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List of works by Sung Wook Park

A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22.

scientific article published on November 2017

A case of near total aortic replacement in an adolescent with loeys-dietz syndrome ⬇️

scientific article published on April 26, 2012

A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing.

scientific article published on 8 May 2015

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

scientific article

A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.

scientific article

A novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection.

scientific article published on 2 May 2013

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases

scientific article published in April 2010

Absence of CHN1 in two patients with a bilateral absence of cranial nerves IV and VI.

scientific article published on 22 October 2014

Analysis of the Vaginal Microbiome by Next-Generation Sequencing and Evaluation of its Performance as a Clinical Diagnostic Tool in Vaginitis

scientific article

Antituberculosis medication as a possible epigenetic factor of Leber's hereditary optic neuropathy

scientific article published on 22 February 2010

Association between moyamoya syndrome and the RNF213 c.14576G>A variant in patients with neurofibromatosis Type 1.

scientific article published on 05 February 2016

Association of DRD3 and GRIN2B with impulse control and related behaviors in Parkinson's disease.

scientific article published in September 2009

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study ⬇️

scientific article published on 30 August 2011

Brain imaging studies in Leber's congenital amaurosis: new radiologic findings associated with the complex trait

scientific article

Cardiomyopathies with Mixed and Inapparent Morphological Features in Cardiac Troponin I3 Mutation

scientific article

Characteristics of hereditary nonpolyposis colorectal cancer patients with double primary cancers in endometrium and colorectum

scientific article

Childhood brugada syndrome in two korean families

scientific article

Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.

scientific article published on 6 August 2014

Clinical course of non-severe aplastic anemia in adults

scientific article

Comparison of Modified Multiple-locus Variable-number Tandem-repeat Fingerprinting with Pulsed-field Gel Electrophoresis for Typing Clinical Isolates of Staphylococcus aureus ⬇️

scientific article published on December 20, 2011

Comparison of retinal nerve fibre layers between 11778 and 14484 mutations in Leber's hereditary optic neuropathy

scientific article published on 27 February 2009

Congenital Analbuminemia in a Korean Male Diagnosed with Single Nucleotide Polymorphism in the ALB Gene: The First Case Reported in Korea

scientific article published on 01 July 2019

Differential genetic susceptibility in diphasic and peak-dose dyskinesias in Parkinson's disease

scientific article published on 13 October 2010

Diverse Phenotypic Expression of Cardiomyopathies in a Family with TNNI3 p.Arg145Trp Mutation.

scientific article published on 13 March 2017

Dopamine transporter density measured by [123I]beta-CIT single-photon emission computed tomography is normal in dopa-responsive dystonia

scientific article published in June 1998

Enteroviral meningitis without pleocytosis in children

scientific article

Erratum: Correction of Table: Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases

scientific article published on 09 September 2019

Esophageal Stricture Secondary to Candidiasis in a Child with Glycogen Storage Disease 1b.

scientific article published on 22 March 2016

Establishment of Pediatric Reference Intervals for Routine Laboratory Tests in Korean Population: A Retrospective Multicenter Analysis

scientific article published on 01 March 2021

Evaluation of a Real-Time Reverse Transcription-PCR (RT-PCR) Assay for Detection of Middle East Respiratory Syndrome Coronavirus (MERS-CoV) in Clinical Samples from an Outbreak in South Korea in 2015.

scientific article published on 31 May 2017

External Quality Assessment of MERS-CoV Molecular Diagnostics During the 2015 Korean Outbreak.

scientific article published on May 2016

Extrapyramidal signs are a common feature of spinocerebellar ataxia type 17.

scientific article

False Homozygosity Results in HLA Genotyping due to Loss of Chromosome 6 in a Patient with Acute Lymphoblastic Leukemia ⬇️

scientific article published on October 3, 2011

False homozygous deletions of SMN1 exon 7 using Dra I PCR-RFLP caused by a novel mutation in spinal muscular atrophy

scientific article published in August 2009

First Korean Case of Mycobacterium arupense tenosynovitis.

scientific article published on 19 June 2014

First case of Mycobacterium longobardum infection

scientific article published on 08 August 2013

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

scientific article

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.

scientific article

Genetic Polymorphisms in Autophagy-Associated Genes in Korean Children With Early-Onset Crohn Disease

scientific article published in May 2015

Genetic variant of HTR2A associates with risk of impulse control and repetitive behaviors in Parkinson's disease

scientific article published on 6 September 2011

Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma

scientific article

Germline mutations and genotype-phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea.

scientific article published on 15 November 2013

Hb variants in Korea: effect on HbA1c using five routine methods.

scientific article published on 20 January 2017

Hereditary Fructose Intolerance Diagnosed in Adulthood

scientific article published on 08 October 2020

Hereditary Spastic Paraplegia with a Novel SPAST Mutation Misdiagnosed with Subacute Combined Degeneration.

scientific article published on 27 June 2013

Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome

scientific article published on 22 June 2016

Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism

scientific article published in October 2007

Interleukin-10 receptor mutations in children with neonatal-onset Crohn's disease and intractable ulcerating enterocolitis.

scientific article published on October 2013

Investigation of the association between 677C>T and 1298A>C 5,10-methylenetetra- hydrofolate reductase gene polymorphisms and normal-tension glaucoma

article

Jervell and Lange-Nielsen syndrome: novel compound heterozygous mutations in the KCNQ1 in a Korean family.

