Associated Papers
Long-read Sequencing in Inherited Retinal Dystrophies: A Systematic Review.
Ibrahim M et al.
Ophthalmology Science, 2026
Unveiling Endothelial Cell Expression Profiles in FEVR: Identification of Key Genes Associated With Pathological Neovascularisation in a FZD4M105V Mouse Model.
Xu H et al.
Clinical & Experimental Ophthalmology, 2025
Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.
Lähteenoja L et al.
The British Journal of Ophthalmology, 2025
Population-based, first-tier genomic newborn screening in the maternity ward.
Boemer F et al.
Nature Medicine, 2025
Clinical and genetic characteristics and natural history of Finnish families with familial exudative vitreoretinopathy due to pathogenic FZD4 variants.
Lähteenoja L et al.
Acta Ophthalmologica, 2025
Genotype-Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes.
Yaylacioglu Tuncay F et al.
Investigative Ophthalmology & Visual Science, 2025
Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.
van der Ende S et al.
Investigative Ophthalmology & Visual Science, 2025
Early Onset High Myopia and Severe Anisometropia Associated With Familial Exudative Vitreoretinopathy of Irregular Dominant Inheritance in 11 Chinese Families: Analysis of Refraction Features and Pathogenic Variations.
Cheng WY et al.
Genetics Research, 2025
Expanding the Mutation Spectrum for Inherited Retinal Diseases.
Lynn J et al.
Genes, 2024
Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes.
Maggi J et al.
International Journal of Molecular Sciences, 2024
Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations.
Dai E et al.
Investigative Ophthalmology & Visual Science, 2024
Screening Mutations of the Monogenic Syndromic High Myopia by Whole Exome Sequencing From MAGIC Project.
Chen C et al.
Investigative Ophthalmology & Visual Science, 2024
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.
Jiang Y et al.
Journal of Translational Medicine, 2024
Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome.
Le V et al.
Cells, 2023
A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.
Zhao R et al.
Clinical Genetics, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy.
Mao J et al.
Annals of Medicine, 2022
Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4.
van der Ende SR et al.
Jama Ophthalmology, 2022
Mutation spectrum in a cohort with familial exudative vitreoretinopathy.
Qu N et al.
Molecular Genetics & Genomic Medicine, 2022
FZD4 in a Large Chinese Population With Familial Exudative Vitreoretinopathy: Molecular Characteristics and Clinical Manifestations.
Lu J et al.
Investigative Ophthalmology & Visual Science, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes.
Cicerone AP et al.
Genes, 2022
Decrease of FZD4 exon 1 methylation in probands from FZD4-associated FEVR family of phenotypic heterogeneity.
Liu M et al.
Frontiers in Medicine, 2022
Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR.
Trang DT et al.
Molecular Vision, 2022
Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.
Tao T et al.
Investigative Ophthalmology & Visual Science, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Jiman OA et al.
European Journal of Human Genetics : Ejhg, 2020
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/β-Catenin Signaling Pathway.
Han S et al.
Biomed Research International, 2020
Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases.
Li Y et al.
Journal of Ophthalmology, 2020
Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape.
Milhem RM et al.
Molecular Medicine (cambridge, Mass.), 2019
Early vitrectomy to reverse macular dragging in a one-month-old boy with familial exudative vitreoretinopathy.
Iwata A et al.
American Journal of Ophthalmology Case Reports, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Molecular evolutionary and structural analysis of familial exudative vitreoretinopathy associated FZD4 gene.
Seemab S et al.
Bmc Evolutionary Biology, 2019
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.
Wang P et al.
Translational Vision Science & Technology, 2019
Variable reduction in Norrin signaling activity caused by novel mutations in FZD4 identified in patients with familial exudative vitreoretinopathy.
Tian T et al.
Molecular Vision, 2019
Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums.
Xiao H et al.
Journal of Ophthalmology, 2019
Spectrum of Variants in 389 Chinese Probands With Familial Exudative Vitreoretinopathy.
Li JK et al.
Investigative Ophthalmology & Visual Science, 2018
The characteristics of digenic familial exudative vitreoretinopathy.
Li Y et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2018