Associated Papers
Genetic landscape of hereditary cardiomyopathies and arrhythmias in China.
Lu Y et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026
Applying National Whole-genome Sequencing Findings for Rare Diseases in Clinical Practice: The Imperative of a Multidisciplinary Approach.
Park KS et al.
Annals of Laboratory Medicine, 2026
Ophthalmologic manifestations associated with Fukutin (FKTN) variant subtypes in Korean patients with Fukuyama congenital muscular dystrophy: a single-center retrospective case series.
Lee SJ et al.
Bmc Ophthalmology, 2025
Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.
Kim SH et al.
Journal of Korean Medical Science, 2025
Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing.
Shin S et al.
Pediatric Neurology, 2023
Branchpoints as potential targets of exon-skipping therapies for genetic disorders.
Ohara H et al.
Molecular Therapy. Nucleic Acids, 2023
Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center.
Ko YJ et al.
Neuromuscular Disorders : Nmd, 2023
Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant.
Enkhjargal S et al.
Human Molecular Genetics, 2023
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2022
Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.
Moon D et al.
Genes, 2021
Restoration of the defect in radial glial fiber migration and cortical plate organization in a brain organoid model of Fukuyama muscular dystrophy.
Taniguchi-Ikeda M et al.
Iscience, 2021
Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping: application in various diseases.
Lee JS et al.
European Journal of Human Genetics : Ejhg, 2021
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2021
International consensus recommendations on the diagnostic work-up for malformations of cortical development.
Oegema R et al.
Nature Reviews. Neurology, 2020
Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan.
Kobayashi K et al.
Journal of Human Genetics, 2017
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.
Kitamura Y et al.
Journal of Human Genetics, 2016
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea.
Lim BC et al.
Neuromuscular Disorders : Nmd, 2010