M. Seong

J. Yim, M. Seong, C. Yoo, 2013, The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease.

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

M. Seong, E. Kim, S. Shin, 2012, The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease.

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

J. Yim, M. Seong, C. Yoo, 2015, The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease.

In vitro activity of lopinavir/ritonavir and hydroxychloroquine against severe acute respiratory syndrome coronavirus 2 at concentrations achievable by usual doses

M. Seong, T. Kim, P. G. Choe, 2020, The Korean journal of internal medicine.

A cluster of tertiary transmissions of 2019 novel coronavirus (SARS-CoV-2) in the community from infectors with common cold symptoms

M. Seong, P. G. Choe, N. Kim, 2020, The Korean journal of internal medicine.

Predicted pathogenic missense mutation of PGRN found in a normal control

J. Yun, Han-Joon Kim, B. Jeon, 2010, Annals of neurology.

Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans

M. Seong, S. Park, K. Park, 2019, Molecular vision.

Strabismus in chronic progressive external ophthalmoplegia

J. Y. Kim, Sung Im Cho, M. Seong, 2020, Acta ophthalmologica.

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

Eun Jung Koh, M. Seong, S. Park, 2016, Journal of neurosurgery. Pediatrics.

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

J. Y. Kim, S. Y. Kim, Sung Im Cho, 2015, European journal of medical genetics.

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

C. Chung, Hae-Ryong Song, S. Y. Kim, 2011, American journal of medical genetics. Part A.

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

S. Paek, J. Y. Kim, S. Y. Kim, 2010, The Korean journal of laboratory medicine.

Increased Prevalence of Thalassemia in Young People in Korea: Impact of Increasing Immigration

Min Ju Kim, M. Seong, Seri Jeong, 2018, Annals of laboratory medicine.

Patients diagnosed with long QT syndrome after repair of congenital heart disease

Kyung Jin Ahn, M. Seong, S. Park, 2018, Pacing and clinical electrophysiology : PACE.

Importance of early diagnosis in LMNA‐related muscular dystrophy for cardiac surveillance

M. Seong, J. Chae, A. Cho, 2019, Muscle & nerve.

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

C. Ki, M. Seong, S. Park, 2017, Korean circulation journal.

Update of Guidelines for Laboratory Diagnosis of COVID-19 in Korea

S. Y. Kim, M. Seong, T. Kim, 2022, Annals of laboratory medicine.

Non-Homologous End Joining Repair Mechanism-Mediated Deletion of CHD7 Gene in a Patient with Typical CHARGE Syndrome

Seung Jun Lee, Sung Im Cho, M. Seong, 2014, Annals of laboratory medicine.

Self-Reported Exposure to Second-Hand Smoke and Positive Urinary Cotinine in Pregnant Nonsmokers

M. Seong, K. Park, H. Song, 2009, Yonsei medical journal.

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

K. Chu, Soon-Tae Lee, M. Seong, 2014, Autonomic Neuroscience.

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

Yong-Jin Kim, Seil Oh, M. Seong, 2017, Korean circulation journal.

Usefulness of a Rapid Real-time PCR Assay in Prenatal Screening for Group B Streptococcus Colonization

M. Seong, S. Park, E. Kim, 2012, Annals of laboratory medicine.

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

Seung Jun Lee, J. Y. Kim, S. Y. Kim, 2016, The Journal of molecular diagnostics : JMD.

Hereditary Fructose Intolerance Diagnosed in Adulthood

M. Seong, S. Park, J. Moon, 2020, Gut and liver.

Clinical staging and genetic profiling of Korean patients with primary lymphedema using targeted gene sequencing

M. Seong, S. Park, Jee-Soo Lee, 2022, Scientific Reports.

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases

M. Seong, S. Park, K. Park, 2019, Journal of Korean medical science.

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

Seung Jun Lee, M. Seong, S. Park, 2015, Annals of laboratory medicine.

Evaluation of a Fully Automated, Rapid Detection System for CYP2C19 and UGT1A1 Genotyping

Seung Jun Lee, Sung Im Cho, M. Seong, 2014 .

Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome

Kwang Yeon Kim, M. Seong, S. Park, 2020, BMC Pediatrics.

Leukemic stem cell phenotype is associated with mutational profile in acute myeloid leukemia

Junshik Hong, Sung Im Cho, M. Seong, 2019, The Korean journal of internal medicine.

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

Seung Jun Lee, Min Jin Kim, J. Y. Kim, 2016, Clinical chemistry and laboratory medicine.

The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure

Jiyeon Han, Murim Choi, M. Seong, 2022, Orphanet Journal of Rare Diseases.

A Case of Fungemia with Co-isolation of Candida parapsilosis and Trichosporon asahii Confirmed by MALDI-TOF MS and D2 rRNA Sequencing

Jong Do Seo, M. Seong, S. Park, 2019, Laboratory Medicine Online.

Fungemia with Co-isolation of Candida parapsilosis and Trichosporon asahii Confirmed by MALDI-TOF MS and D 2 rRNA Sequencing

Jong Do Seo, M. Seong, S. Park, 2019 .

Genetics of Aldosterone-Producing Adenoma in Korean Patients

Young Shin Song, M. Seong, A. Hong, 2016, PloS one.

Molecular genetic characteristics of X-linked retinoschisis in Koreans

J. Y. Kim, S. Y. Kim, M. Seong, 2009, Molecular vision.

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

M. Han, S. Y. Kim, M. Seong, 2020, Annals of laboratory medicine.

Recent progress in laboratory diagnosis of thalassemia and hemoglobinopathy: a study by the Korean Red Blood Cell Disorder Working Party of the Korean Society of Hematology

Sang Hyuk Park, Hee-Jin Kim, M. Seong, 2019, Blood research.

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

Jeong Eon Lee, J. Lee, Sung-Won Kim, 2015, Breast Cancer Research and Treatment.

Comparison of the analytical and clinical performances of Abbott RealTime High Risk HPV, Hybrid Capture 2, and DNA Chip assays in gynecology patients.

M. Seong, S. Park, E. Kim, 2013, Diagnostic microbiology and infectious disease.

Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader–Willi Syndrome and Angelman Syndrome

J. Y. Kim, Sung Im Cho, M. Seong, 2022, Annals of laboratory medicine.

SARS-CoV-2 shedding dynamics and transmission in immunosuppressed patients

Sung Im Cho, M. Seong, S. Park, 2022, Virulence.

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

Seung Jun Lee, Ji‐Hyun Lee, M. Seong, 2016, BMC Medical Genetics.

Evaluation of a Targeted Next-generation Sequencing Assay for BRCA Mutation Screening in Clinical Samples

Sung Im Cho, M. Seong, S. Park, 2021, Laboratory Medicine Online.

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

C. Ki, J. Choi, M. Seong, 2016, Infection & chemotherapy.

Immunohistochemical Staining to Identify Concomitant Systemic Mastocytosis in Acute Myeloid Leukemia with RUNX1::RUNX1T1

M. Seong, J. Lee, B. Kim, 2022, Annals of laboratory medicine.

FMS-like Tyrosine Kinase 3-Internal Tandem Duplication Allele Concentrations Should Be Determined in a Mutation-Type-Specific Manner.

Sung Im Cho, M. Seong, S. Park, 2021, Clinical chemistry.

Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities

M. Seong, S. Park, J. Chae, 2015, Brain and Development.

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

Sung Im Cho, M. Seong, S. Park, 2011, Annals of laboratory medicine.

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

J. Y. Kim, S. Y. Kim, Sung Im Cho, 2010, Blood cells, molecules & diseases.

Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome

Sung Im Cho, M. Seong, S. Park, 2021, Annals of laboratory medicine.

