Ian J. Jackson

This study identifies a critical genomic region on the X chromosome linked to anophthalmia in mice but finds no clear causative mutation, suggesting regulatory changes may underlie the phenotype.

This paper investigates the retinal phenotype of Dct-/- mice to understand retinogenesis misregulation in albinism patients.

This study identifies genetic loci associated with eye colour in a Canadian European cohort, highlighting the HERC2/OCA2 region and other genes, and explores their molecular mechanisms.

The paper analyzes pigmentation phenotypes in UK Biobank using DISSECT to identify new candidate genes and explore sex differences and geographic patterns in hair and skin color.

This paper creates a mouse model of Brittle Cornea Syndrome to study the molecular mechanisms of corneal thinning and its pathogenic effects.

This study shows that genetic background affects the severity of glaucoma-related phenotypes in Lmx1b mutant mice, identifies a modifier locus on Chromosome 18, and provides strains with varying phenotypes.

The paper identifies DCT gene variants in two patients with oculocutaneous albinism, demonstrating their association with hypopigmentation and proposing a new subtype, OCA8.

This paper identifies TMEM98 as a regulator of eye size by inhibiting MYRF self-cleavage, leading to abnormal nuclear localization and activation of MYRF in the absence of TMEM98.

The paper identifies TMEM98 mutations in mice that cause retinal defects similar to human nanophthalmos, showing localized photoreceptor laminar disruption rather than small eyes.

The paper maps the genetic architecture of hair colour in the UK population, identifying multiple loci and epistatic interactions contributing to red and blonde hair.