Department of Genomic Medicine
Pediatric Neurology
Neurogenetic disorder
,
Hereditary disease
,
Genomic Medicine
,
Nervous system rare disease
,
Rare genetic disorder
Nervous system rare disease
,
Neurogenetic disorder
,
genetic epilepsy
,
Epilepsy
,
Pediatric neurological disease
Education / Career
| Article | Trio-Based Whole-Genome Sequencing for Critically Ill Pediatric Patients in Korea | ||
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| Announcements | Journal of Child Neurology | Date of publication | 2025-06 |
| Article | Exploring gene-phenotype relationships in GRIN-related neurodevelopmental disorders | ||
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| Announcements | npj Genomic Medicine | Date of publication | 2025-05 |
| Article | Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing | ||
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| Announcements | BMC Medical Genomics | Date of publication | 2025-03 |
| Article | Broadening the scope of multigene panel analysis for adult epilepsy patients. | ||
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| Announcements | Epilepsia open | Date of publication | 2024-8 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/38946282/ | ||
| Article | De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder. | ||
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| Announcements | The American Journal of Human Genetics | Date of publication | 2024-8 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/39047730/ | ||
| Article | Recurrent fever of unknown origin and unexplained bacteremia in a patient with a novel 4.5 Mb microdeletion in Xp11.23-p11.22. | ||
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| Announcements | Scientific Reports | Date of publication | 2024-8 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/39090138/ | ||
| Article | Identification of a novel IQCE variant in a Korean patient with nonsyndromic postaxial polydactyly. | ||
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| Announcements | Clinical Dysmorphology | Date of publication | 2024-7 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/38818822/ | ||
| Article | Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study. | ||
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| Announcements | Neurology-Genetics | Date of publication | 2024-6 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/38779172/ | ||
| Article | Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing. | ||
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| Announcements | European Journal of Human Genetics | Date of publication | 2024-5 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/38308084/ | ||
| Article | B-Cell-Mediated Immunity Predicts Survival of Patients With Estrogen Receptor-Positive Breast Cancer. | ||
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| Announcements | JCO Precision Oncology | Date of publication | 2024-3 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/38452311/ | ||
| Article | Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases. | ||
|---|---|---|---|
| Announcements | npj Genomic Medicine | Date of publication | 2024-1 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/39609445/ | ||
| Article | The first Korean case of VEXAS syndrome caused by a UBA1 somatic variant | ||
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| Announcements | Annals of laboratory medicine | Date of publication | 2023-0 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/36281520/ | ||
| Article | De Novo SPTAN1 Lys2083del Variant in a Korean Patient with Pure Cerebellar Ataxia | ||
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| Announcements | Movement Disorders | Date of publication | 2023-0 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/36408834/ | ||
| Article | Epilepsy phenotype and gene ontology analysis of the 129 genes in a large neurodevelopmental disorders cohort | ||
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| Announcements | Frontiers in Neurology | Date of publication | 2023-0 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/37645600/ | ||
| Article | Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean patients with primary ciliary dyskinesia | ||
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| Announcements | Journal of Human Genetics | Date of publication | 2023-0 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/36747106/ | ||
| Article | Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases | ||
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| Announcements | Frontiers in Genetics | Date of publication | 2022-9 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/36212160/ | ||
| Article | The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder | ||
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| Announcements | FRONTIERS IN PEDIATRICS | Date of publication | 2022-7 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35935366/ | ||
| Article | Whole genomic approach in mutation discovery of infantile spasms patients | ||
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| Announcements | FRONTIERS IN NEUROLOGY | Date of publication | 2022-7 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35937050/ | ||
| Article | Neurotoxicity of phenylalanine on human iPSC-derived cerebral organoids | ||
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| Announcements | MOLECULAR GENETICS AND METABOLISM | Date of publication | 2022-6 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35562278/ | ||
| Article | Short-term clinical outcomes of onasemnogene abeparvovec treatment for spinal muscular atrophy | ||
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| Announcements | BRAIN & DEVELOPMENT | Date of publication | 2022-4 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35033405/ | ||
| Article | TNNT1 myopathy with novel compound heterozygous mutations | ||
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| Announcements | NEUROMUSCULAR DISORDERS | Date of publication | 2022-2 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35165004/ | ||
| Article | The transcriptomic landscape of caudal cell mass in different developmental stages of the chick embryo | ||
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| Announcements | CHILDS NERVOUS SYSTEM | Date of publication | 2022-1 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/36181521/ | ||
| Article | Low-dose mitotane-induced neurological and endo-crinological complication in a 5-year-old girl with adrenocortical carcinoma | ||
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| Announcements | ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | Date of publication | 2022-1 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/34670067/ | ||
| Article | Expanding the Clinical and Genetic Spectrum of Caveolinopathy in Korea | ||
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| Announcements | Annals of child neurology | Date of publication | 2022-06-23 |
| Article | The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure | ||
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| Announcements | ORPHANET JOURNAL OF RARE DISEASES | Date of publication | 2022-0 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/36209187/ | ||
| Article | Extended phenotypes of PIEZO1-related lymphatic dysplasia caused by two novel compound heterozygous variants | ||
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| Announcements | European Journal of Medical Genetics | Date of publication | 2021-10-01 |
| Article | Transcriptome analyses of chronic traumatic encephalopathy show alterations in protein phosphatase expression associated with tauopathy | ||
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| Announcements | Experimental and molecular medicine | Date of publication | 2017-05-19 |
| Article | Comprehensive analysis of the transcriptional and mutational landscape of follicular and papillary thyroid cancers | ||
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| Announcements | PloS genetics | Date of publication | 2016-08-05 |
| Article | Genomic diagnosis by whole genome sequencing in a Korean family with atypical progeroid syndrome | ||
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| Announcements | Journal of Dermatology | Date of publication | 2015-12 |
| Article | Genetic alterations of JAK/STAT cascade and histone modification in extranodal NK/T-cell lymphoma nasal type | ||
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| Announcements | Oncotarget | Date of publication | 2015-07-10 |
| Article | Targeted resequencing of candidate genes reveals novel variants associated with severe Behcet’s uveitis | ||
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| Announcements | Experimental and molecular medicine | Date of publication | 2013-10 |
| Article | Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan using next-generation sequencing technology | ||
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| Announcements | Neuromuscular disorders | Date of publication | 2013-03-01 |
| Article | Exomic sequencing of immune-related genes reveals novel candidate variants associated with alopecia universalis | ||
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| Announcements | PloS one | Date of publication | 2013-01-11 |
| Article | A family-based association study after genome-wide linkage analysis identified two genetic loci for renal function in a Mongolian population | ||
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| Announcements | Kidney international | Date of publication | 2012-12-19 |
| Article | Comprehensive genomic analyses associate UGT8 variants with musical ability in a Mongolian population | ||
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| Announcements | Journal of medical genetics | Date of publication | 2012-11-01 |
| Article | Copy Number Variation of Age-Related Macular Degeneration Relevant Genes in the Korean Population | ||
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| Announcements | PloS one | Date of publication | 2012-02-15 |
| Article | Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform | ||
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| Announcements | Journal of medical genetics | Date of publication | 2011-10-03 |