Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Familial colorectal cancer: search for novel predisposition genes.
Försti A et al.
Human Genomics, 2025
Elucidating Mechanisms of Hypomorphic WDR19-Related Kidney Failure.
Shlomovitz O et al.
Kidney International Reports, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome.
Wójcik-Niklewska B et al.
Diagnostics (basel, Switzerland), 2025
Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers.
Försti A et al.
International Journal of Cancer, 2025
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.
Miller C et al.
Ophthalmic Genetics, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
Opportunistic genomic screening has clinical utility: An interventional cohort study.
Mighton C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
Peter VG et al.
Pnas Nexus, 2023
Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene.
Sajovic J et al.
Genes, 2023
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
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
Daoud H et al.
Cmaj : Canadian Medical Association Journal = Journal De L'association Medicale Canadienne, 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
Mutation of POC1B in a severe syndromic retinal ciliopathy.
Beck BB et al.
Human Mutation, 2014
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
Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.
Thuma TBT et al.
Survey of Ophthalmology, 0