Toutes les publications 2025 du Centre National de Génétique

Van Oirsouw Ase, Nedbalova P, Hancarova M, Prchal J, Prchalova D, Vlckova M, Bendova S, Monaghan Kg, Dyer Lm, Chen Y, Carere Da, Te Bogt Eam, Fisher H, Scheuerle Ae, Riley S, Jain M, Mu W, Bodurtha Jn, Van Eerde Am, Stokman Mf, Longo N, Balasubramanian M, Spiller M, Costain G, Von Der Lippe C, Tveten K, Jortveit M, Holla Øl, Isidor B, Cogné B, Glinton Ke, Vuocolo B, Sierra Ra, Angle B, Bontempo K, Koop K, Rabin R, Pappas J, Staffenberg Da, Joset P, Miny P, Filges I, Alali A, Vitalone K, Rosenfeld Ja, Bi W, Bradbrook S, Perrier R, Ramanathan S, Gold Ja, Palomares Bralo M, Ángeles Gómez-Cano M, Olney Ah, Nielsen S, Ziegler A, Bonneau D, Prouteau C, Bruel Al, Caille-Benigni C, Lambert L, Yu Ac, Robin Nh, Goodloe D, Fischer J, Porrmann J, Hennig Yd, Abou Jamra R, Herman I, Johnson Ir, Hérissant L, Jouret G, Van Gassen Kli, Van Binsbergen E, Van Der Zwaag B, Kamermans A, Oegema R, Sedlacek Z, Fenckova M, Van Jaarsveld Rh. PATHOGENIC XPO1 VARIANTS CAUSE A DOMINANT NEURODEVELOPMENTAL DISORDER. Genet Med. 2025 Nov;27(11):101555. doi:10.1016/j.gim.2025.101555. Epub 2025 Aug 13. PMID:40819229.

Shahsavani M, Wincent J, Reiter R, Soltysova A, Schuy J, Helgadottir Ht, Eisfeldt J, Ek M, Ficek A, Druschke L, Kusikova K, Hsieh Tc, Krichhoff A, Krawitz P, Li Jm, Webersinke G, Gorokhova S, Missirian C, Riccardi F, Pavinato L, Brusco A, Mandrile G, Trajkova S, Pintus F, Gagachovska B, Waisfisz Q, Van Hagen A, Bedoukian E, Izumi K, Granger L, Petersen A, Oegema R, Huibers M, Demurger F, Brischoux-Boucher E, Julia S, Banneau G, Zavala Mj, Lagos C, Repetto Gm, Jouret G, Kentros C, Ganapathi M, Chung Wk, May H, Hiatt Sm, Kelley Wv, Förster A, Olfe L, Shillington A, Dauriat B, Mercier S, Cogné B, Engel C, Dahlen E, Rosenberger G, Sauvigny T, Abdallah Hh, Courtin T, Stray-Pedersen A, Bernat Ja, Paolillo Vk, Viso Fd, Alaimo Jt, Thiffault I, Farrow Eg, Cohen Asa, Weis S, Duba Hc, Nordgren A, Falk A, Weis D, Lindstrand A. CHARACTERIZATION OF CTNND2-RELATED NEURODEVELOPMENTAL DISEASE, PHENOTYPE-GENOTYPE SPECTRUM AND WNT DYNAMICS IN EARLY NEUROGENESIS. Res Sq [Preprint]. 2025 Dec 30:rs.3.rs-8224288. doi:10.21203/rs.3.rs-8224288/v1. PMID:41502569.

Berger E, Jauss Rt, Ranells Jd, Zonic E, Von Wintzingerode L, Wilson A, Wagner J, Tuttle A, Thomas-Wilson A, Schulte B, Rabin R, Pappas J, Odgis Ja, Muthaffar O, Mendez-Fadol A, Lynch M, Levy J, Lehalle D, Lake Nj, Krey I, Kozenko M, Knierim E, Jouret G, Jobanputra V, Isidor B, Hunt D, Hsieh Tc, Holtz Am, Haack Tb, Gold Nb, Dunstheimer D, Donge M, Deb W, De La Rosa Poueriet Ka, Danyel M, Christodoulou J, Chopra S, Callewaert B, Busche A, Brick L, Bigay Bg, Arlt M, Anikar Ss, Almohammal Mn, Almanza D, Alhashem A, Bertoli-Avella A, Sticht H, Abou Jamra R. UPRGULATION VERSUS LOSS OF FUNCTION OF NTRK2 IN 44 AFFECTED INDIVIDUALS LEADS TO 2 DISTINCT NEURODEVELOPMENTAL DISORDERS. Genet Med. 2025 May;27(5):101326. doi:10.1016/j.gim.2024.101326. Epub 2024 Nov 12. PMID:39540377.

Heddar A, Fievez J, Saraeva R, Benquey T, Jouret G. HETEROZYGOUS PRDM9 TRUNCATING VARIANT IN A PATIENT WITH PRIMARY OVARIAN INSUFFICIENCY. J Hum Genet. 2025 Dec;70(12):667-669. doi:10.1038/s10038-025-01394-2. Epub 2025 Aug 29. PMID:40883650.

