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
Novel Genotype-Phenotype Correlations in CRB1-Retinopathies: Insights from Isoforms and Protein Domains Linked to Disease Severity.
Rodriguez-Martinez AC et al.
Ophthalmology Science, 2026
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
The Specific Pathogenicity Pattern of the Different CRB1 Isoforms Conditions Clinical Severity in Inherited Retinal Dystrophies.
Siles L et al.
International Journal of Molecular Sciences, 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
Cystoid Macular Lesions in Inherited Retinal Diseases: Prevalence, Characteristics, and Genetic Associations in a Hungarian Cohort.
Asboth B et al.
Genes, 2025
Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2025
Elevated Visual Crowding in CRB1-Associated Retinopathies: Understanding Functional Visual Deficits Using Child-Friendly Computerized Testing.
Rodriguez-Martinez AC et al.
Investigative Ophthalmology & Visual Science, 2025
Retinitis Pigmentosa and Retinal Neovascularization in a Patient With a Heterozygous Mutation in the CRB1 Gene: A Case Report.
Castro J et al.
Cureus, 2025
Expanding the Clinical Spectrum of CRB1-Retinopathies: A Novel Genotype-Phenotype Correlation with Macular Dystrophy and Elevated Intraocular Pressure.
Rodriguez-Martinez AC et al.
International Journal of Molecular Sciences, 2025
Assessment of CRB1-Associated Retinopathies Using the S-MAIA Fast Protocol and Spectral-Domain Optical Coherence Tomography.
Higgins BE et al.
Biomedicines, 2025
Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies.
Moekotte L et al.
Investigative Ophthalmology & Visual Science, 2025
Assessing Contrast Sensitivity Function in CRB1-Retinopathies: Exploring Child-Friendly Measures of Visual Function.
Rodriguez-Martinez AC et al.
Translational Vision Science & Technology, 2024
OUTER RETINAL COLUMNAR ABNORMALITIES: A Novel Optical Coherence Tomography Sign of CRB1 Maculopathy?
Grimaldi G et al.
Retina (philadelphia, Pa.), 2024
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
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina.
Stehle IF et al.
Life Science Alliance, 2024
Diverse functions and pathogenetic role of Crumbs in retinopathy.
Zhou X et al.
Cell Communication and Signaling : Ccs, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Association of Circulating Antiretinal Antibodies With Clinical Outcomes in Retinitis Pigmentosa.
Bianco L et al.
Investigative Ophthalmology & Visual Science, 2023
Foveal Hypoplasia in CRB1-Related Retinopathies.
Rodriguez-Martinez AC et al.
International Journal of Molecular Sciences, 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
CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.
Daich Varela M et al.
American Journal of Ophthalmology, 2023
Optical Coherence Tomography Angiography in CRB1-Associated Retinal Dystrophies.
Rajabian F et al.
Journal of Clinical Medicine, 2023
Clinical and Therapeutic Evaluation of the Ten Most Prevalent CRB1 Mutations.
Lopes da Costa B et al.
Biomedicines, 2023
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
Analysis of CRB1 Pathogenic Variants Correctable with CRISPR Base and Prime Editing.
da Costa BL et al.
Advances in Experimental Medicine and Biology, 2023
Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas.
Basel-Salmon L et al.
Genetics in Medicine Open, 2023
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
A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review.
Duan W et al.
Bmc Medical Genomics, 2022
Genetic analysis of patients with nonsyndromic and syndromic retinitis pigmentosa in Puerto Rico: a genetic legacy.
Vargas JG et al.
Ophthalmic Genetics, 2022
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.
Iancu IF et al.
International Journal of Molecular Sciences, 2022
CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up.
Talib M et al.
The British Journal of Ophthalmology, 2022
Identification of a novel CRB1 variant in a compound heterozygous state in a patient with CRB1-associated maculopathy and foveal retinoschisis.
Cheng Z et al.
Ophthalmic Genetics, 2022
Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.
Zhu J et al.
Genes, 2022
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.
Mairot K et al.
International Journal of Molecular Sciences, 2021
The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.
Villanueva-Mendoza C et al.
Genes, 2021
Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.
Talib M et al.
Acta Ophthalmologica, 2021
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.
Iancu IF et al.
Npj Genomic Medicine, 2021
Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1-Associated Retinopathies.
Roshandel D et al.
Translational Vision Science & Technology, 2021
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 2021