Associated Papers
Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.
Barberán-Martínez P et al.
The Journal of Molecular Diagnostics : Jmd, 2026
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.
Heutinck PAT et al.
Scientific Reports, 2025
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.
Ullah M et al.
Npj Genomic Medicine, 2025
Deciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing.
Zafar A et al.
International Journal of Molecular Sciences, 2025
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.
Vincke L et al.
Npj Genomic Medicine, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.
Méndez-Vidal C et al.
Journal of Translational Medicine, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Lin S et al.
Ophthalmology. Retina, 2024
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry.
Lopez-de la Rosa A et al.
Orphanet Journal of Rare Diseases, 2024
Avidity sequencing of whole genomes from retinal degeneration pedigrees identifies causal variants.
Biswas P et al.
Plos One, 2024
CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History.
Daich Varela M et al.
Ophthalmology. Retina, 2023
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
Peter VG et al.
Pnas Nexus, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Genetic dissection of non-syndromic retinitis pigmentosa.
Bhardwaj A et al.
Indian Journal of Ophthalmology, 2022
Genetics of Inherited Retinal Diseases in Understudied Populations.
Kannabiran C et al.
Frontiers in Genetics, 2022
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
Biswas P et al.
Plos Genetics, 2021
Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.
Azab B et al.
Genes, 2021
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L et al.
Investigative Ophthalmology & Visual Science, 2021
Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.
Downes SM et al.
Genes, 2020
CERKL mutation causing retinitis pigmentosa(RP) in Indian population - a genotype and phenotype correlation study.
Sen P et al.
Ophthalmic Genetics, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.
Zenteno JC et al.
Molecular Genetics & Genomic Medicine, 2020
Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families.
Nadeem R et al.
Human Genome Variation, 2020
A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants.
Wolock CJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling.
Bolinches-Amorós A et al.
Stem Cell Research, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Novel CERKL variant in consanguineous Jordanian pedigrees with inherited retinal dystrophies.
Azab B et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2019
Hyperautofluorescent Dots are Characteristic in Ceramide Kinase Like-associated Retinal Degeneration.
Sengillo JD et al.
Scientific Reports, 2019
Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.
Tayebi N et al.
Molecular Vision, 2019
A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.
Ezquerra-Inchausti M et al.
Scientific Reports, 2018
A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.
Avela K et al.
Acta Ophthalmologica, 2018
Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.
Wang X et al.
Bmc Ophthalmology, 2017
CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish.
Yu S et al.
Human Molecular Genetics, 2017
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.
Bravo-Gil N et al.
Scientific Reports, 2017
A Cost-Effective Mutation Screening Strategy for Inherited Retinal Dystrophies.
Barandika O et al.
Ophthalmic Research, 2016
Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.
Matsui R et al.
Investigative Ophthalmology & Visual Science, 2015
The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.
van Huet RA et al.
Molecular Vision, 2015
Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
Méndez-Vidal C et al.
Bmc Genetics, 2014
Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.
Sánchez-Alcudia R et al.
Investigative Ophthalmology & Visual Science, 2014
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
Coppieters F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
Wang J et al.
Investigative Ophthalmology & Visual Science, 2014