Associated Papers
Clinical and Molecular Landscape of GLRA2 in X-Linked Early-Onset High Myopia.
Li X et al.
Investigative Ophthalmology & Visual Science, 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
Integrative genomic analyses of European intrahepatic cholangiocarcinoma: Novel ROS1 fusion gene and PBX1 as prognostic marker.
Plum PS et al.
Clinical and Translational Medicine, 2024
38877653 (PubMed )
Supplement: CTM2-14-e1723-s002.xlsx › STab_5_WES_validation_deep_NGS
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
Select a paper to view details