Large Deletion in KCNQ1 Identified in a Family with Jervell and Lange-Nielsen Syndrome

S. Y. Kim, M. Seong, S. Park, 2014, Annals of laboratory medicine.

Stereotypic neutralizing VH antibodies against SARS-CoV-2 spike protein receptor binding domain in patients with COVID-19 and healthy individuals

M. Seong, Junho Chung, P. G. Choe, 2021, Science Translational Medicine.

Evidence of Severe Acute Respiratory Syndrome Coronavirus 2 Reinfection After Recovery from Mild Coronavirus Disease 2019

Jae Hyeon Park, S. Y. Kim, Sung Im Cho, 2020, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Diagnosis and treatment of nail melanoma: a review of the clinicopathologic, dermoscopic, and genetic characteristics

M. Seong, A. Virós, B. Kim, 2022, Journal of the European Academy of Dermatology and Venereology : JEADV.

Rates of Coinfection Between SARS-CoV-2 and Other Respiratory Viruses in Korea

S. Y. Kim, M. Seong, Jee-Soo Lee, 2022, Annals of laboratory medicine.

Threshold of Quantitative Cytomegalovirus DNA PCR for Preemptive Treatment in Pediatric Hematopoietic Stem Cell Transplant Recipients

M. Seong, J. Choi, H. Kang, 2022, Journal of pediatric hematology/oncology.

Novel compound heterozygous ACO2 mutations in an infant with progressive encephalopathy: A newly identified neurometabolic syndrome

M. Seong, J. Chae, Ki Joong Kim, 2020, Brain and Development.

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

Sung Im Cho, M. Seong, S. Park, 2016, Clinical genetics.

Comparison of 3 Automated Immunoassays for Detection of Anti-Hepatitis A Virus Immunoglobulin M in a Tertiary Care Hospital

M. Seong, Hyewon Park, E. Song, 2013, Annals of laboratory medicine.

Report on the External Quality Assessment Scheme for Molecular Diagnostics in Korea (2017)

Sung Im Cho, M. Seong, S. Park, 2018, Journal of Laboratory Medicine and Quality Assurance.

Annual Report on the External Quality Assessment of Diagnostic Genetics in Korea (2015)

Sun-Hee Kim, Sung Im Cho, M. Seong, 2016 .

Annual Report on the External Quality Assessment Scheme for Diagnostic Genetics in Korea (2014)

Sun-Hee Kim, Sung Im Cho, M. Seong, 2015 .

Annual Report on the External Quality Assessment of Diagnostic Genetics in Korea (2013)

M. Seong, S. Park, Mi-Ae Jang, 2014 .

Epidemiologic Trends of Thalassemia, 2006–2018: A Nationwide Population-Based Study

M. Seong, S. Park, Kibum Jeon, 2022, Journal of clinical medicine.

Reclassification of BRCA1 and BRCA2 variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort

Jeong Eon Lee, D. Noh, J. Lee, 2018, Journal of Medical Genetics.

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

K. Moon, M. Seong, S. Park, 2017, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Novel COL2A1 Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type

R. Pauli, N. Sobreira, M. Seong, 2015, Human mutation.

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

P. Stankiewicz, J. Lupski, J. Scull, 2014, American journal of human genetics.

Intronic LINE-1 insertion in SLCO1B3 as a highly prevalent cause of rotor syndrome in East Asian population

M. Seong, Jee-Soo Lee, M. Kim, 2021, Journal of Human Genetics.

Mitochondrial DNA content is decreased in autosomal dominant optic atrophy

M. Seong, Jeong-Min Hwang, H. Ko, 2005, Neurology.

Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases

M. Seong, S. Park, J. Ko, 2022, Annals of laboratory medicine.

Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations

M. Seong, S. Park, G. Kang, 2019, Pediatric gastroenterology, hepatology & nutrition.

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

Seung Jun Lee, J. Y. Kim, Sung Im Cho, 2015, Journal of the Neurological Sciences.

MutationalspectrumoftheSPASTandATL1genesinKoreanpatientswith hereditary spastic paraplegia

M. Seong, J. Sung, Seong-Ho Kang, 2015 .

Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early‐onset Parkinson disease

M. Seong, H. Ko, B. Jeon, 2012, Clinical genetics.

Molecular characterization of Leber congenital amaurosis in Koreans

J. Y. Kim, M. Seong, S. Park, 2008, Molecular vision.

Clinical and Molecular Characteristics of PRKACA L206R Mutant Cortisol-Producing Adenomas in Korean Patients

