Associated Papers
Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome.
Gong X et al.
Investigative Ophthalmology & Visual Science, 2025
40232708 (PubMed )
Supplement: iovs-66-4-39_s001.pdf
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.
D'Abrusco F et al.
European Journal of Human Genetics : Ejhg, 2025
39394465 (PubMed )
Supplement: 41431_2024_1703_MOESM1_ESM.pdf
Prenatal exome sequencing: A useful tool for the fetal neurologist.
de Koning MA et al.
Clinical Genetics, 2022
A rare case of occlusive juxtafoveolar retinal telangiectasias associated with lesions of the central nervous system: A cerebroretinal vasculopathy like phenotype without mutations in the TREX1 gene.
Seraly MP et al.
American Journal of Ophthalmology Case Reports, 2020
On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing.
Thiffault I et al.
Human Mutation, 2018
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
Roosing S et al.
Elife, 2015
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