Associated Papers
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
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
A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients.
Aweidah H et al.
Molecular Vision, 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
Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.
Sun W et al.
Molecular Vision, 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
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.
Burkard M et al.
The Journal of Clinical Investigation, 2018
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
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
[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