Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
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
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
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
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