Associated Papers
Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.
Muto V et al.
European Journal of Human Genetics : Ejhg, 2026
Neuroimaging to Genetics: Unraveling the Etiology of Cerebral Palsy in Children From Southern Brazil.
Do Valle DA et al.
Journal of Child Neurology, 2026
40534433 (PubMed )
Supplement: sj-pdf-1-jcn-10.1177_08830738251346918.pdf
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Neurodevelopmental disorder associated with gene ARF3: A case report.
Dos Santos Henrique S et al.
American Journal of Medical Genetics. Part A, 2024
A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1.
Ishida M et al.
Human Molecular Genetics, 2023
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
Fasano G et al.
Nature Communications, 2022
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.
Sakamoto M et al.
Human Molecular Genetics, 2021
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