Associated Papers
Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies.
Zhang J et al.
Brain and Behavior, 2024
38773790 (PubMed )
Supplement: BRB3-14-e3535-s001.xlsx › Sheet1
SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration.
Fortuna TR et al.
Acta Neuropathologica, 2023
A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy.
Ibrahim N et al.
Genes, 2023
Whole exome sequencing in dense families suggests genetic pleiotropy amongst Mendelian and complex neuropsychiatric syndromes.
Ganesh S et al.
Scientific Reports, 2022
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Kour S et al.
Nature Communications, 2021
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