Associated Papers
Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises.
Watson D et al.
American Journal of Medical Genetics. Part A, 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
Thirteen Years' Progression of Macular Atrophy in a Patient With Jeune Syndrome.
Rali AS et al.
Ophthalmic Surgery, Lasers & Imaging Retina, 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
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Halbritter J et al.
Human Genetics, 2013
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
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