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FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
Cospain A, Rivera-Barahona A, Dumontet E, Gener B, Bailleul-Forestier I, Meyts I, Jouret G, Isidor B, Brewer C, Wuyts W, Moens L, Delafontaine S, Keung Lam WW, Van Den Bogaert K, Boogaerts A, Scalais E, Besnard T, Cogne B, Guissard C, Rollier P, Carre W, Bouvet R, Tarte K, Gómez-Carmona R, Lapunzina P, Odent S, Faoucher M, Dubourg C, Ruiz-Pérez VL, Devriendt K, Pasquier L, Pérez-Jurado LA. Cospain A, et al. Among authors: scalais e. Genet Med. 2022 Dec;24(12):2475-2486. doi: 10.1016/j.gim.2022.09.002. Epub 2022 Oct 4. Genet Med. 2022. PMID: 36197437 Free article.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Küry S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denommé-Pichon AS, Cogné B, Kundishora AJ, Hao LT, Li H, Stevenson RE, Louie RJ, Deb W, Torti E, Vignard V, McWalter K, Raymond FL, Rajabi F, Ranza E, Grozeva D, Coury SA, Blanc X, Brischoux-Boucher E, Keren B, Õunap K, Reinson K, Ilves P, Wentzensen IM, Barr EE, Guihard SH, Charles P, Seaby EG, Monaghan KG, Rio M, van Bever Y, van Slegtenhorst M, Chung WK, Wilson A, Quinquis D, Bréhéret F, Retterer K, Lindenbaum P, Scalais E, Rhodes L, Stouffs K, Pereira EM, Berger SM, Milla SS, Jaykumar AB, Cobb MH, Panchagnula S, Duy PQ, Vincent M, Mercier S, Gilbert-Dussardier B, Le Guillou X, Audebert-Bellanger S, Odent S, Schmitt S, Boisseau P, Bonneau D, Toutain A, Colin E, Pasquier L, Redon R, Bouman A, Rosenfeld JA, Friez MJ, Pérez-Peña H, Akhtar Rizvi SR, Haider S, Antonarakis SE, Schwartz CE, Martínez F, Bézieau S, Kahle KT, Isidor B. Küry S, et al. Among authors: scalais e. Genet Med. 2022 Sep;24(9):1941-1951. doi: 10.1016/j.gim.2022.05.009. Epub 2022 Jun 9. Genet Med. 2022. PMID: 35678782 Free article.
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.
Jouret G, Heide S, Sorlin A, Faivre L, Chantot-Bastaraud S, Beneteau C, Denis-Musquer M, Turnpenny PD, Coutton C, Vieville G, Thevenon J, Larson A, Petit F, Boudry E, Smol T, Delobel B, Duban-Bedu B, Fallerini C, Mari F, Lo Rizzo C, Renieri A, Caberg JH, Denommé-Pichon AS, Tran Mau-Them F, Maystadt I, Courtin T, Keren B, Mouthon L, Charles P, Cuinat S, Isidor B, Theis P, Müller C, Kulisic M, Türkmen S, Stieber D, Bourgeois D, Scalais E, Klink B. Jouret G, et al. Among authors: scalais e. Clin Genet. 2022 Aug;102(2):117-122. doi: 10.1111/cge.14141. Epub 2022 Apr 25. Clin Genet. 2022. PMID: 35470444 Free article.
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.
Bar C, Breuillard D, Kuchenbuch M, Jennesson M, Le Guyader G, Isnard H, Rolland A, Doummar D, Fluss J, Afenjar A, Berquin P, De Saint Martin A, Dupont S, Goldenberg A, Lederer D, Lesca G, Maurey H, Meyer P, Mignot C, Nica A, Odent S, Poisson A, Scalais E, Sekhara T, Vrielynck P, Barcia G, Nabbout R. Bar C, et al. Among authors: scalais e. Epilepsy Behav. 2022 Jan;126:108471. doi: 10.1016/j.yebeh.2021.108471. Epub 2021 Dec 13. Epilepsy Behav. 2022. PMID: 34915430 Free article.
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu M, Jan… See abstract for full author list ➔ Johannesen KM, et al. Among authors: scalais e. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
50 results