison SM, Whiffin N. Ellingford JM, et al. Among authors: ingles j. Genome Med. 2022 Jul 19;14(1):73. doi: 10.1186/s13073-022-01073-3. Genome Med. 2022. PMID: 35850704 Free PMC article.
METHODS: We convened a panel of nine clinical and research scientists with wide-ranging expertise in clinical variant interpretation, with specific experience in variants within non-coding regions. ...
METHODS: We convened a panel of nine clinical and research scientists with wide-ranging expertise in clinical variant interpretati
The Lancet Commission to reduce the global burden of sudden cardiac death: a call for multidisciplinary action.
Marijon E, Narayanan K, Smith K, Barra S, Basso C, Blom MT, Crotti L, D'Avila A, Deo R, Dumas F, Dzudie A, Farrugia A, Greeley K, Hindricks G, Hua W, Ingles J, Iwami T, Junttila J, Koster RW, Le Polain De Waroux JB, Olasveengen TM, Ong MEH, Papadakis M, Sasson C, Shin SD, Tse HF, Tseng Z, Van Der Werf C, Folke F, Albert CM, Winkel BG. Marijon E, et al. Among authors: ingles j. Lancet. 2023 Sep 9;402(10405):883-936. doi: 10.1016/S0140-6736(23)00875-9. Epub 2023 Aug 27. Lancet. 2023. PMID: 37647926 Review.
Despite major advancements in cardiovascular medicine, sudden cardiac death (SCD) continues to be an enormous medical and societal challenge, claiming millions of lives every year. ...
Despite major advancements in cardiovascular medicine, sudden cardiac death (SCD) continues to be an enormous medical and societal ch …
A Prospective Study of Sudden Cardiac Death among Children and Young Adults.
Bagnall RD, Weintraub RG, Ingles J, Duflou J, Yeates L, Lam L, Davis AM, Thompson T, Connell V, Wallace J, Naylor C, Crawford J, Love DR, Hallam L, White J, Lawrence C, Lynch M, Morgan N, James P, du Sart D, Puranik R, Langlois N, Vohra J, Winship I, Atherton J, McGaughran J, Skinner JR, Semsarian C. Bagnall RD, et al. Among authors: ingles j. N Engl J Med. 2016 Jun 23;374(25):2441-52. doi: 10.1056/NEJMoa1510687. N Engl J Med. 2016. PMID: 27332903 Free article.
A clinically relevant cardiac gene mutation was identified in 31 of 113 cases (27%) of unexplained sudden cardiac death in which genetic testing was performed. During follow-up, a clinical diagnosis of an inherited cardiovascular disease was identified in 13% of the famili …
A clinically relevant cardiac gene mutation was identified in 31 of 113 cases (27%) of unexplained sudden cardiac death in which genetic tes …
Genetic Testing in Inherited Heart Diseases.
Ingles J, Macciocca I, Morales A, Thomson K. Ingles J, et al. Heart Lung Circ. 2020 Apr;29(4):505-511. doi: 10.1016/j.hlc.2019.10.014. Epub 2019 Nov 29. Heart Lung Circ. 2020. PMID: 31813745 Review.
Given the nuances and challenges, cardiac genetic testing is best performed in a multidisciplinary specialised clinic with access to cardiac genetic counselling....
Given the nuances and challenges, cardiac genetic testing is best performed in a multidisciplinary specialised clinic with access to cardiac …
Genetic Basis of Childhood Cardiomyopathy.
Bagnall RD, Singer ES, Wacker J, Nowak N, Ingles J, King I, Macciocca I, Crowe J, Ronan A, Weintraub RG, Semsarian C. Bagnall RD, et al. Among authors: ingles j. Circ Genom Precis Med. 2022 Dec;15(6):e003686. doi: 10.1161/CIRCGEN.121.003686. Epub 2022 Oct 11. Circ Genom Precis Med. 2022. PMID: 36252119 Free article.
We performed Sanger, gene panel, exome or genome sequencing and classified variants for pathogenicity using American College of Molecular Genetics and Genomics guidelines. RESULTS: Cardiomyopathy was diagnosed in 221 unrelated children aged 18 years. ...
We performed Sanger, gene panel, exome or genome sequencing and classified variants for pathogenicity using American College of Molecular Ge …
Genetic testing in cardiovascular disease.
Gray MP, Fatkin D, Ingles J, Robertson EN, Figtree GA. Gray MP, et al. Among authors: ingles j. Med J Aust. 2024 May 6;220(8):428-434. doi: 10.5694/mja2.52278. Epub 2024 Apr 4. Med J Aust. 2024. PMID: 38571440 Review.
Cardiovascular disease (CVD) is the leading cause of morbidity and mortality globally and is responsible for an estimated one-third of deaths as well as significant morbidity and health care utilisation. ...
Cardiovascular disease (CVD) is the leading cause of morbidity and mortality globally and is responsible for an estimated one-third o
The Need for Inclusive Genomic Research.
Krishnan N, Ingles J. Krishnan N, et al. Among authors: ingles j. Circ Genom Precis Med. 2022 Apr;15(2):e003736. doi: 10.1161/CIRCGEN.122.003736. Epub 2022 Mar 21. Circ Genom Precis Med. 2022. PMID: 35311525 No abstract available.
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