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Disease Models & Mechanisms|November 28, 2018
Mouse <i>Idh3a</i> mutations cause retinal degeneration and reduced mitochondrial functionAmy S Findlay, Roderick N Carter, Becky Starbuck, et al.
Disease Models & Mechanisms|April 26, 2014
A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeletonSarah M Carpanini, Lisa McKie, Derek Thomson, et al.
Nature Communications|May 21, 2024
Ciliary tip actin dynamics regulate photoreceptor outer segment integrityRoly Megaw, Abigail Moye, Zhixian Zhang, et al.
Plos Genetics|May 10, 2014
A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected]Sally H Cross, Danilo G Macalinao, Lisa McKie, et al.
Elife|February 15, 2023
Centriolar satellites expedite mother centriole remodeling to promote ciliogenesisEmma A Hall, Dhivya Kumar, Suzanna L Prosser, et al.
Plos One|November 22, 2022
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmiaHildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, et al.
American Journal of Human Genetics|April 26, 2016
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative EffectMeriel McEntagart, Kathleen A Williamson, Jacqueline K Rainger, et al.
Plos Genetics|July 14, 2011
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and miceJoe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, et al.
Plos Genetics|December 27, 2018
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and MiceJoe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, et al.
American Journal of Human Genetics|April 18, 2017
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic ProteinsEmma A Hall, Michael S Nahorski, Lyndsay M Murray, et al.
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