Associated Papers
Novel ATF6 homozygous variant in a Chinese patient with achromatopsia.
Wu S et al.
Ophthalmic Genetics, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM23_ESM.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
Residual risk for additional recessive diseases in consanguineous couples.
AlAbdi L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.
Patel N et al.
Clinical Genetics, 2018
Use of HLA peptidomics and whole exome sequencing to identify human immunogenic neo-antigens.
Kalaora S et al.
Oncotarget, 2016
26819371 (PubMed )
Supplement: oncotarget-07-5110-s002.xlsx › Genome_sequencing
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