A Genotype-phenotype Taxonomy of Hypertrophic Cardiomyopathy

Autor: Lara Curran, BSc, Antonio De Marvao, PhD, Paolo Inglese, PhD, Kathryn McGurk, PhD, Adam Clement, PhD, Sean Zheng, Surui Li, PhD, Chee Jian Pua, BSc, Mit Shah, Mina Jafari, PhD, Pantazis Theotokis, PhD, Rachel Buchan, Sean Jurgens, Claire Raphael, PhD, John Baksi, PhD, Antonis Pantazis, PhD, Brian Halliday, PhD, Dudley Pennell, MD, PhD, Wenjia Bai, PhD, Calvin Chin, MD, PhD, Rafik Tadros, PhD, Connie Bezzina, PhD, Hugh Watkins, PhD, Stuart Cook, PhD, Sanjay Prasad, James Ware, PhD, Declan O'Regan, PhD

Publikováno v: Journal of Cardiovascular Magnetic Resonance, Vol 26, Iss , Pp 100168- (2024)

Externí odkaz: https://doaj.org/article/436056cfa5134bd4bec362e828088d5d

First Steps of Population Genomic Medicine in the Arrhythmia World

Autor: Roddy Walsh, Connie Bezzina, Arthur A.M. Wilde

Publikováno v: Circulation. 145(12):892-895

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0061b8798b0a4ceb35d2f24ad33f850e
http://www.scopus.com/inward/record.url?scp=85126845256&partnerID=8YFLogxK

A deep learning approach identifies new ECG features in congenital long QT syndrome

Autor: Simona Aufiero, Hidde Bleijendaal, Tomas Robyns, Bert Vandenberk, Christian Krijger, Connie Bezzina, Aeilko H. Zwinderman, Arthur A. M. Wilde, Yigal M. Pinto

Publikováno v: BMC medicine, 20(1):162. BioMed Central

Background Congenital long QT syndrome (LQTS) is a rare heart disease caused by various underlying mutations. Most general cardiologists do not routinely see patients with congenital LQTS and may not always recognize the accompanying ECG features. In

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d89d1e1d7c934fa5d226b5cd392bc424
https://pubmed.ncbi.nlm.nih.gov/35501785

Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot

Autor: Donna J. Page, Matthieu J. Miossec, Simon G. Williams, Elisavet Fotiou, Richard M. Monaghan, Heather J. Cordell, Louise Sutcliffe, Ana Topf, Mathieu Bourgey, Guillaume Bourque, Robert Eveleigh, Sally L. Dunwoodie, David S. Winlaw, Shoumo Bhattacharya, Jeroen Breckpot, Koenraad Devriendt, Marc Gewillig, David Brook, Kerry Setchfield, Frances A. Bu’Lock, John O’Sullivan, Graham Stuart, Connie Bezzina, Barbara J.M. Mulder, Alex V. Postma, James R. Bentham, Martin Baron, Sanjeev S. Bhaskar, Graeme C. Black, William G. Newman, Kathryn E. Hentges, Mark Lathrop, Mauro Santibanez-Koref, Bernard D. Keavney

AimsFamilial recurrence studies provide strong evidence for a genetic component to the predisposition to sporadic, non-syndromic Tetralogy of Fallot (TOF), the most common cyanotic congenital heart disease (CHD) phenotype. Rare genetic variants have

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68be040d4834c06a04efd344c72ccb08

International Calmodulinopathy Registry (ICaMR)

Autor: Lia Crotti, Carla Spazzolini, Boczek, Nicole J., Juan Jimenez Jaimez, Naomasa Makita, David Tester, Etheridge, Susan P., Britt-Maria Beckmann, John Papagiannis, Webster, Gregory R., Najim Lahrouchi, Connie Bezzina, Minoru Horie, Mette Nyegaard, Rolf Bennhagen, Hamilton, Robert M., Arthur Wilde, George, Alfred L., Ackerman, Michael J., Schwartz, Peter J.

Publikováno v: Aalborg University
Crotti, L, Spazzolini, C, Boczek, N J, Jaimez, J J, Makita, N, Tester, D, Etheridge, S P, Beckmann, B-M, Papagiannis, J, Webster, G R, Lahrouchi, N, Bezzina, C, Horie, M, Nyegaard, M, Bennhagen, R, Hamilton, R M, Wilde, A, George, A L, Ackerman, M J & Schwartz, P J 2016, ' International Calmodulinopathy Registry (ICaMR) ' .
Aarhus University

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::69fcd45b6c8fd6ced8c5afa15e0f2a78
https://vbn.aau.dk/en/publications/25a4f7fb-6c97-49c7-9643-9db22aa1bb71