Associated Papers
Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel.
Birch DG et al.
Translational Vision Science & Technology, 2023
Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy.
Georgiou M et al.
Orphanet Journal of Rare Diseases, 2021
Candidate Genetic Modifiers for RPGR Retinal Degeneration.
Appelbaum T et al.
Investigative Ophthalmology & Visual Science, 2020
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
30026549 (PubMed )
Supplement: 41598_2018_29279_MOESM1_ESM.pdf
A Transposon Screen Identifies Loss of Primary Cilia as a Mechanism of Resistance to SMO Inhibitors.
Zhao X et al.
Cancer Discovery, 2017
28923910 (PubMed )
Supplement: 21598290cd170281-sup-180587_2_supp_4253409_2vv5jv.xls › untreated
Photoreceptor Cilia and Retinal Ciliopathies.
Bujakowska KM et al.
Cold Spring Harbor Perspectives in Biology, 2017
The background puzzle: how identical mutations in the same gene lead to different disease symptoms.
Kammenga JE
The Febs Journal, 2017
Genetic modifiers and oligogenic inheritance.
Kousi M et al.
Cold Spring Harbor Perspectives in Medicine, 2015
The effects of non-synonymous single nucleotide polymorphisms (nsSNPs) on protein-protein interactions.
Yates CM et al.
Journal of Molecular Biology, 2013
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN et al.
Human Genetics, 2013
Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis.
Barbelanne M et al.
Human Molecular Genetics, 2013
Non-syndromic retinal ciliopathies: translating gene discovery into therapy.
Estrada-Cuzcano A et al.
Human Molecular Genetics, 2012
Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.
Fahim AT et al.
Advances in Experimental Medicine and Biology, 2012
Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.
Fahim AT et al.
Plos One, 2011
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