Associated Papers
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Unravelling CYP4V2: Clinical features, genetic insights, pathogenic mechanisms and therapeutic strategies in Bietti crystalline corneoretinal dystrophy.
Jia R et al.
Progress in Retinal and Eye Research, 2025
Evaluating precision medicine approaches for gene therapy in patient-specific cellular models of Bietti crystalline dystrophy.
Li Y et al.
Jci Insight, 2024
Bietti's crystalline dystrophy: genotyping and deep qualitative and quantitative phenotyping in preparation for clinical trials.
Li Q et al.
The British Journal of Ophthalmology, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations.
Sahin I et al.
Cureus, 2024
Clinical and genetic characterization of a large cohort of Chinese patients with Bietti crystalline retinopathy.
Li H et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2024
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy.
Hanany M et al.
Translational Vision Science & Technology, 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
Non-vasogenic cystoid maculopathies.
Gaudric A et al.
Progress in Retinal and Eye Research, 2022
PREDICTED PROTEIN STRUCTURE VARIATIONS INDICATE THE CLINICAL PRESENTATION OF CYP4V2-RELATED BIETTI CRYSTALLINE DYSTROPHY.
Chan LW et al.
Retina (philadelphia, Pa.), 2022
Genotype and Ocular Phenotype in Sixteen Chinese Patients with Bietti Corneoretinal Crystalline Dystrophy.
Dai H et al.
Current Eye Research, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy.
Louati Y et al.
Ophthalmic Genetics, 2021
Observation of the characteristics of the natural course of Bietti crystalline dystrophy by fundus fluorescein angiography.
Zhang S et al.
Bmc Ophthalmology, 2021
Identification and functional characterization of CYP4V2 genetic variants exhibiting decreased activity of lauric acid metabolism.
Jarrar YB et al.
Annals of Human Genetics, 2020
Autofluorescence of choroidal vessels in Bietti's crystalline dystrophy.
Ameri H et al.
Bmj Open Ophthalmology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
CYP4V2 mutation screening in an Iranian Bietti crystalline dystrophy pedigree and evidence for clustering of CYP4V2 mutations.
Darki F et al.
Journal of Current Ophthalmology, 2019
Current perspectives in Bietti crystalline dystrophy.
García-García GP et al.
Clinical Ophthalmology (auckland, N.z.), 2019
Identification of novel CYP4V2 genotypes associated with Bietti crystalline dystrophy and atypical anterior segment phenotypes in Spanish patients.
García-García GP et al.
Acta Ophthalmologica, 2018
Comprehensive screening of CYP4V2 in a cohort of Chinese patients with Bietti crystalline dystrophy.
Zhang X et al.
Molecular Vision, 2018
Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.
Jiao X et al.
European Journal of Human Genetics : Ejhg, 2017
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.
Astuti GD et al.
Molecular Genetics & Genomic Medicine, 2015
Genotype-phenotype analysis of Bietti crystalline dystrophy in a family with the CYP4V2 Ile111Thr mutation.
García-García GP et al.
Cornea, 2013
A novel mutation in the CYP4V2 gene in a Chinese patient with Bietti's crystalline dystrophy.
Song Y et al.
International Ophthalmology, 2013
Clinical and genetic features in Italian Bietti crystalline dystrophy patients.
Rossi S et al.
The British Journal of Ophthalmology, 2013
Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation.
Haddad NM et al.
Molecular Vision, 2012
Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy.
Xiao X et al.
Biochemical and Biophysical Research Communications, 2011
An atypical form of Bietti crystalline dystrophy.
Rossi S et al.
Ophthalmic Genetics, 2011
Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states.
Kelly EJ et al.
Molecular Interventions, 2011
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.
Li A et al.
American Journal of Human Genetics, 2004