Associated Papers
Genetic spectrum of congenital cataract with optional ocular and multisystem abnormalities.
Zhang H et al.
Bmc Medical Genomics, 2025
Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing.
Türkyılmaz A et al.
International Ophthalmology, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes
Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.
Bell S et al.
Genes, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.
Jackson D et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Mutation screening of crystallin genes in Chinese families with congenital cataracts.
Zhuang J et al.
Molecular Vision, 2019
Novel mutations in CRYBB1/CRYBB2 identified by targeted exome sequencing in Chinese families with congenital cataract.
Chen P et al.
International Journal of Ophthalmology, 2018
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
Ma AS et al.
Human Mutation, 2016
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