Associated Papers
Novel mutation in CNNM4 gene in a Chinese family with Jalili syndrome and literature review.
Lu J et al.
International Journal of Ophthalmology, 2025
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
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
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Features, genetics and their correlation in Jalili syndrome: a systematic review.
Daneshmandpour Y et al.
Journal of Medical Genetics, 2019
Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.
Li S et al.
Molecular Genetics and Genomics : Mgg, 2018
Intra-familial phenotype variability in patients with Jalili syndrome.
Gerth-Kahlert C et al.
Eye (london, England), 2015
Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.
Doucette L et al.
Ophthalmic Genetics, 2013
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.
Parry DA et al.
American Journal of Human Genetics, 2009
Select a paper to view details