金秀姸
Department
Department of Genomic Medicine
Specialty
网上预约
mitochondrial disease
,
neurofibromatosis
,
movement disorder
,
genetic rare disease
,
undiagnosed rare disease
Education / Career
| Article | Expanding the Clinical and Genetic Spectrum of Caveolinopathy in Korea | ||
|---|---|---|---|
| Announcements | Ann Child Neurol | Date of publication | 2022-3 |
| Co-researcher | |||
| Article | Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuomuscular diseases | ||
|---|---|---|---|
| Announcements | J Med Genet | Date of publication | 2022-11 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35387801/ | ||
| Article | The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure | ||
|---|---|---|---|
| Announcements | Orphanet J Rare Dis | Date of publication | 2022-10 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/36209187/ | ||
| Article | Fatal systemic disorder caused by biallelic variants in FARSA | ||
|---|---|---|---|
| Announcements | Orphanet J Rare Dis | Date of publication | 2022-08 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35918773/ | ||
| Article | The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder | ||
|---|---|---|---|
| Announcements | Front Pediatr | Date of publication | 2022-07 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35935366/ | ||
| Article | Short-term clinical outcomes of onasemnogene abeparvovec treatment for spinal muscular atrophy | ||
|---|---|---|---|
| Announcements | Brain Dev | Date of publication | 2022-04 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/35033405/ | ||
| Article | Biallelic POLR3A variants cause Widemann-Rautenstrauch syndrome with atypical brain involvement: a case report | ||
|---|---|---|---|
| Announcements | Clin Exp Pediatr | Date of publication | 2022 Dec 30 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/36596744/ | ||
| Article | infant with early onset bilateral facil and bulbar weakness: successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants | ||
|---|---|---|---|
| Announcements | Neuromuscul Disord | Date of publication | 2021-11 |
| Co-researcher | |||
| Article | Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders | ||
|---|---|---|---|
| Announcements | Brain Dev | Date of publication | 2021-10 |
| Co-researcher | |||
| Article | Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome | ||
|---|---|---|---|
| Announcements | Mol Genet Genomic Med | Date of publication | 2021-10 |
| Co-researcher | |||
| Article | Clinical Application of Sequential Epigenetic Analysis for Diagnosis of Silver-Russell Syndrome | ||
|---|---|---|---|
| Announcements | Ann Lab Med | Date of publication | 2021-07 |
| Co-researcher | |||
| Article | De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features | ||
|---|---|---|---|
| Announcements | J Med Genet | Date of publication | 2021-03 |
| Co-researcher | |||
| Article | A case of CHOPS syndrome accompanied with moyamoya disease and systemic vasculopathy | ||
|---|---|---|---|
| Announcements | Brain Dev | Date of publication | 2021-03 |
| Co-researcher | |||
| Article | Application of whole-exome sequencing following epilepsy gene panel testing | ||
|---|---|---|---|
| Announcements | Clin Genet | Date of publication | 2021-03 |
| Co-researcher | |||
| Article | Sphpprintzen-goldberg syndrome with a novel missense mutation of SKI in a 6-month-old boy | ||
|---|---|---|---|
| Announcements | Journal of Genetic Medicine | Date of publication | 2020-07 |
| Co-researcher | |||
| Article | Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies | ||
|---|---|---|---|
| Announcements | Seizure | Date of publication | 2019-10 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/31401500/ | ||
| Article | The Korean undiagnosed disease program: lessons from a one-year pilot project | ||
|---|---|---|---|
| Announcements | Orphanet Journal of Rare Disease | Date of publication | 2019-03 |
| Co-researcher | |||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/30894207/ | ||
| Article | Clinical experience with Perampanel in intractable focal epilepsy over 12 months of follow-up | ||
|---|---|---|---|
| Announcements | journal of Epilepsy Research | Date of publication | 2018-12 |
| Co-researcher | |||
| Article | Paroxysmal dyskinesia in children: from genes to the clinic | ||
|---|---|---|---|
| Announcements | Journal of clinical Neurology | Date of publication | 2018-10 |
| Co-researcher | |||
| Article | A 3-month-old boy with progressive weakness | ||
|---|---|---|---|
| Announcements | Brain pathology | Date of publication | 2018-09 |
| Co-researcher | |||
| Article | Collagen VI-related myopathy: Expanding the clinical and genetic spectrum | ||
|---|---|---|---|
| Announcements | Muscle Nerve | Date of publication | 2018-09 |
| Co-researcher | |||
| Article | Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations | ||
|---|---|---|---|
| Announcements | American Journal of Medical Genetics Part A | Date of publication | 2016-11 |
| Co-researcher | |||
| Article | Screening autoimmune anti-neuronal antibodies in pediatric patients with suspected autoimmune encephalitis | ||
|---|---|---|---|
| Announcements | journal of Epilepsy Research | Date of publication | 2014-12 |
| Co-researcher | |||