List of works - Moon-Woo Seong

A Case Report of Fanconi Anemia Diagnosed by Genetic Testing Followed by Prenatal Diagnosis ⬇️

scientific article published on August 13, 2012

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 locally advanced breast cancer complicated by pulmonary tumor thrombotic microangiopathy.

scientific article published on 31 December 2012

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

scientific article published on 8 May 2015

A case report of a male patient with Hb Hammersmith [β42(CD1)Phe→Ser, TTT>TCT].

scientific article published on 4 January 2012

A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients

scientific article

A novel double mutation in cis in MFN2 causes Charcot–Marie–Tooth neuropathy type 2A ⬇️

scientific article published on April 20, 2012

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

scientific article published on 2 May 2013

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

scientific article published on 22 October 2014

Accuracy of the Xpert® MTB/RIF assay for the diagnosis of extra-pulmonary tuberculosis in South Korea

scholarly article by Y W Kim et al published January 2015 in International Journal of Tuberculosis and Lung Disease

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

scientific article

Analytical and Clinical Validation of Six Commercial Middle East Respiratory Syndrome Coronavirus RNA Detection Kits Based on Real-Time Reverse-Transcription PCR.

scientific article published on September 2016

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

scientific article published on 05 February 2016

Bietti Crystalline Retinopathy Confirmed by Mutation of CYP4V2 Gene in a Korean Patient

scientific article published on 21 January 2016

Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy.

scientific article published on 21 May 2015

COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss.

scientific article published on 20 January 2017

COVID-19 Molecular Testing in Korea: Practical Essentials and Answers From Experts Based on Experiences of Emergency Use Authorization Assays

scientific article published on 01 November 2020

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

scientific article

Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene

scientific article published on 24 December 2014

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

scientific article

Chimerism monitoring after allogeneic hematopoietic stem cell transplantation using quantitative real-time PCR of biallelic insertion/deletion polymorphisms.

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 applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.

scientific article

Clinical characteristics of pediatric thalassemia in Korea: a single institute experience

scientific article published on 31 October 2013

Comparative Evaluation of Three Homogenization Methods for Isolating Middle East Respiratory Syndrome Coronavirus Nucleic Acids From Sputum Samples for Real-Time Reverse Transcription PCR

scientific article published on September 2016

Comparison of the MicroScan, VITEK 2, and Crystal GP with 16S rRNA sequencing and MicroSeq 500 v2.0 analysis for coagulase-negative Staphylococci

scientific article

Compassionate use of hzVSF-v13 in two patients with severe COVID-19

scientific article published on 26 May 2020

Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center

scientific article published on 4 September 2016

Detection of HLA-DRB1 microchimerism using nested polymerase chain reaction and single-strand conformation polymorphism analysis.

scientific article published on 28 December 2011

Diagnostic accuracy of Xpert® MTB/RIF on bronchoscopy specimens in patients with suspected pulmonary tuberculosis.

scientific article published on 23 April 2013

Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity.

scientific article published on 24 October 2014

Disentangling of Malignancy from Benign Pheochromocytomas/Paragangliomas

scientific article

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

scientific article published on 13 March 2017

Effect of active smoking on asthma symptoms, pulmonary function, and BHR in adolescents.

scientific article

Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.

scientific article

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

scientific article published on 09 September 2019

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

scientific article published on 01 March 2021

Establishment of an indocyanine green test using an automatic chemistry analyzer.

scientific article published in January 2006

Evaluation of Xpert(®) MTB/RIF assay: diagnosis and treatment outcomes in rifampicin-resistant tuberculosis.

scientific article published in October 2015

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

Fabry Disease that Phenocopies Hypertrophic Cardiomyopathy: a thorough Genetic 'Detective' Identifies the 'Rogue' Hidden in the Gene

article

Frequency and clinical implications of the isolation of rare nontuberculous mycobacteria

scientific article

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.

scientific article

Genetics of Aldosterone-Producing Adenoma in Korean Patients

scientific article

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

Genotyping Influenza Virus by Next-Generation Deep Sequencing in Clinical Specimens.

scientific article

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

scientific article published on 15 November 2013

Guidelines for Laboratory Diagnosis of Coronavirus Disease 2019 (COVID-19) in Korea

scientific article published on 31 March 2020

Guidelines for the Laboratory Diagnosis of Middle East Respiratory Syndrome Coronavirus in Korea

scientific article

Hair nicotine levels in non-smoking pregnant women whose spouses smoke outside of the home.