M. Seong, Su-jin Kim, J. H. Kim, 2021, Endocrinology and metabolism.

A Case of Myosin-heavy-chain-9 (MYH9) Gene Mutation Confirmed May-Hegglin Anomaly: 11-year Follow-up

D. Kim, M. Seong, J. Shim, 2016 .

Replication‐Based Rearrangements Are a Common Mechanism for SNCA Duplication in Parkinson's Disease

J. Tainer, Han-Joon Kim, A. Bacolla, 2020, Movement disorders : official journal of the Movement Disorder Society.

TWO AUTHORS REPLY

M. Seong, Do-Hoon Lee, 2009 .

A multi-institutional study on the association between BRCA1/BRCA2 mutational status and triple-negative breast cancer in familial breast cancer patients

D. Noh, J. Lee, Sung-Won Kim, 2014, Breast Cancer Research and Treatment.

Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene

Sung Im Cho, M. Seong, S. Park, 2022, Orphanet Journal of Rare Diseases.

Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II

M. Seong, J. Ko, H. Kim, 2022, Annals of laboratory medicine.

Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations

Chang Ho Shin, M. Seong, S. Park, 2020, Orphanet Journal of Rare Diseases.

ITDetect: a method to detect internal tandem duplication of FMS-like tyrosine kinase (FLT3) from next-generation sequencing data with high sensitivity and clinical application

Sung Im Cho, M. Seong, Sung-Soo Yoon, 2023, BMC Bioinformatics.

Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants

Namshin Kim, M. Seong, S. Park, 2015, Genomics & informatics.

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

M. Seong, Hyun-Jai Cho, B. Kim, 2019, Korean circulation journal.

Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome

Hyun-Young Kim, Sung-Eun Jung, S. Lee, 2018, Annals of laboratory medicine.

A Case Report of a Male Patient With Hb Hammersmith [β42(CD1)Phe→Ser, TTT>TCT]

Sung Im Cho, M. Seong, S. Park, 2012, Hemoglobin.

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

J. Y. Kim, M. Seong, S. Park, 2014, The Journal of molecular diagnostics : JMD.

Molecular basis and diagnosis of thalassemia

Sung Im Cho, M. Seong, S. Park, 2021, Blood research.

The Korean undiagnosed diseases program: lessons from a one-year pilot project

Murim Choi, M. Seong, S. Park, 2019, Orphanet Journal of Rare Diseases.

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

M. Seong, S. Park, Seunghyo Kim, 2017, Annals of laboratory medicine.

Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy

M. Seong, Ji Yeon Han, J. Chae, 2022, Annals of Child Neurology.

The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism

M. Seong, S. Park, J. Ko, 2022, Annals of laboratory medicine.

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

Seung Jun Lee, M. Seong, S. Park, 2015, Italian Journal of Pediatrics.

Prenatal molecular diagnosis and carrier detection of Duchenne muscular dystrophy in Korea

Sung Im Cho, M. Seong, S. Park, 2020, Journal of Genetic Medicine.

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

Seung Jun Lee, Sung Im Cho, M. Seong, 2017, Muscle & nerve.

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

M. Seong, P. G. Choe, N. Kim, 2020, Journal of Korean medical science.

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

Taek Soo Kim, Ki Ho Hong, Jaehyeon Lee, 2020, Annals of laboratory medicine.

Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?

M. Seong, J. Ko, J. Chae, 2022, European journal of medical genetics.

Guidelines for the Laboratory Diagnosis of Monkeypox in Korea

M. Seong, T. Kim, H. Sung, 2022, Annals of laboratory medicine.

Detection of very large off-ladder alleles at the PentaE locus in a 15 locus autosomal STR database of 199 Korean individuals.

M. Seong, S. Park, E. Ra, 2012, Forensic science international. Genetics.

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

M. Seong, S. Eun, E. Kim, 2015, Korean journal of pediatrics.

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

Sung Im Cho, M. Seong, S. Park, 2020, European Journal of Human Genetics.

Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea

M. Seong, S. Park, J. H. Lee, 2020, Yonsei medical journal.

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

J. H. Kim, M. Seong, S. Park, 2015, Graefe's Archive for Clinical and Experimental Ophthalmology.

Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma.

