Associated Papers
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
Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort.
Strong A et al.
Scientific Reports, 2023
36653407 (PubMed )
Supplement: 41598_2023_27641_MOESM2_ESM.xlsx › Sheet1
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
Best S et al.
Journal of Medical Genetics, 2022
34716235 (PubMed )
Supplement: jmedgenet-2021-108065supp001.pdf
Thirteen Years' Progression of Macular Atrophy in a Patient With Jeune Syndrome.
Rali AS et al.
Ophthalmic Surgery, Lasers & Imaging Retina, 2021
Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease.
Wilson PC et al.
Kidney360, 2020
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Boldt K et al.
Nature Communications, 2016
27173435 (PubMed )
Supplement: ncomms11491-s8.xlsx › IFT-B_variants
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