Associated Papers
CDHR1-Associated Retinal Dystrophies: Expanding the Clinical and Genetic Spectrum with a Hungarian Cohort.
Takács Á et al.
Genes, 2026
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Hypomorphic CDHR1 variants may result in retinitis pigmentosa with relative preservation of cone function.
Farag S et al.
Ophthalmic Genetics, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.
Jahn N et al.
Leukemia, 2022
Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies.
Kamenarova K et al.
Molecular Genetics & Genomic Medicine, 2022
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Falsini B et al.
Scientific Reports, 2022
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.
Maltese PE et al.
Frontiers in Genetics, 2022
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophy.
Mermeklieva E et al.
Ophthalmic Genetics, 2021
A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy.
Ba-Abbad R et al.
Eye (london, England), 2021
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 2021
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L et al.
Investigative Ophthalmology & Visual Science, 2021
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 2020
A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping.
Charbel Issa P et al.
Investigative Ophthalmology & Visual Science, 2019
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants.
Haque MN et al.
Human Genome Variation, 2019
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Birtel J et al.
Scientific Reports, 2018
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.
Arno G et al.
Investigative Ophthalmology & Visual Science, 2016
Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature.
Bessette AP et al.
Ophthalmic Genetics, 0