Associated Papers
Panel-Based Genetic Testing in a Consecutive Series of Individuals with Inherited Retinal Diseases in Australia: Identifying Predictors of a Diagnosis.
Britten-Jones AC et al.
Genes, 2025
40869936 (PubMed )
Supplement: genes-16-00888-s001.zip › genes-3753886-Supplemental_materials.pdf
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.
Kulyamzin S et al.
Genes, 2025
40725402 (PubMed )
Supplement: genes-16-00745-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.
Prasov L et al.
American Journal of Medical Genetics. Part A, 2020
Features, genetics and their correlation in Jalili syndrome: a systematic review.
Daneshmandpour Y et al.
Journal of Medical Genetics, 2019
Intra-familial phenotype variability in patients with Jalili syndrome.
Gerth-Kahlert C et al.
Eye (london, England), 2015
Purification, crystallization and preliminary crystallographic analysis of the CBS pair of the human metal transporter CNNM4.
Gómez García I et al.
Acta Crystallographica. Section F, Structural Biology and Crystallization Communications, 2011
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.
Polok B et al.
American Journal of Human Genetics, 2009
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