Lisa McKie

The paper identifies common early defects in autophagy and mitochondrial damage in multiple IRD models, leading to necroptosis and photoreceptor loss, suggesting potential gene-agnostic therapeutic targets.

The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.

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

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

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.