Syndromic neurodevelopmental disorder

[1]. Ambrin Fatima, et al. Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy. Am J Hum Genet. 2021 Apr 1;108(4):739-748. [Content Brief]

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[3]. Daniel L Polla, et al. Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder. Genet Med. 2021 Jul;23(7):1246-1254. [Content Brief]

[4]. Davor Lessel, et al. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2018 Jan 4;102(1):196. [Content Brief]

[5]. Elise Vantroys, et al. Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency. Orphanet J Rare Dis. 2018 May 21;13(1):80. [Content Brief]

[6]. Frederike L Harms, et al. Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth. Hum Mutat. 2020 Sep;41(9):1645-1661. [Content Brief]

[7]. Kamal Khan, et al. Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. Genet Med. 2019 Nov;21(11):2532-2542. [Content Brief]

[8]. Kimberly Wiltrout, et al. Variants in DOCK3 cause developmental delay and hypotonia. Eur J Hum Genet. 2019 Aug;27(8):1225-1234. [Content Brief]

[9]. Maureen S Mulhern, et al. NBEA: Developmental disease gene with early generalized epilepsy phenotypes. Ann Neurol. 2018 Nov;84(5):788-795. [Content Brief]

[10]. Michael S Nahorski, et al. Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. Brain. 2018 Jul 1;141(7):1934-1945. [Content Brief]

[11]. Mythily Ganapathi, et al. Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder. Am J Hum Genet. 2019 Feb 7;104(2):287-298. [Content Brief]

[12]. Paul C Marcogliese, et al. IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 Sep 6;103(3):456. [Content Brief]

[13]. Renske Oegema, et al. Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development. PLoS Genet. 2017 Aug 1;13(8):e1006923. [Content Brief]

[14]. Vincenzo Salpietro, et al. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nat Commun. 2019 Jul 12;10(1):3094. [Content Brief]

[15]. Yoko Ito, et al. De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. Am J Hum Genet. 2018 Jul 5;103(1):144-153. [Content Brief]