Social Security Administration. Change in terminology: “mental retardation” to “intellectual disability” Final rule. Fed Regist 2013, 78: 46499–46502.

Google Scholar 

Vissers LE, Gilissen C, Veltman JA. Genetic studies in intellectual disability and related disorders. Nat Rev Genet 2016, 17: 9–18.

Article  CAS  PubMed  Google Scholar 

Totsika V, Liew A, Absoud M, Adnams C, Emerson E. Mental health problems in children with intellectual disability. Lancet Child Adolesc Health 2022, 6: 432–444.

Article  PubMed  Google Scholar 

Patel DR, Cabral MD, Ho A, Merrick J. A clinical primer on intellectual disability. Transl Pediatr 2020, 9: S23–S35.

Article  PubMed  PubMed Central  Google Scholar 

van Ool JS, Snoeijen-Schouwenaars FM, Schelhaas HJ, Tan IY, Aldenkamp AP, Hendriksen JGM. A systematic review of neuropsychiatric comorbidities in patients with both epilepsy and intellectual disability. Epilepsy Behav 2016, 60: 130–137.

Article  PubMed  Google Scholar 

Stadskleiv K. Cognitive functioning in children with cerebral palsy. Dev Med Child Neurol 2020, 62: 283–289.

Article  PubMed  Google Scholar 

Hickman RA, O’Shea SA, Mehler MF, Chung WK. Neurogenetic disorders across the lifespan: from aberrant development to degeneration. Nat Rev Neurol 2022, 18: 117–124.

Article  PubMed  PubMed Central  Google Scholar 

Maia N, Nabais Sá MJ, Melo-Pires M, de Brouwer APM, Jorge P. Intellectual disability genomics: current state, pitfalls and future challenges. BMC Genom 2021, 22: 909.

Article  Google Scholar 

Iwase S, Bérubé NG, Zhou Z, Kasri NN, Battaglioli E, Scandaglia M. Epigenetic etiology of intellectual disability. J Neurosci 2017, 37: 10773–10782.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zahir FR, Brown CJ. Epigenetic impacts on neurodevelopment: pathophysiological mechanisms and genetic modes of action. Pediatr Res 2011, 69: 92R-100R.

Article  PubMed  Google Scholar 

Jambhekar A, Dhall A, Shi Y. Roles and regulation of histone methylation in animal development. Nat Rev Mol Cell Biol 2019, 20: 625–641.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bannister AJ, Kouzarides T. Regulation of chromatin by histone modifications. Cell Res 2011, 21: 381–395.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kim JH, Lee JH, Lee IS, Lee SB, Cho KS. Histone lysine methylation and neurodevelopmental disorders. Int J Mol Sci 2017, 18: 1404.

Article  PubMed  PubMed Central  Google Scholar 

Collins BE, Greer CB, Coleman BC, Sweatt JD. Histone H3 lysine K4 methylation and its role in learning and memory. Epigenetics Chromatin 2019, 12: 7.

Article  PubMed  PubMed Central  Google Scholar 

Fallah MS, Szarics D, Robson CM, Eubanks JH. Impaired regulation of histone methylation and acetylation underlies specific neurodevelopmental disorders. Front Genet 2021, 11: 613098.

Article  PubMed  Google Scholar 

Li D, Xie Y. An evolved human-specific epigenetic mechanism for cortical expansion and gyrification. Neurosci Bull 2021, 37: 1370–1372.

Article  PubMed  PubMed Central  Google Scholar 

Reichard J, Zimmer-Bensch G. The epigenome in neurodevelopmental disorders. Front Neurosci 2021, 15: 776809.

Article  PubMed  PubMed Central  Google Scholar 

Scandaglia M, Barco A. Contribution of spurious transcription to intellectual disability disorders. J Med Genet 2019, 56: 491–498.

Article  CAS  PubMed  Google Scholar 

Larizza L, Finelli P. Developmental disorders with intellectual disability driven by chromatin dysregulation: clinical overlaps and molecular mechanisms. Clin Genet 2019, 95: 231–240.

