Associated Papers
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.
Kunisetty B et al.
Investigative Ophthalmology & Visual Science, 2024
38502138 (PubMed )
Supplement: iovs-65-3-25_s002.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
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients.
Al Alawi I et al.
F1000research, 2021
Molecular genetic analysis of 30 families with Joubert syndrome.
Suzuki T et al.
Clinical Genetics, 2016
Mutation spectrum of Joubert syndrome and related disorders among Arabs.
Ben-Salem S et al.
Human Genome Variation, 2014
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