References
- Forseth B, Papanek PE, Polfuss ML. Feasibility and applicability of Evenson sedentary behavior cut points applied to children with and without intellectual and developmental disabilities. Disabil Rehabil. 2020;1–6. doi:10.1080/09638288.2020.1817160
- Beheshtian M, Akhtarkhavari T, Mehvari S, et al. Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; adding data from a large cohort of Iranian patients. Clin Genet. 2020. doi:10.1111/cge.13845
- Cervi F, Saletti V, Turner K, et al. The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1. Orphanet J Rare Dis. 2020;15(1):237. doi:10.1186/s13023-020-01488-4
- Lindgren S, Lauer E, Momany E, et al. Disability, hospital care, and cost: utilization of emergency and inpatient care by a cohort of children with intellectual and developmental disabilities. J Pediatr. 2020:S0022-3476(20)31120-3. doi:10.1016/j.jpeds.2020.08.084
- Umair M, Ballow M, Asiri A, et al. EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay. Clin Genet. 2020;98(6):555–561. doi:10.1111/cge.13842
- Chen X, Kong L, Piltonen TT, Gissler M, Lavebratt C. Association of polycystic ovary syndrome or anovulatory infertility with offspring psychiatric and mild neurodevelopmental disorders: a Finnish population-based cohort study. Hum Reprod. 2020:deaa192.
- Liang B, Wang Y, Lin N, et al. Single nucleotide polymorphism array analysis of 102 patients with developmental delay and/or intellectual disability from Fujian, China. Clin Chim Acta. 2020;510:638–643. doi:10.1016/j.cca.2020.08.032
- Xu C, Yao M, Kang M, Duan G. Improving physical fitness of children with intellectual and developmental disabilities through an adapted rhythmic gymnastics program in China. Biomed Res Int. 2020;2020:2345607.
- l-Deri N, Okur V, Ahimaz P, et al. A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function. J Med Genet. 2020:jmedgenet-2020-107016.
- Negri G, Magini P, Milani D, et al. Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders. Hum Genet. 2019;138(3):257–269. doi:10.1007/s00439-019-01985-y
- Spena S, Milani D, Rusconi D, et al. Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients. Clin Genet. 2014;12:1–10.
- Roelfsema JH, Peters DJ. Rubinstein-Taybi syndrome: clinical and molecular overview. Expert Rev Mol Med. 2007;9(23):1–16. doi:10.1017/S1462399407000415
- Chen D, Liu J, Wu Z, Li SH. Role of miR-132/methyl-CpG-binding protein 2 in the regulation of neural stem cell differentiation. Neural Regen Res. 2021;16(2):345–349. doi:10.4103/1673-5374.290908
- Zhang X, Herr F, Vernochet A, Lorenzo HK, Beaudreuil S, Dürrbach A. CASK, the soluble glomerular permeability factor, is secreted by macrophages in patients with recurrent focal and segmental glomerulo-sclerosis. Front Immunol. 2020;11:875. doi:10.3389/fimmu.2020.00875
- Ntonova A, Hummel B, Khavaran A, et al. Heat-shock protein 90 controls the expression of cell-cycle genes by stabilizing metazoan-specific host-cell factor HCFC1. Cell Rep. 2019;29(6):1645–1659.e9. doi:10.1016/j.celrep.2019.09.084
- Selenica P, Conlon N, Gonzalez C, et al. Genomic profiling aids classification of diagnostically challenging uterine mesenchymal tumors with myomelanocytic differentiation. Am J Surg Pathol. 2020. doi:10.1097/PAS.0000000000001572
- Santoro C, Giugliano T, Bernardo P, et al. A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report. BMC Neurol. 2020;20(1):327. doi:10.1186/s12883-020-01911-0
- Zhou P, He N, Zhang JW, et al. Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes Brain Behav. 2018;17(8):e12456. doi:10.1111/gbb.12456
- Lee HJ, Woo H, Lee HE, et al. The novel DYRK1A inhibitor KVN93 regulates cognitive function, amyloid-beta pathology, and neuroinflammation. Free Radic Biol Med. 2020:S0891-5849(20)31237-5.