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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: maljaars 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.
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: maljaars j. Neurogenetics. 2021 Jul;22(3):207-213. doi: 10.1007/s10048-021-00635-8. Epub 2021 Mar 8. Neurogenetics. 2021. PMID: 33683518
Conceptualization of quality of life in autistic individuals.
Evers K, Maljaars J, Schepens H, Vanaken GJ, Noens I. Evers K, et al. Among authors: maljaars j. Dev Med Child Neurol. 2022 Aug;64(8):950-956. doi: 10.1111/dmcn.15205. Epub 2022 Mar 24. Dev Med Child Neurol. 2022. PMID: 35323990 Free article. Review.
44 results