Associated Papers
Clinical and Genetic Characteristics of Senior-Loken Syndrome Patients in Korea.
Song JR et al.
Genes, 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
Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study.
Hashiba T et al.
Journal of Diabetes Investigation, 2025
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
Systematic assessment of the contribution of structural variants to inherited retinal diseases.
Wen S et al.
Human Molecular Genetics, 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 2023
Systematic assessment of the contribution of structural variants to inherited retinal diseases.
Wen S et al.
Biorxiv : the Preprint Server for Biology, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia.
Wen S et al.
Bmc Pediatrics, 2022
Spectrum of Mutations in Pediatric Non-glomerular Chronic Kidney Disease Stages 2-5.
Wang X et al.
Frontiers in Genetics, 2021
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.
Wang P et al.
Translational Vision Science & Technology, 2019
Senior-Løken syndrome with IQCB1 mutation in Taiwan.
Yu PH et al.
The Kaohsiung Journal of Medical Sciences, 2018
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
Specific retinal phenotype in early IQCB1-related disease.
Vincent A et al.
Eye (london, England), 2018
Diagnostic value of partial exome sequencing in developmental disorders.
Gieldon L et al.
Plos One, 2018
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.
Xu Y et al.
Experimental Eye Research, 2016
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
Wang H et al.
Investigative Ophthalmology & Visual Science, 2015
Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
Liu Y et al.
Plos One, 2015
Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome.
Tong H et al.
Nephrology (carlton, Vic.), 2013
Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis.
Chen Y et al.
Investigative Ophthalmology & Visual Science, 2013
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA et al.
Journal of Medical Genetics, 2011
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Khanna H et al.
Nature Genetics, 2009