Associated Papers
Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.
Tapper EE et al.
Kidney Medicine, 2026
41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel
Elucidating Mechanisms of Hypomorphic WDR19-Related Kidney Failure.
Shlomovitz O et al.
Kidney International Reports, 2025
41141533 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Nephronophthisis 13 caused by WDR19 variants with pancytopenia: case report.
Tanaka Y et al.
Cen Case Reports, 2024
Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report.
Tang X et al.
Heliyon, 2024
Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.
Li J et al.
Pediatric Nephrology (berlin, Germany), 2023
Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene.
Sajovic J et al.
Genes, 2023
36833218 (PubMed )
Supplement: genes-14-00291-s001.zip › genes-2122455-supplementary.pdf
A novel homozygous mutation in WDR19 induces disorganization of microtubules in sperm flagella and nonsyndromic asthenoteratospermia.
Ni X et al.
Journal of Assisted Reproduction and Genetics, 2020
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Dharmadhikari AV et al.
Genome Medicine, 2019
Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.
Ryan R et al.
Human Molecular Genetics, 2018
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.
Lee JM et al.
Pediatric Nephrology (berlin, Germany), 2015
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