Associated Papers
The emerging role of glycine receptor α2 subunit defects in neurodevelopmental disorders.
Fraser SD et al.
Frontiers in Molecular Neuroscience, 2025
40007572 (PubMed )
Supplement: Table_1.docx
Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis.
Vilela J et al.
Biomedicines, 2023
38001974 (PubMed )
Supplement: biomedicines-11-02971-s001.zip › Supplementary_Table_S5.xlsx › S5
Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.
Mir A et al.
Bmc Medical Genomics, 2023
GLRA2 gene mutations cause high myopia in humans and mice.
Tian Q et al.
Journal of Medical Genetics, 2023
35396272 (PubMed )
Supplement: jmedgenet-2022-108425supp001.pdf
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Marcogliese PC et al.
Cell Reports, 2022
Loss, Gain and Altered Function of GlyR α2 Subunit Mutations in Neurodevelopmental Disorders.
Chen X et al.
Frontiers in Molecular Neuroscience, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans.
Wong WR et al.
Human Molecular Genetics, 2019
Structure-Function Analysis of the GlyR α2 Subunit Autism Mutation p.R323L Reveals a Gain-of-Function.
Zhang Y et al.
Frontiers in Molecular Neuroscience, 2017
Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism.
Pilorge M et al.
Molecular Psychiatry, 2016
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