Associated Papers
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
Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.
Abualsaud D et al.
American Journal of Medical Genetics. Part A, 2021
Structure and activation mechanism of the BBSome membrane protein trafficking complex.
Singh SK et al.
Elife, 2020
Characterizing the morbid genome of ciliopathies.
Shaheen R et al.
Genome Biology, 2016
27894351 (PubMed )
Supplement: 13059_2016_1099_MOESM2_ESM.xlsx › Sheet1
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
Patel N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
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