scientific article published on 27 May 2010

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

scientific article published on 20 January 2017

Helicobacter pylori Seropositivity Is Associated with Gastric Cancer Regardless of Tumor Subtype in Korea

scientific article

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

Hereditary non-polyposis colorectal cancer/Lynch syndrome in Korean patients with endometrial cancer

scientific article published on 21 October 2010

Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.

scientific article published on 21 February 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

Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.

scientific article published on 7 August 2014

Identification of two novel NPM1 mutations in patients with acute myeloid leukemia

scientific article published on 17 December 2012

Immunohistochemical Staining to Identify Concomitant Systemic Mastocytosis in Acute Myeloid Leukemia with

scholarly article

Korean Society for Laboratory Medicine Practice Guidelines for the Molecular Diagnosis of Middle East Respiratory Syndrome During an Outbreak in Korea in 2015

scientific article

Large Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR).

scientific article published on December 2016

Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome.

scientific article published on 21 August 2014

Low initial human papilloma viral load implicates worse prognosis in patients with uterine cervical cancer treated with radiotherapy.

scientific article published on 21 September 2009

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 variant discovery in normal-tension glaucoma patients by next-generation sequencing

scientific article published on 24 February 2014

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 the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations

scientific article published on 01 April 2010

Molecular identification of the novel Gγ-β hybrid hemoglobin: Hb Gγ-β Ulsan (Gγ through 13; β from 19).

scientific article

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

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

scientific article published in December 2014

Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.

scientific article

Neonatal hair nicotine levels and fetal exposure to paternal smoking at home.

scientific article published on 18 September 2008

Neonatal invasive Streptococcus gallolyticus subsp. pasteurianus infection with delayed central nervous system complications

scientific article

Non-homologous end joining repair mechanism-mediated deletion of CHD7 gene in a patient with typical CHARGE syndrome

scientific article

Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping: application in various diseases

scientific article published on 24 November 2020

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

Pediatric Case Report on an Interstitial Lung Disease with a Novel Mutation of SFTPC Successfully Treated with Lung Transplantation.

scientific article

Performance of two commercially available BCR-ABL1 quantification assays that use an international reporting scale.

scientific article

Pharmacokinetics and Tolerance of the Phage Endolysin-Based Candidate Drug SAL200 after a Single Intravenous Administration among Healthy Volunteers.

scientific article

Phase I clinical and pharmacokinetic/pharmacogenetic study of a triplet regimen of S-1/irinotecan/oxaliplatin in patients with metastatic colorectal or gastric cancer.

scientific article published on 28 August 2013

Phenotypic, immunologic, and clinical characteristics of patients with nontuberculous mycobacterial lung disease in Korea

scientific article

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

Pitfalls of Multiple Ligation-Dependent Probe Amplifications in Detecting DMD Exon Deletions or Duplications

scientific article

Predicting tissue HER2 status using serum HER2 levels in patients with metastatic breast cancer

scientific article published on 15 June 2006

Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.

scientific article published in December 2014

Reference intervals for circulating angiogenic cytokines.

scientific article published in January 2008

Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.

scientific article published on 30 September 2011

Self-reported exposure to second-hand smoke and positive urinary cotinine in pregnant nonsmokers

scientific article published on 23 June 2009

Simultaneous and sensitive measurement of nicotine and cotinine in small amounts of human hair using liquid chromatography/tandem mass spectrometry

scientific article published on 01 January 2006

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

scientific article published on 01 March 2022

Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K)

scientific article published on 31 March 2013

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

scientific article

The First Study on Nucleotide-level Identification of Hb Koriyama in a Patient with Severe Hemolytic Anemia ⬇️

scientific article published on December 20, 2011

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

scientific article

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

scientific article

The comparison of two smoking biomarkers in various biological samples

scientific article published on 17 May 2007

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

scientific article

The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.

scientific article published on 12 April 2015

Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea

scientific article published on 01 January 2021

Usefulness of a rapid real-time PCR assay in prenatal screening for group B streptococcus colonization

scientific article published on 17 December 2012

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

scientific article published on 15 October 2016

Virus Isolation from the First Patient with SARS-CoV-2 in Korea

scientific article published on 24 February 2020

List of works by Moon-Woo Seong

A Case Report of Fanconi Anemia Diagnosed by Genetic Testing Followed by Prenatal Diagnosis ⬇️

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.

A case of locally advanced breast cancer complicated by pulmonary tumor thrombotic microangiopathy.

