Associated Papers
Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons.
Taniguchi K et al.
Molecular Genetics & Genomic Medicine, 2025
40078074 (PubMed )
Supplement: MGG3-13-e70092-s002.xlsx › Supplementary_Table_1
Two Siblings Showing a Mild Phenotype of Joubert Syndrome with a Specific CEP290 Variant.
Uda D et al.
Neuropediatrics, 2023
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
Kim YJ et al.
Genes, 2021
33946315 (PubMed )
Supplement: genes-12-00675-s001.zip › genes-1171954-supplementary.pdf
Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.
Surl D et al.
Molecular Vision, 2020
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 an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity.
Seong MW et al.
The Journal of Molecular Diagnostics : Jmd, 2015
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