Heddar A, Fievez J, Saraeva R, Benquey T, Jouret G. HETEROZYGOUS PRDM9 TRUNCATING VARIANT IN A PATIENT WITH PRIMARY OVARIAN INSUFFICIENCY. J Hum Genet. 2025 Dec;70(12):667-669. doi:10.1038/s10038-025-01394-2.

Küry S, Stanton J.E., van Woerden G.M., Bosc-Rosati A., Hsieh T.C., Bray L., Oloudé M., Rosenfelt C., Scott-Boyer M.P., Most V., Wang T., Papendorf J.J., de Konink C., Deb W., Vignard V., Studencka-Turski M., Besnard T., Hajdukowicz A.M., Thiel F.G., Wolfgramm S., Florenceau L., Cuinat. 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.

Figura J.R., Roberts P., Sawka R., Chambers M., Claudio M., Vollmer L.L., Vogt A., Homanics G.E., Van Beers E., Donge M., Scalais E., Sorlin A., Jou A.J., VanDemark A.P., Palladino M.J. NEWLY IDENTIFIED TPI DEFICIENCY TREATMENTS FUNCTION FOR NOVEL DISEASE-CAUSING ALLELE, TPI1R5G. Genes (Basel). 2025 Oct 14;16(10):1205. doi:10.3390/genes16101205. PMID:41153421.

Loberti L, Adamo L, Antolini E, Casamassima G, Destrèe A, Brunetti-Pierri N, Genevieve D, Christophe P, Coubes C, Van Esch H, Herget T, Kortüm F, Lisfeld J, Möllring A.C., Zenker M, Levy J, Perrin L, Tabet A.C., Maruani A, Sorlin A, Stieber D, Hérissant L, Dahan K, Sinibaldi L, Capolino R, Dentici M.L., Dallapiccola B, Novelli A, Garavelli L, Caraffi S.G., Piatelli G, Valenzuela I, Digilio M.C., Caumes R, Knopp C, Chwiałkowska K, Jezela-Stanek A, Kwasniewski M, Korotko U, Gorzałczyńska E, Canitano R, Grosso S, Rahikkala E, Mattern L, Elbracht M, Zuffardi O, Caputo V, Toschi B, Beunders G, Leeuwen L, Elting M.W., Van Der Laan L, Broekema M.F., Groffen A.J., Van De Kamp J.M., Van Haelst M.M., Alders M, Mauro S.P., De Razza F, Varvara D, Kick J, Gaspar H, Braun D, Lausberg E, Maier A, Ruault V, Genesio R, Tartaglia M, Tita R, Bruttini M, Longo I, Baldassarri M, Mencarelli M.A., Renieri A, Pinto A.M. AUTS2-RELATED SYNDROME: INSIGHTS FROM A LARGE EUROPEAN COHORT. Genet Med. 2025 Jun;27(6):101375. doi:10.1016/j.gim.2025.101375. Epub 2025 Feb 12. PMID:39953909.

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 A.L., Buhas D, Carallis F, Cogné B, Cormier-Daire V, Delanne J, Demaret T, Denommé-Pichon A.S., Désir J, Dubourg C, Fradin M, Geneviève D, Goel H, Goldenberg A, Gripp K.W., Guichet A, Guimier A, Jacquinet A, Keren B, Legoff L, Levy M.A., McConkey H, Mendelsohn B.A., Mignot C, Milon V, Nizon M, Oneda B, Pasquier L, Patat O, Philippe C, Procaccio V, Procopio R, Prouteau L, Rambaud T, Rauch A, Relator R, Rondeau S, Santen G.W.E., Schleit J, Sorlin A, Steindl K, Tedder M, Tessarech M, Mau-Them F.T., Trost D, Van Der Sluijs P.J., 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.

De Brouchoven I, Lorand J, Bofferding L, Sorlin A, Van Damme A, Danhaive O. TRAMETINIB AS A TARGETED TREATMENT IN CARDIAC AND LYMPHATIC PRESENTATIONS OF NOONAN SYNDROME. Front Pediatr. 2025 Feb 18;13:1475143. doi:10.3389/fped.2025.1475143. eCollection 2025.

El Masri R, Iannuzzo A, Kuentz P, Tacine R, Vincent M, Barbarot S, Morice-Picard F, Boralevi F, Oillarburu N, Mazereeuw-Hautier J, Duffourd Y, Faivre L, Sorlin A, Vabres P, Delon J. A POSTZYGOTIC GNA13 VARIANT UPREGULATES THE RHOA/ROCK PATHWAY AND ALTERS MELANOCYTE FUNCTION IN A MOSAIC SKIN HYPOPIGMENTATION SYNDROME. Nat Commun. 2025 Feb 18;16(1):1751. doi:10.1038/s41467-025-56995-4.