Integration of genetic testing into diagnostic pathways for cardiomyopathies : a clinical consensus statement by the ESC Council on Cardiovascular Genomics

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European heart journal - ISSN 0195-668X- (2024) p.
Auteur(s)
    Perry Elliott, Heribert Schunkert, Antoine Bondue, Elijah Behr, Lucie Carrier, Cornelia Van Duijn, Pablo Garcia-Pavia, Pim van der Harst, Maryam Kavousi, Bart Loeys, Luis Rocha Lopes, Yigal Pinto, Alessandro Di Toro, Thomas Thum, Stefan Kaeaeb, Mario Urtis, Eloisa Arbustini

Interpretation and classification of FBN1 variants associated with Marfan syndrome : consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel

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Genome medicine - ISSN 1756-994X-16:1 (2024) p. 1-14
Auteur(s)
    A. Drackley, C. Somerville, P. Arnaud, L.M. Baudhuin, N. Hanna, M.L. Kluge, K. Kotzer, C. Boileau, L. Bronicki, B. Callewaert, A. Cecchi, H. Dietz, D. Guo, S. Harris, O. Jarinova, M. Lindsay, L. Little, Bart Loeys, G. Maccarrick, Josephina Meester, D. Milewicz, T. Morisaki, H. Morisaki, D. Murdock, M. Renard, J. Richer, L. Robert, M. Ouzounian, Lut Van Laer, J. De Backer, L. Muino-Mosquera

Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping

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Scientific reports - ISSN 2045-2322-14:1 (2024) p. 1-12
Auteur(s)
    Griet De Clercq, Lies Vantomme, Barbara Dewaele, Bert Callewaert, Olivier Vanakker, Sandra Janssens, Bart Loeys, Mojca Strazisar, Wouter De Coster, Joris Robert Vermeesch, Annelies Dheedene, Bjoern Menten

From silence to surge : illuminating the stealthy threat of aneurysms and dissections with the aid of cell models and insights into the genetic architecture

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Antwerp, University of Antwerp, Faculty of Medicine and Health Sciences, 2024,269 p.
Auteur(s)