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De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Sleyp Y, Valenzuela I, Accogli A, Ballon K, Ben-Zeev B, Berkovic SF, Broly M, Callaerts P, Caylor RC, Charles P, Chatron N, Cohen L, Coppola A, Cordeiro D, Cuccurullo C, Cuscó I, Janette diMonda, Duran-Romaña R, Ekhilevitch N, Fernández-Alvarez P, Gordon CT, Isidor B, Keren B, Lesca G, Maljaars J, Mercimek-Andrews S, Morrow MM, Muir AM; University of Washington Center for Mendelian Genomics; Rousseau F, Salpietro V, Scheffer IE, Schnur RE, Schymkowitz J, Souche E, Steyaert J, Stolerman ES, Vengoechea J, Ville D, Washington C, Weiss K, Zaid R, Sadleir LG, Mefford HC, Peeters H. Sleyp Y, et al. Among authors: steyaert j. Genet Med. 2022 Dec;24(12):2464-2474. doi: 10.1016/j.gim.2022.08.020. Epub 2022 Oct 11. Genet Med. 2022. PMID: 36214804 Free article.
Association of CDH11 with non-syndromic ASD.
Crepel A, De Wolf V, Brison N, Ceulemans B, Walleghem D, Peuteman G, Lambrechts D, Steyaert J, Noens I, Devriendt K, Peeters H. Crepel A, et al. Among authors: steyaert j. Am J Med Genet B Neuropsychiatr Genet. 2014 Jul;165B(5):391-8. doi: 10.1002/ajmg.b.32243. Epub 2014 May 19. Am J Med Genet B Neuropsychiatr Genet. 2014. PMID: 24839052
The ethics of patenting autism genes.
Hens K, Noens I, Peeters H, Steyaert J. Hens K, et al. Among authors: steyaert j. Nat Rev Genet. 2018 May;19(5):247-248. doi: 10.1038/nrg.2018.17. Epub 2018 Mar 26. Nat Rev Genet. 2018. PMID: 29576616 No abstract available.
8p21.3 deletions are rare causes of non-syndromic autism spectrum disorder.
Cosemans N, Maljaars J, Vogels A, Holvoet M, Devriendt K, Steyaert J, Van Den Bogaert K, Noens I, Peeters H. Cosemans N, et al. Among authors: steyaert j. Neurogenetics. 2021 Jul;22(3):207-213. doi: 10.1007/s10048-021-00635-8. Epub 2021 Mar 8. Neurogenetics. 2021. PMID: 33683518
424 results