Associated Papers
Functional and pathogenic insights into CNNM4 variants in Jalili syndrome.
Rattanapornsompong K et al.
Scientific Reports, 2024
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
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3
Mg2+-ATP Sensing in CNNM, a Putative Magnesium Transporter.
Chen YS et al.
Structure (london, England : 1993), 2020
A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations.
Parveen A et al.
Molecular Genetics & Genomic Medicine, 2019
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
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.
Abu-Safieh L et al.
Genome Research, 2013
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