Moon-Woo Seong

Moon-Woo Seong

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Moon-Woo Seong

Moon-Woo Seong

Publications by authors named "Moon-Woo Seong"

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

J Korean Med Sci 2019 Sep 9;34(35):e245. Epub 2019 Sep 9.

Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea.

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http://dx.doi.org/10.3346/jkms.2019.34.e245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732256PMC
September 2019

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

Muscle Nerve 2019 Sep 9. Epub 2019 Sep 9.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1002/mus.26700DOI Listing
September 2019

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

Eur J Med Genet 2019 Aug 25;62(8):103681. Epub 2019 May 25.

Dept. of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.

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http://dx.doi.org/10.1016/j.ejmg.2019.103681DOI Listing
August 2019

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

Diagn Microbiol Infect Dis 2019 Jun 3;94(2):135-139. Epub 2019 Jan 3.

Biomedical Research Institute, Seoul National University Hospital, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.diagmicrobio.2018.12.015DOI Listing
June 2019

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.

J Korean Med Sci 2019 Jun 2;34(21):e161. Epub 2019 Jun 2.

Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea.

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http://dx.doi.org/10.3346/jkms.2019.34.e161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6543061PMC
June 2019

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

Pediatr Gastroenterol Hepatol Nutr 2019 Mar 27;22(2):201-206. Epub 2019 Feb 27.

Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.5223/pghn.2019.22.2.201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416387PMC
March 2019

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

J Med Genet 2018 12 10;55(12):794-802. Epub 2018 Nov 10.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2018-105565
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http://dx.doi.org/10.1136/jmedgenet-2018-105565DOI Listing
December 2018

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

Pacing Clin Electrophysiol 2018 11 9;41(11):1435-1440. Epub 2018 Oct 9.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.

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http://dx.doi.org/10.1111/pace.13512DOI Listing
November 2018

Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.

Brain Dev 2018 May 10;40(5):383-390. Epub 2018 Feb 10.

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, South Korea. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03877604183002
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http://dx.doi.org/10.1016/j.braindev.2018.01.009DOI Listing
May 2018

A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma.

Case Rep Endocrinol 2018 15;2018:8657914. Epub 2018 Apr 15.

Department of Laboratory Medicine, Seoul National University Hospital and College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Republic of Korea.

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http://dx.doi.org/10.1155/2018/8657914DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924991PMC
April 2018

Implication of species change of Nontuberculous Mycobacteria during or after treatment.

BMC Pulm Med 2017 Dec 20;17(1):213. Epub 2017 Dec 20.

Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Seoul National University College of Medicine, 101, Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.

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http://dx.doi.org/10.1186/s12890-017-0539-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5738815PMC
December 2017

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

J Neurol Sci 2017 11 30;382:166-167. Epub 2017 Sep 30.

Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2017.09.046DOI Listing
November 2017

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

J Neurol Sci 2017 09 10;380:174-176. Epub 2017 Jul 10.

Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2017.07.017DOI Listing
September 2017

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.

J Clin Microbiol 2017 08 31;55(8):2554-2555. Epub 2017 May 31.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea

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http://dx.doi.org/10.1128/JCM.00667-17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5527434PMC
August 2017

Disentangling of Malignancy from Benign Pheochromocytomas/Paragangliomas.

PLoS One 2016 16;11(12):e0168413. Epub 2016 Dec 16.

Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0168413PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5161476PMC
July 2017

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

Am J Kidney Dis 2017 Jul 20;70(1):139-144. Epub 2017 Jan 20.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea; Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea; Kidney Research Institute, Medical Research Center, Seoul National University Hospital, Seoul, Korea. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S02726386163070
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http://dx.doi.org/10.1053/j.ajkd.2016.10.040DOI Listing
July 2017

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

Korean Circ J 2017 Jul 22;47(4):540. Epub 2017 Jun 22.

Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.4070/kcj.2016.0445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537161PMC
July 2017

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

Korean Circ J 2017 May 25;47(3):413-417. Epub 2017 May 25.

Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.4070/kcj.2016.0302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5449537PMC
May 2017

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

J Neurol Sci 2017 04 24;375:301-303. Epub 2017 Jan 24.

Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2017.01.064DOI Listing
April 2017

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

Korean Circ J 2017 Mar 13;47(2):270-277. Epub 2017 Mar 13.

Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.4070/kcj.2016.0213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378035PMC
March 2017

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

Invest Ophthalmol Vis Sci 2016 12;57(15):6902-6908

Biomedical Research Institute, Seoul National University Hospital, Seoul, Korea.

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http://dx.doi.org/10.1167/iovs.16-20585DOI Listing
December 2016

Genetics of Aldosterone-Producing Adenoma in Korean Patients.

PLoS One 2016 25;11(1):e0147590. Epub 2016 Jan 25.

Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0147590PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4726589PMC
July 2016

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

J Neurosurg Pediatr 2016 Jun 5;17(6):717-22. Epub 2016 Feb 5.

Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine;

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http://dx.doi.org/10.3171/2015.10.PEDS15537DOI Listing
June 2016

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

J Cardiovasc Ultrasound 2016 Jun 22;24(2):153-7. Epub 2016 Jun 22.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.

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http://dx.doi.org/10.4250/jcu.2016.24.2.153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4925393PMC
June 2016

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

Ann Lab Med 2016 May;36(3):230-4

Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea.

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http://dx.doi.org/10.3343/alm.2016.36.3.230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773263PMC
May 2016

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

Ann Lab Med 2016 May;36(3):255-8

Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3343/alm.2016.36.3.255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773267PMC
May 2016

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

J Mol Diagn 2016 Mar 29;18(2):253-9. Epub 2015 Dec 29.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2015.11.002DOI Listing
March 2016

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

Korean J Ophthalmol 2016 Feb 21;30(1):81-3. Epub 2016 Jan 21.

Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea.

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http://dx.doi.org/10.3341/kjo.2016.30.1.81DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4742652PMC
February 2016

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

J Neurol Sci 2015 Oct 17;357(1-2):167-72. Epub 2015 Jul 17.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2015.07.024DOI Listing
October 2015

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

Invest Ophthalmol Vis Sci 2015 Aug;56(9):5143-51

Biomedical Research Institute, Seoul National University Hospital, Seoul, Korea.

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http://dx.doi.org/10.1167/iovs.14-15680DOI Listing
August 2015

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

Ann Lab Med 2015 Jul 21;35(4):458-62. Epub 2015 May 21.

Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea. ; Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.

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http://dx.doi.org/10.3343/alm.2015.35.4.458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4446587PMC
July 2015

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

Genomics Inform 2015 Jun 30;13(2):31-9. Epub 2015 Jun 30.

Department of Functional Genomics, Korea University of Science and Technology, Daejeon 305-806, Korea. ; Epigenomics Research Center, Genome Institute, Korea Research Institute of Bioscience and Biotechnology, Daejeon 305-806, Korea.

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http://dx.doi.org/10.5808/GI.2015.13.2.31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4500796PMC
June 2015

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

Breast Cancer Res Treat 2015 May 12;151(1):157-68. Epub 2015 Apr 12.

Department of Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, 82, Gumi-ro 173 Beon-gil, Bundang-gu, Seongnam-si, Gyeonggi-do, 463-707, Korea.

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http://dx.doi.org/10.1007/s10549-015-3377-4DOI Listing
May 2015

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

Brain Dev 2015 Apr 6;37(4):402-8. Epub 2014 Aug 6.

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2014.07.007DOI Listing
April 2015

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

Graefes Arch Clin Exp Ophthalmol 2015 Mar 22;253(3):491-2. Epub 2014 Oct 22.

Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.

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http://dx.doi.org/10.1007/s00417-014-2828-7DOI Listing
March 2015

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

Eur J Med Genet 2015 Mar 24;58(3):175-9. Epub 2014 Dec 24.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul, South Korea. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.12.011DOI Listing
March 2015

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

Obstet Gynecol Sci 2015 Mar 16;58(2):112-6. Epub 2015 Mar 16.

Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.5468/ogs.2015.58.2.112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4366863PMC
March 2015

Menkes disease in Korea: ATP7A mutation and epilepsy phenotype.

Brain Dev 2015 Feb 29;37(2):223-9. Epub 2014 May 29.

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, South Korea, Seoul National University College of Medicine, South Korea. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2014.04.012DOI Listing
February 2015

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

J Mol Diagn 2015 Jan 24;17(1):100-5. Epub 2014 Oct 24.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea; Biomedical Research Institute, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2014.09.003DOI Listing
January 2015

Frequency and clinical implications of the isolation of rare nontuberculous mycobacteria.

BMC Infect Dis 2015 Jan 9;15. Epub 2015 Jan 9.

Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Seoul National University College of Medicine, 101 Daehak-Ro, Jongno-Gu, Seoul, 110-744, Republic of Korea.

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http://dx.doi.org/10.1186/s12879-014-0741-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297383PMC
January 2015

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

Korean J Pediatr 2015 Jan 31;58(1):33-6. Epub 2015 Jan 31.

Department of Pediatrics, Korea University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3345/kjp.2015.58.1.33DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4342779PMC
January 2015

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

Epileptic Disord 2014 Dec;16(4):449-55

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital.

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http://dx.doi.org/10.1684/epd.2014.0712DOI Listing
December 2014

Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.

Pediatr Int 2014 Dec;56(6):e88-e91

Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, South Korea.

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http://dx.doi.org/10.1111/ped.12442DOI Listing
December 2014

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

J Mol Diagn 2014 Nov 23;16(6):679-88. Epub 2014 Aug 23.

Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea; Biomedical Research Institute, Seoul National University Hospital, Seoul, Republic of Korea.

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http://dx.doi.org/10.1016/j.jmoldx.2014.06.005DOI Listing
November 2014

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

Auton Neurosci 2014 Oct 9;185:141-3. Epub 2014 Jun 9.

Department of Neurology, Laboratory for Neurotherapeutics, Comprehensive Epilepsy Center, Biomedical Research Institute, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15660702140008
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http://dx.doi.org/10.1016/j.autneu.2014.06.001DOI Listing
October 2014

Monochorionic dizygotic twins with discordant sex and confined blood chimerism.

Eur J Pediatr 2014 Sep 6;173(9):1249-52. Epub 2014 Apr 6.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 110-769, South Korea,

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http://dx.doi.org/10.1007/s00431-014-2312-8DOI Listing
September 2014

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

Ann Lab Med 2014 Sep 21;34(5):395-8. Epub 2014 Aug 21.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.

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http://dx.doi.org/10.3343/alm.2014.34.5.395DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4151011PMC
September 2014

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

Am J Hum Genet 2014 Aug 24;95(2):143-61. Epub 2014 Jul 24.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics Laboratories, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.06.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129405PMC
August 2014

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

Invest Ophthalmol Vis Sci 2014 Feb 24;55(2):986-92. Epub 2014 Feb 24.

Department of Ophthalmology, Seoul National University Hospital, Seoul, Korea.

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http://iovs.arvojournals.org/data/Journals/IOVS/933470/i1552
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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.13-12968DOI Listing
February 2014

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

Cancer Chemother Pharmacol 2013 Nov 28;72(5):953-64. Epub 2013 Aug 28.

Center for Gastric Cancer, Research Institute and Hospital, National Cancer Center, Goyang, Republic of Korea.

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http://dx.doi.org/10.1007/s00280-013-2272-0DOI Listing
November 2013

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

J Korean Med Sci 2013 Nov 31;28(11):1645-9. Epub 2013 Oct 31.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea. ; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3346/jkms.2013.28.11.1645DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3835508PMC
November 2013

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

BMC Infect Dis 2013 Nov 25;13:558. Epub 2013 Nov 25.

Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Republic of Korea.

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http://dx.doi.org/10.1186/1471-2334-13-558DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222821PMC
November 2013

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

Diagn Microbiol Infect Dis 2013 Aug 18;76(4):432-6. Epub 2013 Jun 18.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul, South Korea.