Sung Im Cho, M. Seong, S. Park, 2020, Endocrinology and metabolism.

A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma

Y. J. Chai, M. Seong, S. Park, 2018, Case reports in endocrinology.

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)

S. Oh, H. Kim, S. Moon, 2013, Clinical and experimental reproductive medicine.

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

M. Seong, E. Roh, S. Joo, 2012, Human Immunology.

Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel.

Kwang Yeon Kim, M. Seong, S. Park, 2020, European journal of medical genetics.

Evaluation of the new Abbott Real-Time EBV assay: fully automated quantification of EBV in whole blood by targeting BLLF1.

J. Y. Kim, Sung Im Cho, M. Seong, 2019, Diagnostic microbiology and infectious disease.

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

M. Seong, S. Kong, J. Moon, 2008, American journal of epidemiology.

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

M. Seong, B. Nam, S. Kong, 2009, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

A Novel Missense PRKAR1A Variant Causes Carney Complex

M. Seong, S. Kim, J. H. Kim, 2022, Endocrinology and metabolism.

Plasma vs. serum in circulating tumor DNA measurement: characterization by DNA fragment sizing and digital droplet polymerase chain reaction

M. Seong, Jee-Soo Lee, H. Kim, 2019, Clinical chemistry and laboratory medicine.

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

Y. Song, M. Seong, S. Park, 2015, Obstetrics & gynecology science.

Disentangling of Malignancy from Benign Pheochromocytomas/Paragangliomas

M. Seong, Su-jin Kim, A. Hong, 2016, PloS one.

A Case of Familial Stickler Syndrome in a Newborn with COL2A1 Gene Mutation

M. Seong, S. Park, M. Choi, 2014 .

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

M. Seong, Joo-Youn Cho, K. Yu, 2017, Antimicrobial Agents and Chemotherapy.

Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma

M. Seong, S. Park, S. Kim, 2020, Journal of Medical Genetics.

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

M. Seong, S. Park, Inho Kim, 2016, PloS one.

A phase II, multicenter, two cohort study of 160 mg osimertinib in EGFR T790M-positive non-small cell lung cancer patients with brain metastases or leptomeningeal disease who progressed on prior EGFR TKI therapy.

M. Ahn, E. Cho, B. Cho, 2020, Annals of oncology : official journal of the European Society for Medical Oncology.

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

Yeon Jin Cho, M. Seong, June-Dong Park, 2018, Journal of Korean medical science.

Clinical application of the Panbio™ COVID-19 Ag rapid test device and SSf-COVID19 kit for the detection of SARS-CoV-2 infection

M. Seong, P. G. Choe, Jee-Soo Lee, 2022, BMC Research Notes.

Monochorionic dizygotic twins with discordant sex and confined blood chimerism

S. Oh, M. Seong, S. Park, 2014, European Journal of Pediatrics.

No association between POU4F1, POU4F2, ISL1 polymorphisms and normal-tension glaucoma

Dong Myung Kim, J. Y. Kim, Sohee Oh, 2020, Ophthalmic genetics.

Mutations in TMEM43 cause autosomal dominant auditory neuropathy spectrum disorder via interaction with connexin-mediated passive conductance channels

W. Park, Eunyoung Yi, S. Blanton, 2020, bioRxiv.

Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene

Hyun Beom Song, M. Seong, J. Ko, 2021, Experimental dermatology.

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

Su-Yoen Park, Yoon-Ho Hong, Sung Im Cho, 2012, neurogenetics.

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

J. Y. Kim, Sung Im Cho, M. Seong, 2009, Genetic testing and molecular biomarkers.

Reference intervals for circulating angiogenic cytokines

M. Seong, H. Eom, W. Park, 2008, Clinical chemistry and laboratory medicine.

NFATc1+CD31+CD45- circulating multipotent stem cells derived from human endocardium and their therapeutic potential.

Seil Oh, Ju-Young Kim, M. Seong, 2019, Biomaterials.

Urine Cotinine and Environmental Tobacco Exposure in Korean Adolescents.