scientific article published on 20 September 2010

LCA5, a rare genetic cause of leber congenital amaurosis in Koreans

scientific article published in March 2009

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

scientific article

Large-scale replication and heterogeneity in Parkinson disease genetic loci

scientific article

Leber's hereditary optic neuropathy mutations in ethambutol-induced optic neuropathy

scientific article published in January 2003

Long QT syndrome and dilated cardiomyopathy with SCN5A p.R1193Q polymorphism: cardioverter-defibrillator implantation at 27 months

scientific article

Long QT syndrome: a Korean single center study.

scientific article published on 25 September 2013

Menkes disease in Korea: ATP7A mutation and epilepsy phenotype

scientific article published on 29 May 2014

Microevolution of Outbreak-Associated Middle East Respiratory Syndrome Coronavirus, South Korea, 2015

scientific article published on February 2016

Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis

scientific article

Molecular Characterization of FZD4, LRP5, and TSPAN12 in Familial Exudative Vitreoretinopathy

scientific article published on August 2015

Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans.

scientific article published in December 2008

Molecular characterization of D- Korean persons: development of a diagnostic strategy

scientific article published in March 2005

Monochorionic dizygotic twins with discordant sex and confined blood chimerism.

scientific article published on 6 April 2014

MtDNA m.3472T>C could be classified as a primary mutation of Leber's hereditary optic neuropathy

scientific article published on 10 July 2017

Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease.

scientific article

Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy

scientific article published in December 2014

Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type

scientific article

Novel MT-ND5 gene mutation identified in Leber's hereditary optic neuropathy patient using mitochondrial genome sequencing

scientific article published on 24 January 2017

Novel mutation in the ATL1 with autosomal dominant hereditary spastic paraplegia presented as dysautonomia.

scientific article published on 09 June 2014

Ophthalmoplegia diagnosis.

scientific article

Parkin mutation and deep brain stimulation outcome.

scientific article published on 21 September 2013

Phenotype analysis in patients with early onset Parkinson's disease with and without parkin mutations

scientific article published on 29 May 2011

Pitfalls of ABO Genotyping Based on Targeted Single Nucleotide Variant Analysis Due to a Nondeletional O Allele Lacking c.261delG: First Report of ABO*O.09.01 in Korea

scientific article published on 01 November 2019

Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium

scientific article

Predicted pathogenic missense mutation of PGRN found in a normal control

scientific article published in March 2010

Prediction of rebound phenomenon after removal of hemiepiphyseal staples in patients with idiopathic genu valgum deformity

scientific article published in September 2016

Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants

scientific article published on 17 August 2013

Proteomic profiling of serum from patients with tuberculosis.

scientific article

QT Prolongation and Life Threatening Ventricular Tachycardia in a Patient Injected With Intravenous Meperidine (Demerol®) ⬇️

scientific article published on June 30, 2011

Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis

scientific article published in December 2014

Relative contribution of SCA2, SCA3 and SCA17 in Korean patients with parkinsonism and ataxia

scientific article published on 19 February 2011

SCA2 family presenting as typical Parkinson's disease: 34 year follow up.

scientific article published on 12 April 2017

SNCA variants and multiple system atrophy

scientific article

Screening for MAPT and PGRN mutations in Korean patients with PSP/CBS/FTD.

scientific article published on 19 February 2010

SnackNTM: An Open-Source Software for Sanger Sequencing-based Identification of Nontuberculous Mycobacterial Species

scientific article published on 01 March 2022

Spectrum of the mitochondrial DNA mutations of Leber's hereditary optic neuropathy in Koreans

scientific article published in March 2003

Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism

scientific article published in April 2009

Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.

scientific article published on May 2002

Successful Pregnancy and Delivery with Intracytoplasmic Sperm Injection in HIV-Serodiscordant Couple: the First Case in Korea

scientific article published on 29 June 2020

Sudden Cardiac Arrest during Anesthesia in a 30-Month-Old Boy with Syndactyly: A Case of Genetically Proven Timothy Syndrome ⬇️

scientific article published on May 2, 2013

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles

scientific article

The Impact of Methylenetetrahydrofolate Reductase C677T Polymorphism on Patients Undergoing Allogeneic Hematopoietic Stem Cell Transplantation with Methotrexate Prophylaxis

scientific article

The LRRK2 G2385R variant is a risk factor for sporadic Parkinson's disease in the Korean population

scientific article published on 23 October 2009

The Relation Between Endothelial Nitric Oxide Synthase Polymorphisms and Normal Tension Glaucoma

scientific article published on 2 August 2017

The Xpert® MTB/RIF assay evaluation in South Korea, a country with an intermediate tuberculosis burden.

scientific article

The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP

scientific article

The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence.

scientific article

The wide clinical spectrum and nigrostriatal dopaminergic damage in spinocerebellar ataxia type 6.

scientific article published on May 2010

Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea

scientific article published on 01 January 2021

Two Parkinson's disease patients with alpha-synuclein gene duplication and rapid cognitive decline

scientific article published in May 2010

VSX1 gene and keratoconus: genetic analysis in Korean patients

scientific article published in July 2012

Viral RNA in Blood as Indicator of Severe Outcome in Middle East Respiratory Syndrome Coronavirus Infection

scientific article published on 15 October 2016

Wilson Disease Comorbid with Hereditary Sensory Autonomic Neuropathy Type IV and Gitelman Syndrome

scientific article published on 18 June 2019

[Detection of mycobacterium tuberculosis complex using real-time polymerase chain reaction].

scientific article

alpha-Synuclein gene duplication is present in sporadic Parkinson disease

scientific article

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