Ophthalmic Genetics

Papers
(The H4-Index of Ophthalmic Genetics is 10. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-09-01 to 2025-09-01.)
ArticleCitations
Further evidence that a specific homozygous CLDN19 variant results in non-syndromic maculopathy and can be mistaken for prior ocular toxoplasmosis infection12
Unilateral posterior polymorphous corneal dystrophy due to a novel ZEB1 gene mutation in a Korean girl12
RPGRIP1 -related retinal disease presenting as isolated cone dysfunction11
Astrocytic hamartoma in a patient heterozygous for RIM1 mutation associated-retinal dystrophy11
An extended phenotype of RP1L1 maculopathy – case report11
Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development10
Ligneous conjunctivitis mimicking preseptal cellulitis in a 3-month-old infant10
X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort10
PNPLA6 disorders: what’s in a name?10
ICAM-1 K469E gene polymorphism, genotype−phenotype correlation, and retinopathy in Type 2 diabetes mellitus patients10
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