Associated Papers
Translational readthrough using TRIDs - Achievements and challenges for the treatment of inherited retinal disorders.
Nagel-Wolfrum K et al.
Molecular Aspects of Medicine, 2026
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families.
Marwan M et al.
Bmc Ophthalmology, 2023
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.
Bizzari S et al.
Genes, 2021
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
MERTK mutation update in inherited retinal diseases.
Audo I et al.
Human Mutation, 2018
Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs.
Ramsden CM et al.
Scientific Reports, 2017
A Comprehensive Review of Mutations in the MERTK Proto-Oncogene.
Parinot C et al.
Advances in Experimental Medicine and Biology, 2016
A novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa.
Jinda W et al.
Molecular Vision, 2016
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
Wang J et al.
Investigative Ophthalmology & Visual Science, 2014
Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
Clark GR et al.
Ophthalmology, 2010
Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.
Shahzadi A et al.
The British Journal of Ophthalmology, 2010
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.
Mackay DS et al.
Molecular Vision, 2010
Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa.
Brea-Fernández AJ et al.
The British Journal of Ophthalmology, 2008
Retinitis pigmentosa: mutations in a receptor tyrosine kinase gene, MERTK.
Kumar A
Journal of Biosciences, 2001
Mutations in SDHC cause autosomal dominant paraganglioma, type 3.
Niemann S et al.
Nature Genetics, 2000
Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.
Gal A et al.
Nature Genetics, 2000
Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.
Ksantini M et al.
European Journal of Ophthalmology, 0