M. Seong, S. Hong, B. Kim, 2009 .

The First Korean Case of Lysinuric Protein Intolerance: Presented with Short Stature and Increased Somnolence

M. Seong, S. Park, J. Ko, 2012, Journal of Korean medical science.

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

Seung Jun Lee, Sung Im Cho, M. Seong, 2015, Investigative ophthalmology & visual science.

Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis

M. Seong, S. Park, J. Chae, 2014, Pediatrics international : official journal of the Japan Pediatric Society.

Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient

M. Seong, S. Park, S. Woo, 2020, Korean journal of ophthalmology : KJO.

Clinical Characteristics of Pediatric Thalassemia in Korea: A Single Institute Experience

Ji Won Lee, M. Seong, S. Park, 2013, Journal of Korean medical science.

Viral RNA Load in Mildly Symptomatic and Asymptomatic Children with COVID-19, Seoul, South Korea

Moon-Woo Seong, Taek Soo Kim, Sue Shin, 2020, Emerging infectious diseases.

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

Moon-Woo Seong, Taek Soo Kim, Ki Ho Hong, 2020, Annals of laboratory medicine.

SPG11 Mutation in Hereditary Spastic Paraplegia with Thin Corpus Callosum Diagnosed by Targeted Gene Panel Sequencing

S. Hong, M. Seong, Y. Min, 2020 .

Comprehensive mutational analysis of BRCA1/BRCA2 for Korean breast cancer patients: evidence of a founder mutation

D. Noh, M. Seong, W. Han, 2009, Clinical genetics.

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

M. Seong, S. Park, J. Sung, 2013, Experimental neurobiology.

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

Dong Myung Kim, M. Seong, S. Park, 2014, Investigative ophthalmology & visual science.

Clinical and genetic characteristics of Korean patients with IARS2-related disorders

Murim Choi, M. Seong, J. Chae, 2019 .

Stereotypic Neutralizing VH Clonotypes Against SARS-CoV-2 RBD in COVID-19 Patients and the Healthy Population

M. Seong, Junho Chung, P. G. Choe, 2020, bioRxiv.

Longitudinal proteomic profiling provides insights into host response and proteome dynamics in COVID‐19 progression

Jae Hyeon Park, Dohyun Han, Sung Im Cho, 2021, Proteomics.

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

M. Seong, S. Park, J. Chae, 2014, Epileptic disorders : international epilepsy journal with videotape.

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

Sung-Won Kim, Sung Im Cho, M. Seong, 2014, BMC Cancer.

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

Sung Im Cho, M. Seong, S. Park, 2016, Investigative ophthalmology & visual science.

A case of donor cell leukemia driven by a de novo NRAS mutation with complex karyotype

M. Seong, Sung-Soo Yoon, Yoon Hwan Chang, 2023, Annals of Hematology.

Low contribution of BRCA1/2 genomic rearrangement to high-risk breast cancer in the Korean population

W. Han, D. Noh, Sung-Won Kim, 2009, Familial Cancer.

Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis

M. Seong, S. Seo, J.Y. Kim, 2013, Clinical Genetics.

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

Seung Jun Lee, J. Y. Kim, Sung Im Cho, 2015, The Journal of molecular diagnostics : JMD.

Nationwide External Quality Assessment of SARS-CoV-2 Molecular Testing, South Korea

Yoon-Seok Chung, M. Han, M. Seong, 2020, Emerging infectious diseases.

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

J. Yim, M. Seong, Yeni Kim, 2015, The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease.

Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis.

M. Seong, S. Park, J. Ko, 2019, European journal of medical genetics.

Distinct mutational pattern of T-cell large granular lymphocyte leukemia combined with pure red cell aplasia: low mutational burden of STAT3

M. Seong, Yoon Hwan Chang, Jee-Soo Lee, 2023, Scientific reports.

Clinical Staging and Genetic Profiling of Korean Patients with Primary Lymphedema Using Whole-Exome Sequencing: Preliminary Results

M. Seong, S. Park, Jee-Soo Lee, 2022 .

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

M. Seong, J. Ko, S. Park, 2015, Clinical genetics.

Cryptic KMT2A/MLLT10 fusion detected by next-generation sequencing in a case of pediatric acute megakaryoblastic leukemia.

