Associated Papers
Clinical and Molecular Landscape of GLRA2 in X-Linked Early-Onset High Myopia.
Li X et al.
Investigative Ophthalmology & Visual Science, 2025
Craniofrontonasal syndrome in a patient with an inv(X)(p22.2q13.1), separating EFNB1 from its enhancer.
Kakadia PM et al.
European Journal of Human Genetics : Ejhg, 2025
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
Variant functional assessment in Drosophila by overexpression: what can we learn?
Her Y et al.
Genome, 2024
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
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_
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