Associated Papers
CLINICAL FEATURES OF MERTK -RELATED RETINOPATHY.
Khan AO
Retina (philadelphia, Pa.), 2026
Exploring the Genetic Causes of Nonsyndromic Retinal Dystrophies in Qatar.
Abiib S et al.
Genes, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
The genetics of rod-cone dystrophy in Arab countries: a systematic review.
Jaffal L et al.
European Journal of Human Genetics : Ejhg, 2021
PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.
Khan AO
Retina (philadelphia, Pa.), 2020
The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.
Méjécase C et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.
Boulanger-Scemama E et al.
International Journal of Molecular Sciences, 2019
MERTK mutation update in inherited retinal diseases.
Audo I et al.
Human Mutation, 2018
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 2016
Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial.
Ghazi NG et al.
Human Genetics, 2016
A Comprehensive Review of Mutations in the MERTK Proto-Oncogene.
Parinot C et al.
Advances in Experimental Medicine and Biology, 2016
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.
Yavarna T et al.
Human Genetics, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
Boulanger-Scemama E et al.
Orphanet Journal of Rare Diseases, 2015
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
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
Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.
Ksantini M et al.
European Journal of Ophthalmology, 0