Associated Papers
Refining the Phenotypic and Genotypic Spectrum of WDR73-Related Galloway-Mowat Syndrome: A Case Series and Systematic Review.
Yang YL et al.
Neurology. Genetics, 2025
Galloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literature.
Eskander J et al.
Ophthalmic Genetics, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Assembly mechanism of Integrator's RNA cleavage module.
Sabath K et al.
Molecular Cell, 2024
Molecular mechanisms and genetic factors contributing to the developmental dysplasia of the hip.
Zhao X et al.
Frontiers in Genetics, 2024
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._
Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.
Al-Rakan MA et al.
Bmc Ophthalmology, 2018
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.
Rosti RO et al.
American Journal of Medical Genetics. Part A, 2016
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
Vodopiutz J et al.
Human Mutation, 2015
Applying filtration steps to interpret the results of whole-exome sequencing in a consanguineous population to achieve a high detection rate.
Alfares AA
International Journal of Health Sciences, 0
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