Associated Papers
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
Detailed Comparison Between Two Main Phenotypes of CRB1-Related Retinal Dystrophy, Pan-retinopathy and Maculopathy.
Zou X et al.
Investigative Ophthalmology & Visual Science, 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
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study.
Wang MY et al.
Journal of Medical Genetics, 2024
Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.
Abu Elasal M et al.
Genes, 2024
Characteristics of Eyes With CRB1-Associated EOSRD/LCA: Age-Related Changes.
Ayash J et al.
American Journal of Ophthalmology, 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
Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel.
Shalom S et al.
Genes, 2024
Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis.
Daher A et al.
Bmc Ophthalmology, 2024
A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility.
Sylla MM et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.
Daich Varela M et al.
American Journal of Ophthalmology, 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
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
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
Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.
Azab B et al.
Genes, 2021
Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority.
Mayer AK et al.
European Journal of Human Genetics : Ejhg, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.
Srilekha S et al.
Plos One, 2015
Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.
Sharon D et al.
Molecular Vision, 2015
Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.
Yücel-Yılmaz D et al.
Dna and Cell Biology, 2014
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
Watson CM et al.
Plos One, 2014
Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations.
Beryozkin A et al.
Investigative Ophthalmology & Visual Science, 2013
Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma.
Jiang D et al.
Molecular Vision, 2013
CRB1 mutations in inherited retinal dystrophies.
Bujakowska K et al.
Human Mutation, 2012
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.
Henderson RH et al.
The British Journal of Ophthalmology, 2011
Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos.
Zenteno JC et al.
American Journal of Medical Genetics. Part A, 2011
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Walia S et al.
Ophthalmology, 2010
Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.
Benayoun L et al.
American Journal of Medical Genetics. Part A, 2009
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.
Henderson RH et al.
Investigative Ophthalmology & Visual Science, 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
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
Simonelli F et al.
Investigative Ophthalmology & Visual Science, 2007
A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.
Abouzeid H et al.
Ophthalmic Genetics, 2006
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Hanein S et al.
Human Mutation, 2004