Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.
Ullah M et al.
Npj Genomic Medicine, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival.
Liu Y et al.
International Journal of Molecular Sciences, 2022
Forty-seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs.
Zlotogora J
Clinical Genetics, 2021
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.
Wang L et al.
Genes, 2018
Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
Chen X et al.
Journal of Translational Medicine, 2018
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.
Khan AO et al.
Ophthalmic Genetics, 2016
A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy.
Rahner N et al.
Ophthalmic Genetics, 2016
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).
Heon E et al.
Human Molecular Genetics, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.
Ravesh Z et al.
Molecular Vision, 2015
Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.
Sharon D et al.
Molecular Vision, 2015
Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.
Lazar CH et al.
Investigative Ophthalmology & Visual Science, 2014
Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.
van Huet RA et al.
Investigative Ophthalmology & Visual Science, 2013
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
Estrada-Cuzcano A et al.
American Journal of Human Genetics, 2012