Associated Papers
Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.
Tapper EE et al.
Kidney Medicine, 2026
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.
Hamanaka K et al.
Npj Genomic Medicine, 2025
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
Coats-like Exudative Retinopathy in a Patient with Joubert Syndrome with CEP290 Mutation: A Case Report.
Goh YH et al.
Korean Journal of Ophthalmology : Kjo, 2024
Optimal prenatal genetic diagnostic approach for posterior fossa malformation: karyotyping, copy number variant testing, or whole-exome sequencing?
Juan Z et al.
European Journal of Medical Research, 2024
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D et al.
Jama Network Open, 2024
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Two Siblings Showing a Mild Phenotype of Joubert Syndrome with a Specific CEP290 Variant.
Uda D et al.
Neuropediatrics, 2023
Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes.
Sangermano R et al.
Advances in Experimental Medicine and Biology, 2023
Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.
Tuupanen S et al.
Translational Vision Science & Technology, 2022
Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.
Moon D et al.
Genes, 2021
Any modality of renal replacement therapy can be a treatment option for Joubert syndrome.
Takagi Y et al.
Scientific Reports, 2021
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.
Sallum JMF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.
Surl D et al.
Molecular Vision, 2020
Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.
Barny I et al.
Human Molecular Genetics, 2018
Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases.
Itoh M et al.
Brain & Development, 2018
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.
Han J et al.
Molecular Vision, 2017
Molecular genetic analysis of 30 families with Joubert syndrome.
Suzuki T et al.
Clinical Genetics, 2016