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Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.
Santini A, Tognon A, Richard AC, Velasco G, Phan G, Marzin P, Maury F, May A, Michot C, Chirita-Emandi A, Saraiva JM, Ballesta-Martinez MJ, Lyonnet S, Sansović I, Barakat TS, Brunelle P, Ghoumid J, Le Guillou X, Le Tanno P, Willems M, Zenker M, Schanze I, Moortgat S, Isidor B, Paulet A, Yeung A, Levy J, Ruscitti F, Pias-Peleteiro L, Rio M, Courtin T, Abdallah HH, Ducreux S, Laloy JS, Rollier P, Guerrot AM, Chatron N, Demurger F, Goldenberg A, Delanne J, Faivre L, Lecoquierre F, Nicolas G, Coussement A, Collet C, Herenger Y, Defrance M, Cormier-Daire V, Charbonnier C, de Dieuleveult M. Santini A, et al. Genome Med. 2026 Apr 8;18(1):39. doi: 10.1186/s13073-026-01639-5. Genome Med. 2026. PMID: 41952182 Free PMC article.
KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.
van Oirsouw ASE, Hadders MA, Koetsier M, Peters EDJ, Assia Batzir N, Barakat TS, Baralle D, Beil A, Bonnet-Dupeyron MN, Boone PM, Bouman A, Carere DA, Cogne B, Dunnington L, Farach LS, Genetti CA, Isidor B, Januel L, Joshi A, Lahiri N, Lee KN, Maya I, McEntagart M, Northrup H, Pujalte M, Richardson K, Walker S, Koeleman BPC, Alders M, van Jaarsveld RH, Oegema R. van Oirsouw ASE, et al. Hum Mol Genet. 2025 Aug 16;34(16):1353-1367. doi: 10.1093/hmg/ddaf082. Hum Mol Genet. 2025. PMID: 40420380 Free PMC article.
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.
Furia F, Levy AM, Theunis M, Bamshad MJ, Bartos MN, Bijlsma EK, Brancati F, Cejudo L, Chong JX, De Luca C, Dean SJ, Egense A, Goel H, Guenzel AJ, Hüffmeier U, Legius E, Mancini GMS, Marcos-Alcalde I, Niclass T, Planes M, Redon S, Ros-Pardo D, Rouault K, Schot R, Schuhmann S, Shen JJ, Tao AM, Thiffault I, Van Esch H, Wentzensen IM, Barakat TS, Møller RS, Gomez-Puertas P, Chung WK, Gardella E, Tümer Z. Furia F, et al. Clin Genet. 2024 Nov;106(5):574-584. doi: 10.1111/cge.14587. Epub 2024 Jul 11. Clin Genet. 2024. PMID: 38988293 Free PMC article.