Associated Papers
Clinical and Molecular Presentation of a Patient with Paternal Uniparental Isodisomy of Chromosome 16.
Panchenko E et al.
International Journal of Molecular Sciences, 2025
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 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
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Longitudinal Assessment of OCT-Based Measures of Foveal Cone Structure in Achromatopsia.
Grissim G et al.
Investigative Ophthalmology & Visual Science, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
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
Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies.
Tekavčič Pompe M et al.
Current Issues in Molecular Biology, 2021
Whole-Genome Sequencing in Diagnostics of Selected Slovenian Undiagnosed Patients with Rare Disorders.
Bergant G et al.
Life (basel, Switzerland), 2021
Intraobserver Repeatability and Interobserver Reproducibility of Foveal Cone Density Measurements in CNGA3- and CNGB3-Associated Achromatopsia.
Georgiou M et al.
Translational Vision Science & Technology, 2020
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Weisschuh N et al.
Human Mutation, 2020
Molecular genetic cause of achromatopsia in two patients of Czech origin.
Hlavatá L et al.
Ceska a Slovenska Oftalmologie : Casopis Ceske Oftalmologicke Spolecnosti a Slovenske Oftalmologicke Spolecnosti, 2019
Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia.
Matet A et al.
Scientific Reports, 2018
Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.
Wawrocka A et al.
Molecular Vision, 2018
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
Mayer AK et al.
Human Mutation, 2017
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Haer-Wigman L et al.
European Journal of Human Genetics : Ejhg, 2017
Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia.
Langlo CS et al.
Investigative Ophthalmology & Visual Science, 2016
[Clinical Tests Testing New Therapies for Stargardt Disease].
Kousal B et al.
Ceska a Slovenska Oftalmologie : Casopis Ceske Oftalmologicke Spolecnosti a Slovenske Oftalmologicke Spolecnosti, 2016
Five novel CNGB3 gene mutations in Polish patients with achromatopsia.
Wawrocka A et al.
Molecular Vision, 2014
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
Lazarin GA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.
Thiadens AA et al.
Ophthalmology, 2010
Genetic etiology and clinical consequences of complete and incomplete achromatopsia.
Thiadens AA et al.
Ophthalmology, 2009
CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.
Khan NW et al.
Investigative Ophthalmology & Visual Science, 2007
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
Nishiguchi KM et al.
Human Mutation, 2005
[Genetic structure of populations and characteristics of geographic distribution of autosomal recessive diseases in the Kirov region].
Ginter EK et al.
Genetika, 1994
[Gene Therapy for Inherited RETINAL AND OPTIC NERVE Disorders: Current Knowledge].
Ďuďáková Ľ et al.
Ceska a Slovenska Oftalmologie : Casopis Ceske Oftalmologicke Spolecnosti a Slovenske Oftalmologicke Spolecnosti, 0
[Preimplantation genetic diagnosis and monogenic inherited eye diseases].
Hlavatá L et al.
Ceska a Slovenska Oftalmologie : Casopis Ceske Oftalmologicke Spolecnosti a Slovenske Oftalmologicke Spolecnosti, 0