Associated Papers
A novel AP1S2 variant causing leaky splicing in X-linked intellectual disability: Further delineation and intrafamilial variability.
Noojarern S et al.
American Journal of Medical Genetics. Part A, 2024
Increased NMDARs in neurons and glutamine synthetase in astrocytes underlying autistic-like behaviors of Gabrb1-/- mice.
Wang J et al.
Iscience, 2023
37599823 (PubMed )
Supplement: mmc2.zip › Supplemental_tables › Supplemental_table_3.xlsx › Table_S3
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn NS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36993157 (PubMed )
Supplement: media-2.xlsx › eTable_5
Cerebellum and neurodevelopmental disorders: RORα is a unifying force.
Ribeiro S et al.
Frontiers in Cellular Neuroscience, 2023
37066074 (PubMed )
Supplement: Table_1.XLSX › SFARI_AutDB__2023
Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability.
Zhu D et al.
Neurogenetics, 2022
A novel splice site mutation in AP1S2 gene for X-linked mental retardation in a Chinese pedigree and literature review.
Huo L et al.
Brain and Behavior, 2019
Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons.
Schafer ST et al.
Nature Neuroscience, 2019
30617258 (PubMed )
Supplement: NIHMS1512664-supplement-Sup_Table_5.xlsx › whole_genelist_SAFARI
Allele-specific expression in a family quartet with autism reveals mono-to-biallelic switch and novel transcriptional processes of autism susceptibility genes.
Lin CY et al.
Scientific Reports, 2018
29523860 (PubMed )
Supplement: 41598_2018_22753_MOESM11_ESM.xlsx › Table_S10
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia.
Ballarati L et al.
European Journal of Medical Genetics, 2012
Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome.
Borck G et al.
Human Mutation, 2008
Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia.
Saillour Y et al.
Journal of Medical Genetics, 2007
Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.
Tarpey PS et al.
American Journal of Human Genetics, 2006
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