REFERENCES
1. Pan X, Liu S, Feng X, et al. Whole exome sequencing and transcriptome analysis in two unrelated patients with novel SET mutations. J Hum Genet. 2023;68:867-74.
2. Stevens SJC, van der Schoot V, Leduc MS, et al. De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability. Hum Mutat. 2018;39:1014-23.
3. Weerts MJA, Lanko K, Guzmán-Vega FJ, et al. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021;23:2122-37.
4. Hamdan FF, Srour M, Capo-Chichi JM, et al. De novo mutations in moderate or severe intellectual disability. PLoS Genet. 2014;10:e1004772.
5. Brunet T, Jech R, Brugger M, et al. De novo variants in neurodevelopmental disorders-experiences from a tertiary care center. Clin Genet. 2021;100:14-28.
6. Zhang L, Gao J, Liu H, et al. Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy. Hum Genomics. 2020;14:44.
7. Richardson R, Splitt M, Newbury-Ecob R, Hulbert A, Kennedy J, Weber A, DDD Study. SET de novo frameshift variants associated with developmental delay and intellectual disabilities. Eur J Hum Genet. 2018;26:1306-11.
8. Developmental Disorders Study. Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017;542:433-8.
9. Trinh J, Kandaswamy KK, Werber M, et al. Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders. J Neurodev Disord. 2019;11:11.
10. Roston A, Evans D, Gill H, et al. SETD1B-associated neurodevelopmental disorder. J Med Genet. 2021;58:196-204.
11. Seo SB, McNamara P, Heo S, Turner A, Lane WS, Chakravarti D. Regulation of histone acetylation and transcription by INHAT, a human cellular complex containing the set oncoprotein. Cell. 2001;104:119-30.
12. Kurosaki T, Popp MW, Maquat LE. Quality and quantity control of gene expression by nonsense-mediated mRNA decay. Nat Rev Mol Cell Biol. 2019;20:406-20.
13. Stark Z, Schofield D, Alam K, et al. Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement. Genet Med. 2017;19:867-74.
14. Qin Y, Cao H, Liu L, et al. Genetic characterization of 128 chinese individuals with neurodevelopmental disorders via whole-exome sequencing. Dev Neurosci. ;2025:1-17.