Article  CAS  PubMed  Google Scholar 

Marshall P, Bredy TW. Cognitive neuroepigenetics: The next evolution in our understanding of the molecular mechanisms underlying learning and memory? Npj Sci Learn 2016, 1: 16014.

Article  PubMed  PubMed Central  Google Scholar 

Maity S, Farrell K, Navabpour S, Narayanan SN, Jarome TJ. Epigenetic mechanisms in memory and cognitive decline associated with aging and alzheimer’s disease. Int J Mol Sci. 2021, 22: 12280.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hamdan FF, Srour M, Capo-Chichi JM, Daoud H, Nassif C, Patry L, et al. De novo mutations in moderate or severe intellectual disability. PLoS Genet 2014, 10: e1004772.

Article  PubMed  PubMed Central  Google Scholar 

de Ligt J, Willemsen MH, van Bon BWM, Kleefstra T, Yntema HG, Kroes T, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012, 367: 1921–1929.

Article  PubMed  Google Scholar 

De Vas MG, Boulet F, Joshi SS, Garstang MG, Khan TN, Atla G, et al. Regulatory de novo mutations underlying intellectual disability. Life Sci Alliance 2023, 6: e202201843.

Article  PubMed  PubMed Central  Google Scholar 

Zhao G, Li K, Li B, Wang Z, Fang Z, Wang X, et al. Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans. Nucleic Acids Res 2020, 48: D913–D926.

CAS  PubMed  Google Scholar 

Klose RJ, Kallin EM, Zhang Y. JmjC-domain-containing proteins and histone demethylation. Nat Rev Genet 2006, 7: 715–727.

Article  CAS  PubMed  Google Scholar 

Liu L, Liu J, Lin Q. Histone demethylase KDM2A: Biological functions and clinical values (Review). Exp Ther Med 2021, 22: 723.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lu B, Wei J, Zhou H, Chen J, Li Y, Ye L, et al. Histone H3K36me2 demethylase KDM2A promotes bladder cancer progression through epigenetically silencing RARRES3. Cell Death Dis 2022, 13: 547.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chen L, Zhang J, Zou Y, Wang F, Li J, Sun F, et al. Kdm2a deficiency in macrophages enhances thermogenesis to protect mice against HFD-induced obesity by enhancing H3K36me2 at the Pparg locus. Cell Death Differ 2021, 28: 1880–1899.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wagner KW, Alam H, Dhar SS, Giri U, Li N, Wei Y, et al. KDM2A promotes lung tumorigenesis by epigenetically enhancing ERK1/2 signaling. J Clin Invest 2013, 123: 5231–5246.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lancaster MA, Renner M, Martin CA, Wenzel D, Bicknell LS, Hurles ME, et al. Cerebral organoids model human brain development and microcephaly. Nature 2013, 501: 373–379.

Article  CAS  PubMed  Google Scholar 

Bolger AM, Lohse M, Usadel B. Trimmomatic: a flexible trimmer for Illumina sequence data. Bioinformatics 2014, 30: 2114–2120.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dobin A, Davis CA, Schlesinger F, Drenkow J, Zaleski C, Jha S, et al. STAR: ultrafast universal RNA-seq aligner. Bioinformatics 2013, 29: 15–21.

Article  CAS  PubMed  Google Scholar 

Liao Y, Smyth GK, Shi W. featureCounts: an efficient general purpose program for assigning sequence reads to genomic features. Bioinformatics 2014, 30: 923–930.

Article  CAS  PubMed  Google Scholar 

Carneiro TN, Krepischi AC, Costa SS, Tojal da Silva I, Vianna-Morgante AM, Valieris R, et al. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases. Appl Clin Genet 2018, 11: 93–98.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gao C, Wang X, Mei S, Li D, Duan J, Zhang P, et al. Diagnostic yields of trio-WES accompanied by CNVseq for rare neurodevelopmental disorders. Front Genet 2019, 10: 485.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gabriel H, Korinth D, Ritthaler M, Schulte B, Battke F, von Kaisenberg C, et al. Trio exome sequencing is highly relevant in prenatal diagnostics. Prenat Diagn 2022, 42: 845–851.

Article  CAS  PubMed  Google Scholar 

Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A 1977, 74: 5463–5467.