Associated Papers
Genetic Landscape and Clinical Characterization of FRMD7-Related Infantile Nystagmus Based on Large In-House Datasets and Literature Review.
Liu S et al.
Investigative Ophthalmology & Visual Science, 2026
Functional analysis of a novel segment deletion in the FRMD7 gene causing X-linked idiopathic congenital nystagmus.
Zhao X et al.
Genomics, 2025
Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome.
Gong X et al.
Investigative Ophthalmology & Visual Science, 2025
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D et al.
Jama Network Open, 2024
Ocular findings and genomics of X-linked recessive disorders: A review.
Hassan A et al.
Indian Journal of Ophthalmology, 2022
Prospective study of pediatric patients presenting with idiopathic infantile nystagmus-Management and molecular diagnostics.
Aychoua N et al.
Frontiers in Genetics, 2022
X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature review.
Liu F et al.
Frontiers in Ophthalmology, 2022
Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.
Moon D et al.
Genes, 2021
Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndrome.
Choi JH et al.
Ophthalmic Genetics, 2021
Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus.
Wang XF et al.
Frontiers in Cell and Developmental Biology, 2021
SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.
Kuht HJ et al.
Human Molecular Genetics, 2020
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.
Jackson D et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
A Disease-Causing FRMD7 Variant in a Chinese Family with Infantile Nystagmus.
Wu S et al.
Journal of Molecular Neuroscience : Mn, 2019
Identification of a novel idiopathic congenital nystagmus‑causing missense mutation, p.G296C, in the FRMD7 gene.
Xiu Y et al.
Molecular Medicine Reports, 2018
Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome.
Choi JH et al.
Investigative Ophthalmology & Visual Science, 2018
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.
AlMoallem B et al.
Investigative Ophthalmology & Visual Science, 2015
A FRMD7 variant in a Japanese family causes congenital nystagmus.
Kohmoto T et al.
Human Genome Variation, 2015
Exome sequencing of two patients in a family with atypical X-linked leukodystrophy.
Tsurusaki Y et al.
Clinical Genetics, 2011