Associated Papers
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
Assessment of CRB1-Associated Retinopathies Using the S-MAIA Fast Protocol and Spectral-Domain Optical Coherence Tomography.
Higgins BE et al.
Biomedicines, 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
Foveal Hypoplasia in CRB1-Related Retinopathies.
Rodriguez-Martinez AC et al.
International Journal of Molecular Sciences, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.
Daich Varela M et al.
American Journal of Ophthalmology, 2023
In Silico Analysis of Pathogenic CRB1 Single Nucleotide Variants and Their Amenability to Base Editing as a Potential Lead for Therapeutic Intervention.
Bellingrath JS et al.
Genes, 2021
A clinical and molecular characterisation of CRB1-associated maculopathy.
Khan KN et al.
European Journal of Human Genetics : Ejhg, 2018
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 2016
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.
Astuti GD et al.
European Journal of Human Genetics : Ejhg, 2016
HydPred: a novel method for the identification of protein hydroxylation sites that reveals new insights into human inherited disease.
Li S et al.
Molecular Biosystems, 2016
CRB1 mutations in inherited retinal dystrophies.
Bujakowska K et al.
Human Mutation, 2012
Anti-γ-enolase autoimmune retinopathy manifesting in early childhood.
Ko AC et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2010
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007
The N1317H substitution associated with Leber congenital amaurosis results in impaired interdomain packing in human CRB1 epidermal growth factor-like (EGF) domains.
Davis JA et al.
The Journal of Biological Chemistry, 2007
CRB1 mutation spectrum in inherited retinal dystrophies.
den Hollander AI et al.
Human Mutation, 2004
Isolated maculopathy associated with biallelic CRB1 mutations.
Shah N et al.
Ophthalmic Genetics, 0