Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
MERTK retinopathy: biomarkers assessing vision loss.
Sakti DH et al.
Ophthalmic Genetics, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
MERTK mutation update in inherited retinal diseases.
Audo I et al.
Human Mutation, 2018
A novel MERTK mutation causing retinitis pigmentosa.
Al-Khersan H et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 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
MERTK interactions with SH2-domain proteins in the retinal pigment epithelium.
Shelby SJ et al.
Plos One, 2013
Next-generation genetic testing for retinitis pigmentosa.
Neveling K et al.
Human Mutation, 2012
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
Structural insights into the inhibited states of the Mer receptor tyrosine kinase.
Huang X et al.
Journal of Structural Biology, 2009
Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa.
Brea-Fernández AJ et al.
The British Journal of Ophthalmology, 2008
Leber congenital amaurosis: genes, proteins and disease mechanisms.
den Hollander AI et al.
Progress in Retinal and Eye Research, 2008
Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene.
Tschernutter M et al.
The British Journal of Ophthalmology, 2006
MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells.
McHenry CL et al.
Investigative Ophthalmology & Visual Science, 2004
Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.
Ksantini M et al.
European Journal of Ophthalmology, 0