Neurodevelopmental disorder with dysmorphic facies

[1]. Anne H O'Donnell-Luria, et al. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. [Content Brief]

[2]. Arisha Rasheed, et al. Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. J Med Genet. 2021 Apr;58(4):237-246. [Content Brief]

[3]. Dervla M Connaughton, et al. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Am J Hum Genet. 2020 Oct 1;107(4):727-742. [Content Brief]

[4]. Diane D Shao, et al. A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. Genet Med. 2021 Jun;23(6):1158-1162. [Content Brief]

[5]. Fatema Alzahrani, et al. Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans. Am J Hum Genet. 2020 Dec 3;107(6):1178-1185. [Content Brief]

[6]. Gregory Costain, et al. De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome. Genet Med. 2019 Apr;21(4):1021-1026. [Content Brief]

[7]. Jonathan Humbert, et al. De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy. Am J Hum Genet. 2020 Sep 3;107(3):564-574. [Content Brief]

[8]. Max Krall, et al. Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies. Eur J Hum Genet. 2019 Apr;27(4):582-593. [Content Brief]

[9]. Nicole J Van Bergen, et al. Mutations in the exocyst component EXOC2 cause severe defects in human brain development. J Exp Med. 2020 Oct 5;217(10):e20192040. [Content Brief]

[10]. Roya Bina, et al. De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities. J Med Genet. 2020 Jul;57(7):461-465. [Content Brief]

[11]. Susan M Hiatt, et al. De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. PLoS Genet. 2018 Nov 30;14(11):e1007671. [Content Brief]

[12]. Tamar Harel, et al. Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay. Eur J Hum Genet. 2019 Aug;27(8):1315-1319. [Content Brief]

[13]. Tamar Harel, et al. Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies. Hum Mol Genet. 2020 Jun 3;29(9):1489-1497. [Content Brief]

[14]. Tarjinder Singh, et al. Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. Nat Neurosci. 2016 Apr;19(4):571-7. [Content Brief]