Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Autor: Katherine S. Josephs, Angharad M. Roberts, Pantazis Theotokis, Roddy Walsh, Philip J. Ostrowski, Matthew Edwards, Andrew Fleming, Courtney Thaxton, Jason D. Roberts, Melanie Care, Wojciech Zareba, Arnon Adler, Amy C. Sturm, Rafik Tadros, Valeria Novelli, Emma Owens, Lucas Bronicki, Olga Jarinova, Bert Callewaert, Stacey Peters, Tom Lumbers, Elizabeth Jordan, Babken Asatryan, Neesha Krishnan, Ray E. Hershberger, C. Anwar A. Chahal, Andrew P. Landstrom, Cynthia James, Elizabeth M. McNally, Daniel P. Judge, Peter van Tintelen, Arthur Wilde, Michael Gollob, Jodie Ingles, James S. Ware

Publikováno v: Genome Medicine, Vol 15, Iss 1, Pp 1-15 (2023)

Abstract Background As the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in

Externí odkaz: https://doaj.org/article/b19fec6981b54abc9f8f6edd48178160

Genome-wide association studies of cardiovascular disease

Autor: Roddy Walsh, Sean J. Jurgens, Jeanette Erdmann, Connie R. Bezzina

Publikováno v: Physiological reviews. 103(3):2039-2055

Genome-wide association studies (GWAS) aim to identify common genetic variants that are associated with traits and diseases. Since 2005, more than 5,000 GWAS have been published for almost as many traits. These studies have offered insights into the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0554062b68902e4853087075af92a32
http://www.scopus.com/inward/record.url?scp=85152977178&partnerID=8YFLogxK

Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing?

Autor: Francesco Mazzarotto, Iacopo Olivotto, Beatrice Boschi, Francesca Girolami, Corrado Poggesi, Paul J. R. Barton, Roddy Walsh

Publikováno v: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 9, Iss 8 (2020)

Abstract Genetic testing for hypertrophic cardiomyopathy (HCM) is an established clinical technique, supported by 30 years of research into its genetic etiology. Although pathogenic variants are often detected in patients and used to identify at‐ri

Externí odkaz: https://doaj.org/article/b884d942541041a89eac8d3be5f77b5f

Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Autor: Katherine S Josephs, Angharad M Roberts, Pantazis Theotokis, Roddy Walsh, Philip J Ostrowski, Matthew Edwards, Andrew Fleming, Courtney Thaxton, Jason D Roberts, Melanie Care, Wojciech Zareba, Arnon Adler, Amy C Sturm, Rafik Tadros, Valeria Novelli, Emma Owens, Lucas Bronicki, Olga Jarinova, Bert Callewaert, Stacey Peters, Tom Lumbers, Elizabeth Jordan, Babken Asatryan, Neesha Krishnan, Ray E Hershberger, C. Anwar A. Chahal, Andrew P. Landstrom, Cynthia James, Elizabeth M McNally, Daniel P Judge, Peter van Tintelen, Arthur Wilde, Michael Gollob, Jodie Ingles, James S Ware

BackgroundAs availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in inherited card

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::502d4033679b4a938e71105a442ecd3f
https://doi.org/10.1101/2023.04.03.23287612

Targeted therapies in genetic dilated and hypertrophic cardiomyopathies: from molecular mechanisms to therapeutic targets. A position paper from the Heart Failure Association (HFA) and the Working Group on Myocardial Function of the European Society of Cardiology (ESC)

Autor: Rudolf A. de Boer, Stephane Heymans, Johannes Backs, Lucie Carrier, Andrew J.S. Coats, Stefanie Dimmeler, Thomas Eschenhagen, Gerasimos Filippatos, Lior Gepstein, Jean‐Sebastien Hulot, Ralph Knöll, Christian Kupatt, Wolfgang A. Linke, Christine E. Seidman, C. Gabriele Tocchetti, Jolanda van der Velden, Roddy Walsh, Petar M. Seferovic, Thomas Thum

Publikováno v: European journal of heart failure, 24(3), 406-420. Wiley
European Journal of Heart Failure
European Journal of Heart Failure, 2022, 24 (3), pp.406-420. ⟨10.1002/ejhf.2414⟩
de Boer, R A, Heymans, S, Backs, J, Carrier, L, Coats, A J S, Dimmeler, S, Eschenhagen, T, Filippatos, G, Gepstein, L, Hulot, J-S, Knöll, R, Kupatt, C, Linke, W A, Seidman, C E, Tocchetti, C G, van der Velden, J, Walsh, R, Seferovic, P M & Thum, T 2022, ' Targeted therapies in genetic dilated and hypertrophic cardiomyopathies : from molecular mechanisms to therapeutic targets. A position paper from the Heart Failure Association (HFA) and the Working Group on Myocardial Function of the European Society of Cardiology (ESC) ', European Journal of Heart Failure, vol. 24, no. 3, pp. 406-420 . https://doi.org/10.1002/ejhf.2414
European journal of heart failure, 24(3), 406-420. Wiley-Blackwell
European Journal of Heart Failure, 24(3), 406-420. Wiley
European Journal of Heart Failure, 24(3), 406-420. Wiley-Blackwell

Genetic cardiomyopathies are disorders of the cardiac muscle, most often explained by pathogenic mutations in genes encoding sarcomere, cytoskeleton, or ion channel proteins. Clinical phenotypes such as heart failure and arrhythmia are classically tr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f1f9fce02fabdcd36fe12609f03076e
https://cris.maastrichtuniversity.nl/en/publications/d37e03d3-cb6c-44cd-80fa-5f8c1140a9b6