Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
Genetics and phenotypic heterogeneity of Galloway-Mowat syndrome.
Huang L et al.
Cell Communication and Signaling : Ccs, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.
Tilley FC et al.
Scientific Reports, 2021
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
Vodopiutz J et al.
Human Mutation, 2015
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Jinks RN et al.
Brain : a Journal of Neurology, 2015
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
Colin E et al.
American Journal of Human Genetics, 2014
Select a paper to view details