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Human Molecular Genetics|May 20, 2004
Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndromeSally H Cross, Joanne E Morgan, Alexandre Pattyn, et al.
Investigative Ophthalmology & Visual Science|July 3, 2019
Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the MouseSally H Cross, Lisa Mckie, Margaret Keighren, et al.
Pigment Cell & Melanoma Research|May 13, 2025
A Dominant Mutation in G<sub>α</sub>s-Protein Increases Hair PigmentationPhilip S Goff, Peter Budd, Darren W Logan, et al.
Plos Genetics|April 3, 2020
The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specificationSally H Cross, Lisa Mckie, Toby W Hurd, et al.
Investigative Ophthalmology & Visual Science|March 5, 2015
Mouse slc9a8 mutants exhibit retinal defects due to retinal pigmented epithelium dysfunctionShalini Jadeja, Alun R Barnard, Lisa McKie, et al.
Genes|July 27, 2022
The <i>Dct</i> Mouse Model to Unravel Retinogenesis Misregulation in Patients with AlbinismAngèle Tingaud-Sequeira, Elina Mercier, Vincent Michaud, et al.
Plos Genetics|December 4, 2009
Palmitoylation regulates epidermal homeostasis and hair follicle differentiationPleasantine Mill, Angela W S Lee, Yuko Fukata, et al.
Human Molecular Genetics|September 15, 2005
Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathyTom Van Agtmael, Ursula Schlötzer-Schrehardt, Lisa McKie, et al.
Human Molecular Genetics|April 4, 2002
Novel ENU-induced eye mutations in the mouse: models for human eye diseaseCaroline Thaung, Katrine West, Brian J Clark, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2020
Dopachrome tautomerase variants in patients with oculocutaneous albinismPerrine Pennamen, Angèle Tingaud-Sequeira, Iveta Gazova, et al.
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