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http://dx.doi.org/10.1016/j.diagmicrobio.2013.04.012DOI Listing
August 2013

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

Exp Neurobiol 2013 Jun 27;22(2):128-31. Epub 2013 Jun 27.

Department of Neurology, Seoul National University Hospital, Seoul 110-744, Korea.

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http://dx.doi.org/10.5607/en.2013.22.2.128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3699674PMC
June 2013

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

J Korean Med Sci 2013 May 2;28(5):784-7. Epub 2013 May 2.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.

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http://dx.doi.org/10.3346/jkms.2013.28.5.784DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3653095PMC
May 2013

Comparison of 3 automated immunoassays for detection of anti-hepatitis A virus immunoglobulin M in a tertiary care hospital.

Ann Lab Med 2013 Mar 21;33(2):121-4. Epub 2013 Feb 21.

Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3343/alm.2013.33.2.121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3589637PMC
March 2013

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

Ann Lab Med 2013 Mar 21;33(2):150-2. Epub 2013 Feb 21.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.

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http://dx.doi.org/10.3343/alm.2013.33.2.150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3589643PMC
March 2013

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

Ann Lab Med 2013 Jan 17;33(1):39-44. Epub 2012 Dec 17.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3343/alm.2013.33.1.39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3535195PMC
January 2013

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

Ann Lab Med 2013 Jan 17;33(1):60-4. Epub 2012 Dec 17.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.

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http://dx.doi.org/10.3343/alm.2013.33.1.60DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3535198PMC
January 2013

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

Hemoglobin 2012 4;36(2):161-5. Epub 2012 Jan 4.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.

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http://dx.doi.org/10.3109/03630269.2011.645179DOI Listing
December 2012

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

Forensic Sci Int Genet 2012 Dec 26;6(6):e189-91. Epub 2012 Jun 26.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Republic of Korea.

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https://linkinghub.elsevier.com/retrieve/pii/S18724973120013
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http://dx.doi.org/10.1016/j.fsigen.2012.06.004DOI Listing
December 2012

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

Cancer Res Treat 2012 Dec 31;44(4):267-70. Epub 2012 Dec 31.

Department of Cardiology, National Cancer Center, Goyang, Korea.

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http://dx.doi.org/10.4143/crt.2012.44.4.267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3546274PMC
December 2012

A case report of Fanconi anemia diagnosed by genetic testing followed by prenatal diagnosis.

Ann Lab Med 2012 Sep 13;32(5):380-4. Epub 2012 Aug 13.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.

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http://dx.doi.org/10.3343/alm.2012.32.5.380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3427829PMC
September 2012

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

Neurogenetics 2012 Aug 20;13(3):275-80. Epub 2012 Apr 20.

Department of Neurology, Seoul National University Hospital, Seoul, South Korea.

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http://dx.doi.org/10.1007/s10048-012-0327-8DOI Listing
August 2012

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

J Korean Med Sci 2012 Aug 25;27(8):961-4. Epub 2012 Jul 25.

Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3346/jkms.2012.27.8.961DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3410248PMC
August 2012

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

Hum Immunol 2012 Mar 28;73(3):291-7. Epub 2011 Dec 28.

Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul 110-744, Korea.

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http://dx.doi.org/10.1016/j.humimm.2011.12.016DOI Listing
March 2012

The first study on nucleotide-level identification of Hb Koriyama in a patient with severe hemolytic anemia.

Ann Lab Med 2012 Jan 20;32(1):99-101. Epub 2011 Dec 20.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.

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http://dx.doi.org/10.3343/alm.2012.32.1.99DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3255501PMC
January 2012

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

Blood Cells Mol Dis 2010 Dec 29;45(4):276-9. Epub 2010 Oct 29.

Department of Laboratory Medicine, Seoul National University Hospital, 110-744, Seoul, Republic of Korea.

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http://dx.doi.org/10.1016/j.bcmd.2010.10.001DOI Listing
December 2010