Margaret Keighren

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.

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

The paper introduces FIVER, a multispectral reporter for in vivo genome editing that detects NHEJ, HDR, and HITI with fluorescent read-outs, demonstrating its utility in primary cells, organoids, and in vivo models.

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