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
Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.
Jiang Y et al.
Biomolecules, 2025
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes.
Sangermano R et al.
Advances in Experimental Medicine and Biology, 2023
RPE65 c.353G>A, p.(Arg118Lys): A Novel Point Mutation Associated with Retinitis Pigmentosa and Macular Atrophy
Bjeloš M et al.
International Journal of Molecular Sciences, 2022
OFD1: One gene, several disorders.
Pezzella N et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2022
Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.
Moon D et al.
Genes, 2021
The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.
Villanueva-Mendoza C et al.
Genes, 2021
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.
Field MJ et al.
Human Mutation, 2021
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.
Gall K et al.
Plos One, 2021
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2021
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Clinical spectrum of male patients with OFD1 mutations.
Sakakibara N et al.
Journal of Human Genetics, 2019
Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing.
González-Del Pozo M et al.
Scientific Reports, 2018
Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
Chen X et al.
Journal of Translational Medicine, 2018
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.
Sanchez-Navarro I et al.
Scientific Reports, 2018
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.
Di Iorio V et al.
Genes, 2017
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.
Taylor RL et al.
Ophthalmology, 2017
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
Ellingford JM et al.
Ophthalmology, 2016
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Alternative splicing and retinal degeneration.
Liu MM et al.
Clinical Genetics, 2013
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
Webb TR et al.
Human Molecular Genetics, 2012