Associated Papers
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_MOESM16_ESM.xlsx › Sheet1
Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy.
Aprahamian R et al.
Ophthalmic Genetics, 2021
COL4A1 MUTATIONS IN TWO INFANTS WITH CONGENITAL CATARACTS AND PORENCEPHALY: AN OPHTHALMOLOGIC PERSPECTIVE.
Khan AO
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2019
Detection of c.139G>A (D47N) mutation in GJA8 gene in an extended family with inheritance of autosomal dominant zonular cataract without pulverulent opacities by exome sequencing.
Gunda P et al.
Journal of Genetics, 2018
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
Patel N et al.
Human Genetics, 2017
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