Rare genetic disorder , Neurogenetic disorder , Hereditary disease , Genomic Medicine , Nervous system rare disease
Education / Career
| 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 | 2024-03 |
| Co-researcher | |||
| 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 | 2024-02-02 |
| Co-researcher | |||
| Article | The transcriptomic landscape of caudal cell mass in different developmental stages of the chick embryo | ||
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| Announcements | Chlids nervous system | Date of publication | 2022-11 |
| Co-researcher | |||
| Article | The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder | ||
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| Announcements | Frontiers in pediatrics | Date of publication | 2022-07-22 |
| Co-researcher | |||
| Article | Whole genomic approach in mutation discovery of infantile spasms patients | ||
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| Announcements | Frontiers in neurology | Date of publication | 2022-07-22 |
| Co-researcher | |||
| 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 |
| Co-researcher | |||
| Article | Neurotoxicity of phenylalanine on human iPSC-derived cerebral organoids | ||
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| Announcements | Molecular genetics and metabolism | Date of publication | 2022-06 |
| Co-researcher | |||
| Article | Short-term clinical outcomes of onasemnogene abeparvovec treatment for spinal muscular atrophy | ||
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| Announcements | Brain & development | Date of publication | 2022-04 |
| Co-researcher | |||
| Article | TNNT1 myopathy with novel compound heterozygous mutations | ||
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| Announcements | Neuromuscular disorders | Date of publication | 2022-02 |
| Co-researcher | |||
| 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 |
| Co-researcher | |||
| 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 |
| Co-researcher | |||
| 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 |
| Co-researcher | |||
| 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 |
| Co-researcher | |||
| 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 |
| Co-researcher | |||
| 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 |
| Co-researcher | |||
| 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 |
| Co-researcher | |||
| 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 |
| Co-researcher | |||
| 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 |
| Co-researcher | |||
| 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 |
| Co-researcher | |||
| 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 |
| Co-researcher | |||
| 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 |
| Co-researcher | |||