Lumish HS, Wynn J, Devinsky O, Chung WK. Brief report: SETD2 mutation in a child with autism, intellectual disabilities and epilepsy. Journal of autism and developmental disorders. 2015;45(11):3764-70. PMID: 26084711.
Luscan A et al. Mutations in SETD2 cause a novel overgrowth condition.Journal of medical genetics. 2014;51(8):512-7. PMID: 24852293.
Marzin P et al. SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2019;181(4):509-518. PMID: 31643139.
O’Roak BJ et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.Science. 2012;338(6114):1619-22. PMID: 23160955.
O’Roak BJ et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature. 2012;485(7397):246-50. PMID: 22495309.
Rabin R et al. Genotype–phenotype correlation at codon 1740 of SETD2.American Journal of Medical Genetics Part A. 2020;182(9):2037-48. PMID: 32710489.
Tlemsani C et al. SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.Journal of medical genetics. 2016;53(11):743-51. PMID: 27317772.
van Rij MC et al. Two novel cases expanding the phenotype of SETD2‐related overgrowth syndrome.American Journal of Medical Genetics Part A. 2018;176(5):1212-5. PMID: 29681085.
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