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
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
Linking Protein Stability to Pathogenicity: Predicting Clinical Significance of Single-Missense Mutations in Ocular Proteins Using Machine Learning.
Majid I et al.
International Journal of Molecular Sciences, 2024
Whole-Exome Sequencing Improves Understanding of Inherited Retinal Dystrophies in Korean Patients.
Park Y et al.
Current Issues in Molecular Biology, 2024
Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing.
Sather R et al.
International Journal of Molecular Sciences, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss.
Morgan A et al.
Biomedicines, 2021
Autosomal dominant retinitis pigmentosa with toxic gain of function: Mechanisms and therapeutics.
Narasimhan I et al.
European Journal of Ophthalmology, 2021
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L et al.
Investigative Ophthalmology & Visual Science, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa.
Oh JK et al.
Orphanet Journal of Rare Diseases, 2019
Kelch-like proteins: Physiological functions and relationships with diseases.
Shi X et al.
Pharmacological Research, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.
Del-Toro N et al.
Nature Communications, 2019
New macular findings in individuals with biallelic KLHL7 gene mutation.
Heng LZ et al.
Bmj Open Ophthalmology, 2019
KLHL7 promotes TUT1 ubiquitination associated with nucleolar integrity: Implications for retinitis pigmentosa.
Kim J et al.
Biochemical and Biophysical Research Communications, 2017
Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service.
Khan KN et al.
Clinical Genetics, 2017
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Angius A et al.
American Journal of Human Genetics, 2016
The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa.
Yoon CK et al.
Bmc Genomics, 2015
Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP).
Daiger SP et al.
Advances in Experimental Medicine and Biology, 2014
The ubiquitin-proteasome system in retinal health and disease.
Campello L et al.
Molecular Neurobiology, 2013
Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.
Wen Y et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2011
Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation.
Kigoshi Y et al.
The Journal of Biological Chemistry, 2011
Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing.
Bowne SJ et al.
Investigative Ophthalmology & Visual Science, 2011
Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.
Hugosson T et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2010
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.
Friedman JS et al.
American Journal of Human Genetics, 2009