Associated Papers
Elucidating Mechanisms of Hypomorphic WDR19-Related Kidney Failure.
Shlomovitz O et al.
Kidney International Reports, 2025
Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome.
Wójcik-Niklewska B et al.
Diagnostics (basel, Switzerland), 2025
Phenotypic spectrum and theoretical prime editing analysis of WDR19-mediated retinal degeneration.
Pincay J et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2025
Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.
Schneider R et al.
Genes & Diseases, 2025
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
Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene.
Sajovic J et al.
Genes, 2023
Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling.
Sallah SR et al.
The Journal of Molecular Diagnostics : Jmd, 2022
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
Hammarsjö A et al.
Journal of Human Genetics, 2021
The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients.
Al Alawi I et al.
F1000research, 2021
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
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 variations and multiallelic variants in Korean patients with Leber congenital amaurosis.
Surl D et al.
Molecular Vision, 2020
Generation of human induced pluripotent stem cells from peripheral blood mononuclear cells of a Senior-Loken syndrome patient.
Park H et al.
Stem Cell Research, 2019
Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease.
Al Alawi I et al.
Kidney International Reports, 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
Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports.
Yoshikawa T et al.
Nephrology (carlton, Vic.), 2017
Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands.
Zhang Q et al.
Scientific Reports, 2016
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
Braun DA et al.
Kidney International, 2016
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
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