- 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
Padma Gunda et al, 2018, Journal of Genetics CrossRef - Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract
Aixia Jin et al, 2022, Frontiers in Cell and Developmental Biology CrossRef - Evaluating gap junction variants for a role in pediatric cataract: an overview of the genetic landscape and clinical classification of variants in the GJA3 and GJA8 genes
Johanna L Jones et al, 2023, Expert Review of Ophthalmology CrossRef