Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Cerebellar Ataxia, Impaired Intellectual Development, and Disequilibrium Syndrome-2: A Case Report.
Hochman L et al.
Cureus, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
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
An extremely severe phenotype attributed to WDR81 nonsense mutations.
Cappuccio G et al.
Annals of Neurology, 2017
The genetic landscape of familial congenital hydrocephalus.
Shaheen R et al.
Annals of Neurology, 2017
A Genetic Screen Identifies a Critical Role for the WDR81-WDR91 Complex in the Trafficking and Degradation of Tetherin.
Rapiteanu R et al.
Traffic (copenhagen, Denmark), 2016
Characterization of a novel zebrafish (Danio rerio) gene, wdr81, associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ).
Doldur-Balli F et al.
Bmc Neuroscience, 2015
WDR81 is necessary for purkinje and photoreceptor cell survival.
Traka M et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013
Neuro-ophthalmologic findings in humans with quadrupedal locomotion.
Sarac O et al.
Ophthalmic Genetics, 2012
Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.
Gulsuner S et al.
Genome Research, 2011