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Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Küry S, Ebstein F, Mollé A, Besnard T, Lee MK, Vignard V, Hery T, Nizon M, Mancini GMS, Giltay JC, Cogné B, McWalter K, Deb W, Mor-Shaked H, Li H, Schnur RE, Wentzensen IM, Denommé-Pichon AS, Fourgeux C, Verheijen FW, Faurie E, Schot R, Stevens CA, Smits DJ, Barr E, Sheffer R, Bernstein JA, Stimach CL, Kovitch E, Shashi V, Schoch K, Smith W, van Jaarsveld RH, Hurst ACE, Smith K, Baugh EH, Bohm SG, Vyhnálková E, Ryba L, Delnatte C, Neira J, Bonneau D, Toutain A, Rosenfeld JA; Undiagnosed Diseases Network; Audebert-Bellanger S, Gilbert-Dussardier B, Odent S, Laumonnier F, Berger SI, Smith ACM, Bourdeaut F, Stern MH, Redon R, Krüger E, Margueron R, Bézieau S, Poschmann J, Isidor B. Küry S, et al. Among authors: bezieau s. Am J Hum Genet. 2022 Feb 3;109(2):361-372. doi: 10.1016/j.ajhg.2021.12.011. Epub 2022 Jan 19. Am J Hum Genet. 2022. PMID: 35051358 Free PMC article.
[Molecular bases of acrodermatitis enteropathica].
Küry S, Bézieau S, Moisan JP. Küry S, et al. Among authors: bezieau s. Med Sci (Paris). 2004 Dec;20(12):1070-2. doi: 10.1051/medsci/200420121070. Med Sci (Paris). 2004. PMID: 15581456 Free article. French. No abstract available.
Clinical utility gene card for: acrodermatitis enteropathica.
Küry S, Kharfi M, Schmitt S, Bézieau S. Küry S, et al. Among authors: bezieau s. Eur J Hum Genet. 2012 Mar;20(3). doi: 10.1038/ejhg.2011.227. Epub 2011 Dec 14. Eur J Hum Genet. 2012. PMID: 22166942 Free PMC article. No abstract available.
Clinical utility gene card for: biotinidase deficiency.
Küry S, Ramaekers V, Bézieau S, Wolf B. Küry S, et al. Among authors: bezieau s. Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2012.28. Epub 2012 Feb 29. Eur J Hum Genet. 2012. PMID: 22378278 Free PMC article. No abstract available.
238 results