An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy

Reanalysis of genomic data: An overview of the mechanisms and complexities of clinical adoption

(2022) Alan J. Robertson et al.   GENETICS IN MEDICINE

Observation of the characteristics of the natural course of Bietti crystalline dystrophy by fundus fluorescein angiography

(2021) Shengjuan Zhang et al.   BMC Ophthalmology

Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities

(2021) Nina Schneider et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases

(2020) Mor Hanany et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population

(2018) Mor Hanany et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Crystalline Retinopathy: Unifying Pathogenic Pathways of Disease

(2018) Jaclyn L. Kovach et al.   SURVEY OF OPHTHALMOLOGY

Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy

(2017) Xiaodong Jiao et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype

(2016) Satoshi Katagiri et al.   OPHTHALMIC GENETICS

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

(2015) Avigail Beryozkin et al.   Scientific Reports

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(2015)   Molecular Genetics & Genomic Medicine

Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy

(2014) Stephanie Halford et al.   OPHTHALMOLOGY