Author

R. Leibu

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Open access Aug 2026

Characterization of Ocular Developmental Disorders in the Israeli Population: Genotype–Phenotype Correlations and Novel Candidate Genes

The results further demonstrate the genetic heterogeneity of MAC, while supporting the involvement of complex inheritance and/or environmental factors in many of the cases.

Yakov Rabinovich, Y. Vardizer, Shirley Pincovich et al. · Biomolecules · 0 citations

Open access Aug 2026

The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations

Findings further support AP5B1 as a cause of macular dystrophy, identify p.(Leu785Pro) as a relatively frequent pathogenic allele in individuals of European and Ashkenazi Jewish ancestry, and expand the associated phenotypic spectrum to include both isolated macular dystrophy and possible syndromic presentations.

Petra Liskova, L. Dudakova, Karolina Kaminska et al. · HGG advances · 0 citations