Associated Papers
GEMIN5 and neurodevelopmental diseases: From functional insights to disease perception.
Martinez-Salas E et al.
Neural Regeneration Research, 2026
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
A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy.
Ibrahim N et al.
Genes, 2023
36980979 (PubMed )
Supplement: genes-14-00707-s001.zip › Table_S2.xlsx › Sheet1
Whole exome sequencing in dense families suggests genetic pleiotropy amongst Mendelian and complex neuropsychiatric syndromes.
Ganesh S et al.
Scientific Reports, 2022
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5.
Rajan DS et al.
Frontiers in Cell and Developmental Biology, 2022
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Kour S et al.
Nature Communications, 2021
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