M. Seong, D. S. Lee, Yeseul Kim, 2023, Cancer genetics.

LCA5, a Rare Genetic Cause of Leber Congenital Amaurosis in Koreans

J. Y. Kim, M. Seong, S. Park, 2009, Ophthalmic genetics.

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

M. Seong, S. Park, D. S. Lee, 2012, Annals of laboratory medicine.

Lentigo maligna in a patient with xeroderma pigmentosum, variant type: A case report with dermoscopic findings and review of the literature

M. Seong, S. Park, J. Ko, 2020, Photodermatology, photoimmunology & photomedicine.

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

Y. Yun, M. Seong, S. Park, 2017, Clinical chemistry and laboratory medicine.

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

M. Seong, H. Im, Y. Paek, 2010, Tobacco Control.

Congenital Stationary Night Blindness due to Novel TRPM1 Gene Mutations in a Korean Patient

M. Seong, S. Park, Y. Lee, 2020, Korean journal of ophthalmology : KJO.

The Frequency and Distribution of Unexpected Red Cell Antibodies at National Cancer Center

Yoon Kyung Song, M. Seong, T. Kim, 2009 .

Establishment of an indocyanine green test using an automatic chemistry analyzer

Joong-Won Park, M. Seong, Sang-Hoon Song, 2006, Clinical chemistry and laboratory medicine.

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

Sung Im Cho, M. Seong, S. Park, 2016, Annals of laboratory medicine.

The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project

Sung Im Cho, M. Seong, S. Park, 2023, European Journal of Human Genetics.

Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome

M. Seong, J. Ko, Jee-Soo Lee, 2023, Annals of laboratory medicine.

Clinical and genetic spectrum of GSD type 6 in Korea

M. Seong, G. Kang, J. Moon, 2023, Orphanet Journal of Rare Diseases.

A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder

W. Park, Eunyoung Yi, S. Blanton, 2021, Proceedings of the National Academy of Sciences.

Association of Tandem Repeat Number Variabilities in Subunit S of the Type I Restriction-Modification System with Macrolide Resistance in Mycoplasma pneumoniae

M. Seong, E. Choi, K. Yun, 2022, Journal of clinical medicine.

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

Seil Oh, M. Seong, Hyung‐Kwan Kim, 2017, Korean circulation journal.

Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia

Jihoon G. Yoon, Sheehyun Kim, M. Seong, 2023, Journal of Human Genetics.

Consistent count region-copy number variation (CCR-CNV): an expandable and robust tool for clinical diagnosis of copy number variation at the exon level using next-generation sequencing data.

Sung Im Cho, M. Seong, S. Park, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy

M. Seong, J. Ko, J. Chae, 2021, Molecular genetics & genomic medicine.

Ophthalmoplegia diagnosis.

J. Y. Kim, M. Seong, Jeong-Min Hwang, 2009, Ophthalmology.

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

M. Seong, S. Park, S. Woo, 2016, Korean journal of ophthalmology : KJO.

SnackVar: An Open-Source Software for Sanger Sequencing Analysis Optimized for Clinical Use.

Young-Gon Kim, Man Jin Kim, Jee-Soo Lee, 2020, The Journal of molecular diagnostics : JMD.

Analysis of HTT CAG repeat expansion among healthy individuals and patients with chorea in Korea.

Han-Joon Kim, M. Seong, R. Kim, 2023, Parkinsonism & related disorders.

Poor visual prognosis of Asian patients with 3460 mitochondrial DNA mutation in Leber's hereditary optic neuropathy

M. Seong, H. Yang, Jeong-Min Hwang, 2024, Canadian Journal of Ophthalmology.

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

Sung Im Cho, M. Seong, S. Park, 2016, Annals of laboratory medicine.

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

J. Yim, M. Seong, C. Yoo, 2015, The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease.

Genetic and Clinical Profiling of Korean Patients with Birt–Hogg–Dubé Syndrome

Sung Im Cho, M. Seong, Jee-Soo Lee, 2024, Laboratory Medicine Online.

Menkes disease in Korea: ATP7A mutation and epilepsy phenotype

M. Seong, S. Park, J. Chae, 2015, Brain and Development.