Associated Papers
Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly.
Carpentieri JA et al.
Nature Communications, 2022
Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations.
Abdel-Hamid MS et al.
Neurogenetics, 2021
Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement.
Su J et al.
Molecular Genetics & Genomic Medicine, 2021
Reduction of WDR81 impairs autophagic clearance of aggregated proteins and cell viability in neurodegenerative phenotypes.
Liu X et al.
Plos Genetics, 2021
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Cavallin M et al.
Brain : a Journal of Neurology, 2017
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
Select a paper to view details