Article
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.
Genome medicine - 8 Apr 2026
Santini Amandine, Tognon Angelo, Richard Anne-Claire, Velasco Guillaume, Phan Gilles, Marzin Pauline, Maury Fabien, May Angele, Michot Caroline, Chirita-Emandi Adela, Saraiva Jorge M, Ballesta-Martinez Maria Juliana, Lyonnet Stanislas, Sansović Ivona, Barakat Tahsin Stefan, Brunelle Perrine, Ghoumid Jamal, Le Guillou Xavier, Le Tanno Pauline, Willems Marjolaine, Zenker Martin, Schanze Ina, Moortgat Stéphanie, Isidor Bertrand, Paulet Alix, Yeung Alison, Levy Jonathan, Ruscitti Federica, Pias-Peleteiro Leticia, Rio Marlène, Courtin Thomas, Abdallah Hamza Hadj, Ducreux Stéphanie, Laloy Jean-Sérène, Rollier Paul, Guerrot Anne-Marie, Chatron Nicolas, Demurger Florence, Goldenberg Alice, Delanne Julian, Faivre Laurence, Lecoquierre François, Nicolas Gaël, Coussement Aurélie, Collet Corinne, Herenger Yvan, Defrance Matthieu, Cormier-Daire Valérie, Charbonnier Camille, de Dieuleveult Maud
Abstract excerpt
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 complex rearrangements. Investigating the epigenetic landscape has become essential to improve the diagnostic yield. Diseases...
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