Associated Papers
Elucidating Mechanisms of Hypomorphic WDR19-Related Kidney Failure.
Shlomovitz O et al.
Kidney International Reports, 2025
41141533 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome.
Wójcik-Niklewska B et al.
Diagnostics (basel, Switzerland), 2025
Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report.
Tang X et al.
Heliyon, 2024
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
Combinations of deletion and missense variations of the dynein-2 DYNC2LI1 subunit found in skeletal ciliopathies cause ciliary defects.
Qiu H et al.
Scientific Reports, 2022
Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA.
Doornbos C et al.
European Journal of Human Genetics : Ejhg, 2021
Molecular basis of ciliary defects caused by compound heterozygous IFT144/WDR19 mutations found in cranioectodermal dysplasia.
Ishida Y et al.
Human Molecular Genetics, 2021
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
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
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.
Coussa RG et al.
Clinical Genetics, 2013
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
Bredrup C et al.
American Journal of Human Genetics, 2011
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