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

A case report of a male patient with Hb Hammersmith [β42(CD1)Phe→Ser, TTT>TCT].

A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients

A novel double mutation in cis in MFN2 causes Charcot–Marie–Tooth neuropathy type 2A ⬇️

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

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

Accuracy of the Xpert® MTB/RIF assay for the diagnosis of extra-pulmonary tuberculosis in South Korea

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

Analytical and Clinical Validation of Six Commercial Middle East Respiratory Syndrome Coronavirus RNA Detection Kits Based on Real-Time Reverse-Transcription PCR.

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

Bietti Crystalline Retinopathy Confirmed by Mutation of CYP4V2 Gene in a Korean Patient

Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy.

COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss.

COVID-19 Molecular Testing in Korea: Practical Essentials and Answers From Experts Based on Experiences of Emergency Use Authorization Assays

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

Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene

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

Chimerism monitoring after allogeneic hematopoietic stem cell transplantation using quantitative real-time PCR of biallelic insertion/deletion polymorphisms.

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

Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.

Clinical characteristics of pediatric thalassemia in Korea: a single institute experience

Comparative Evaluation of Three Homogenization Methods for Isolating Middle East Respiratory Syndrome Coronavirus Nucleic Acids From Sputum Samples for Real-Time Reverse Transcription PCR

Comparison of the MicroScan, VITEK 2, and Crystal GP with 16S rRNA sequencing and MicroSeq 500 v2.0 analysis for coagulase-negative Staphylococci

Compassionate use of hzVSF-v13 in two patients with severe COVID-19

Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center

Detection of HLA-DRB1 microchimerism using nested polymerase chain reaction and single-strand conformation polymorphism analysis.

Diagnostic accuracy of Xpert® MTB/RIF on bronchoscopy specimens in patients with suspected pulmonary tuberculosis.

Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity.

Disentangling of Malignancy from Benign Pheochromocytomas/Paragangliomas

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

Effect of active smoking on asthma symptoms, pulmonary function, and BHR in adolescents.

Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.

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

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

Establishment of an indocyanine green test using an automatic chemistry analyzer.

Evaluation of Xpert(®) MTB/RIF assay: diagnosis and treatment outcomes in rifampicin-resistant tuberculosis.

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.

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

Fabry Disease that Phenocopies Hypertrophic Cardiomyopathy: a thorough Genetic 'Detective' Identifies the 'Rogue' Hidden in the Gene

Frequency and clinical implications of the isolation of rare nontuberculous mycobacteria

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.

Genetics of Aldosterone-Producing Adenoma in Korean Patients

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

Genotyping Influenza Virus by Next-Generation Deep Sequencing in Clinical Specimens.

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

Guidelines for Laboratory Diagnosis of Coronavirus Disease 2019 (COVID-19) in Korea

Guidelines for the Laboratory Diagnosis of Middle East Respiratory Syndrome Coronavirus in Korea

Hair nicotine levels in non-smoking pregnant women whose spouses smoke outside of the home.

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

Helicobacter pylori Seropositivity Is Associated with Gastric Cancer Regardless of Tumor Subtype in Korea

Hereditary Fructose Intolerance Diagnosed in Adulthood

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

Hereditary non-polyposis colorectal cancer/Lynch syndrome in Korean patients with endometrial cancer

Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.

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

Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.

Identification of two novel NPM1 mutations in patients with acute myeloid leukemia

Immunohistochemical Staining to Identify Concomitant Systemic Mastocytosis in Acute Myeloid Leukemia with

Korean Society for Laboratory Medicine Practice Guidelines for the Molecular Diagnosis of Middle East Respiratory Syndrome During an Outbreak in Korea in 2015

Large Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR).

Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome.

Low initial human papilloma viral load implicates worse prognosis in patients with uterine cervical cancer treated with radiotherapy.

Menkes disease in Korea: ATP7A mutation and epilepsy phenotype

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

Mitochondrial DNA variant discovery in normal-tension glaucoma patients by next-generation sequencing

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

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

Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations

Molecular identification of the novel Gγ-β hybrid hemoglobin: Hb Gγ-β Ulsan (Gγ through 13; β from 19).

Monochorionic dizygotic twins with discordant sex and confined blood chimerism.

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

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

Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.

Neonatal hair nicotine levels and fetal exposure to paternal smoking at home.

Neonatal invasive Streptococcus gallolyticus subsp. pasteurianus infection with delayed central nervous system complications

Non-homologous end joining repair mechanism-mediated deletion of CHD7 gene in a patient with typical CHARGE syndrome