Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies

Abstract Background Recent advances in sequencing technologies have enhanced patient diagnosis; however, causal pathogenic variants remain unidentified for a significant number of patients due to limited understanding of certain variants, regulatory sequences, or sequencing challenges, such as compl...

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Główni autorzy:	Amandine Santini, Angelo Tognon, Anne-Claire Richard, Guillaume Velasco, Gilles Phan, Pauline Marzin, Fabien Maury, Angele May, Caroline Michot, Adela Chirita-Emandi, Jorge M. Saraiva, Maria Juliana Ballesta-Martinez, Stanislas Lyonnet, Ivona Sansović, Tahsin Stefan Barakat, Perrine Brunelle, Jamal Ghoumid, Xavier Le Guillou, Pauline Le Tanno, Marjolaine Willems, Martin Zenker, Ina Schanze, Stéphanie Moortgat, Bertrand Isidor, Alix Paulet, Alison Yeung, Jonathan Levy, Federica Ruscitti, Leticia Pias-Peleteiro, Marlène Rio, Thomas Courtin, Hamza Hadj Abdallah, Stéphanie Ducreux, Jean-Sérène Laloy, Paul Rollier, Anne-Marie Guerrot, Nicolas Chatron, Florence Demurger, Alice Goldenberg, Julian Delanne, Laurence Faivre, François Lecoquierre, Gaël Nicolas, Aurélie Coussement, Corinne Collet, Yvan Herenger, Matthieu Defrance, Valérie Cormier-Daire, Camille Charbonnier, Maud de Dieuleveult
Format:	Artigo
Język:	Inglês
Wydane:	BMC 2026-04-01
Seria:	Genome Medicine
Hasła przedmiotowe:	Rare Diseases CHD3 Episignature DNA methylation Snijders Blok-Campeau syndrome
Dostęp online:	https://doi.org/10.1186/s13073-026-01639-5
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