Publications

Küry S, Stanton JE, van Woerden GM, Bosc-Rosati A, Hsieh TC, Bray L, Oloudé M, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel FG, Wolfgramm S, Florenceau L, Cuinat S, Marsac S, Verrès Y, Dangoumau A, Poirier L, Wentzensen IM, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter MS, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson LC, Costin C, Abdulrazak A, Jobling RK, Pappas J, Rabin R, Niyazov D, Chun-Hui Tsai A, Kovak K, Beck DB, Malicdan MCV, Adams DR, Wolfe L, Ganetzky RD, Muraresku CC, Babikyan D, Sedláček Z, Hančárová M, Timberlake AT, Saif HA, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton MJ, Bryson LJ, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, Lambropoulos A, Garganis K, Rio M, Levy J, Langas SJ, McRae AM, Lessard MK, D’Agostino MD, De Bie I, Wegler M, Abou Jamra R, Kamphausen SB, Bothe V, Potocki L, Olinger E, Sznajer Y, Wiame E, Thompson ML, Schroeder MC, Gooch C, Smith RA, Pandya A, Busch LM, Völker U, Hammer E, Wende K, Cogné B, Isidor B, Meiler J, Ripoll C, Bigou S, Laumonnier F, Hildebrand PW, Eichler EE, McWalter K, Krawitz PM, Roux-Dalvai F, Elgersma Y, Marcoux J, Bousquet MP, Droit A, Poschmann J, Grabrucker AM, Bolduc FV, Bézieau S, Ebstein F, Krüger E. Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. Nat Commun. 2025 Nov 26;16(1):10545. doi: 10.1038/s41467-025-65556-8. PMID: 41298377; PMCID: PMC12658096

Jury J, Besnard T, Deb W, Toutain A, Gueguen P, Bruel AL, Bouman A, Veenma D, Barakat TS, Do Souto Ferreira L, Zwijnenburg PJG, Schuhmann S, Vasileiou G, Egloff M, Bilan F, Mercier A, Letard P, Leitão E, Schroeder C, Depienne C, Blanc P, Bézieau S, Cogné B, Isidor B. Heterozygous alterations of GTF2I at the Williams-Beuren syndrome’s locus cause a neurodevelopmental disorder. J Med Genet. 2025 Oct 17:jmg-2024-110471. doi: 10.1136/jmg-2024-110471. Epub ahead of print. PMID: 40962490.

Cordovado A, Hérenger Y, Cormier C, López-Martín E, Stamberger H, Faivre L, Denommé-Pichon AS, Vitobello A, Abdallah HH, Barcia G, Courtin T, Martínez-Delgado B, Bermejo-Sánchez E, Barrero MJ, Gasser B, Bezieau S, Küry S, Weckhuysen S, Laumonnier F, Toutain A, Vuillaume ML. Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability. Hum Mutat. 2025 Mar 5;2025:7085599. doi: 10.1155/humu/7085599. PMID: 40226306; PMCID: PMC11987072.

Deb W, Besnard T, Desprez F, Cogné B, Do Souto Ferreira L, Vignard V, Marouillat S, Januel L, Gorokhova S, Busa T, Morel V, Dauriat B, Desportes V, Slavotinek AM, An Y, Lee H, Hary J, Kannu P, Athey TB, van de Laar IMBH, van Slegtenhorst MA, Dickson P, Muir AM, Buchert R, Haack TB, Imort D, Sousa SB, Xavier B, Almeida PM, Rogac M, Peterlin B, Kaspar S, Netzer C, Zempel H, Towne MC, Ladda RL, Sell SS, Gawlinski P, Song X, Wiszniewski W, Calame DG, Posey JE, Ebstein F, Lupski JR, Isidor B, Bézieau S, Laumonnier F, Küry S. DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER. medRxiv [Preprint]. 2025 Dec 12:2025.12.11.25341975. doi: 10.64898/2025.12.11.25341975. PMID: 41415500; PMCID: PMC12709454.

Elmakhzen B, Rollier P, Saillard C, Godey B, Le Marechal C, Gueguen P, Fajardy I, Odent S, Pasquier L. A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene. Mol Genet Genomic Med. 2025 May;13(5):e2474. doi: 10.1002/mgg3.2474. PMID: 40369851; PMCID: PMC12078196.

Houdayer C, Rooney K, van der Laan L, Bris C, Alders M, Bahr A, Barcia G, Battault C, Begemann A, Bonneau D, Bonnevalle A, Boughalem A, Bourges A, Bournez M, Bruel AL, Buhas D, Carallis F, Cogné B, Cormier-Daire V, Delanne J, Demaret T, Denommé-Pichon AS, Désir J, Dubourg C, Fradin M, Geneviève D, Goel H, Goldenberg A, Gripp KW, Guichet A, Guimier A, Jacquinet A, Keren B, Legoff L, Levy MA, McConkey H, Mendelsohn BA, Mignot C, Milon V, Nizon M, Oneda B, Pasquier L, Patat O, Philippe C, Procaccio V, Procopio R, Prouteau C, Rambaud T, Rauch A, Relator R, Rondeau S, Santen GWE, Schleit J, Sorlin A, Steindl K, Tedder M, Tessarech M, Mau-Them FT, Trost D, Van der Sluijs PJ, Vincent M, Whalen S, Thauvin-Robinet C, Isidor B, Sadikovic B, Vitobello A, Colin E. ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature. Eur J Hum Genet. 2025 Nov;33(11):1422-1431. doi: 10.1038/s41431-025-01798-w. Epub 2025 Mar 5. PMID: 40044822; PMCID: PMC12583565.