Publications by authors named "Sung Sup Park"

100Publications

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

J Mol Diagn 2020 Nov 24. Epub 2020 Nov 24.

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

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http://dx.doi.org/10.1016/j.jmoldx.2020.11.001DOI Listing
November 2020

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

Eur J Hum Genet 2020 Nov 24. Epub 2020 Nov 24.

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/10.1038/s41431-020-00759-9DOI Listing
November 2020

Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma.

J Med Genet 2020 Nov 20. Epub 2020 Nov 20.

Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea (the Republic of)

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http://dx.doi.org/10.1136/jmedgenet-2020-107102DOI Listing
November 2020

Strabismus in chronic progressive external ophthalmoplegia.

Acta Ophthalmol 2020 Nov 15. Epub 2020 Nov 15.

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

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http://dx.doi.org/10.1111/aos.14558DOI Listing
November 2020

FABP3-mediated membrane lipid saturation alters fluidity and induces ER stress in skeletal muscle with aging.

Nat Commun 2020 11 9;11(1):5661. Epub 2020 Nov 9.

Aging Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon, 34141, Republic of Korea.

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http://dx.doi.org/10.1038/s41467-020-19501-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653047PMC
November 2020

Hereditary Fructose Intolerance Diagnosed in Adulthood.

Gut Liver 2020 Oct 8. Epub 2020 Oct 8.

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

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http://dx.doi.org/10.5009/gnl20189DOI Listing
October 2020

Optimization and validation of a fluorogenic dipeptidyl peptidase 4 enzymatic assay in human plasma.

Anal Biochem 2020 Sep 12;612:113952. Epub 2020 Sep 12.

Department of Biotechnology, College of Life Sciences and Biotechnology, Korea University, Seoul, 02841, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.ab.2020.113952DOI Listing
September 2020

Young-Onset Parkinson's Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7.

J Mov Disord 2020 Sep 9;13(3):225-228. Epub 2020 Sep 9.

Department of Neurology and Movement Disorder Center, Parkinson Study Group, Neuroscience Research Institute, College of Medicine, Seoul National University Hospital, Seoul, Korea.

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http://dx.doi.org/10.14802/jmd.20026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7502300PMC
September 2020

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

Korean J Intern Med 2020 Aug 20. Epub 2020 Aug 20.

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

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http://dx.doi.org/10.3904/kjim.2020.014DOI Listing
August 2020

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

Orphanet J Rare Dis 2020 08 10;15(1):205. Epub 2020 Aug 10.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Jongnogu Daehakro 101, Seoul, 03080, Republic of Korea.

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http://dx.doi.org/10.1186/s13023-020-01480-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7418424PMC
August 2020

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

BMC Pediatr 2020 08 5;20(1):369. Epub 2020 Aug 5.

Department of Pediatrics, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-Gu, 110-769, Seoul, Korea.

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http://dx.doi.org/10.1186/s12887-020-02260-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7404915PMC
August 2020

No association between polymorphisms and normal-tension glaucoma.

Ophthalmic Genet 2020 10 28;41(5):427-431. Epub 2020 Jun 28.

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

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http://dx.doi.org/10.1080/13816810.2020.1783690DOI Listing
October 2020

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

J Korean Med Sci 2020 Jun 29;35(25):e197. Epub 2020 Jun 29.

Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3346/jkms.2020.35.e197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7324268PMC
June 2020

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

Photodermatol Photoimmunol Photomed 2020 May 7. Epub 2020 May 7.

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

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http://dx.doi.org/10.1111/phpp.12568DOI Listing
May 2020

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

Eur J Med Genet 2020 Jun 31;63(6):103921. Epub 2020 Mar 31.

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

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http://dx.doi.org/10.1016/j.ejmg.2020.103921DOI Listing
June 2020

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

Korean J Ophthalmol 2020 04;34(2):170-172

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.2019.0080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7105792PMC
April 2020

Excess Accumulation of Lipid Impairs Insulin Sensitivity in Skeletal Muscle.

Int J Mol Sci 2020 Mar 12;21(6). Epub 2020 Mar 12.

Aging Research Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon 34141, Korea.

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http://dx.doi.org/10.3390/ijms21061949DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7139950PMC
March 2020

Direct Haplotyping-Based Noninvasive Prenatal Test for Myotonic Dystrophy Type 1 with Large CTG Expansion.

Clin Chem 2020 04;66(4):614-615

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/10.1093/clinchem/hvaa025DOI Listing
April 2020

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

Korean J Ophthalmol 2020 02;34(1):94-95

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.2019.0083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7010465PMC
February 2020

Brainstem-Predominant Lewy-Related Pathology in a Patient with Parkinson's Disease without Dementia.

J Mov Disord 2020 Jan 19;13(1):74-76. Epub 2019 Dec 19.

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

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http://dx.doi.org/10.14802/jmd.19059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6987527PMC
January 2020

NADPH Oxidase 4 Contributes to Myoblast Fusion and Skeletal Muscle Regeneration.

Oxid Med Cell Longev 2019 18;2019:3585390. Epub 2019 Nov 18.

Aging Research Center, Korea Research Institute of Bioscience and Biotechnology, 125 Gwahak-ro, Yuseong-gu, Daejeon 34141, Republic of Korea.

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http://dx.doi.org/10.1155/2019/3585390DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885834PMC
April 2020

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

Mol Vis 2019 14;25:679-690. Epub 2019 Nov 14.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6857773PMC
June 2020

Comparative genomics of Mycoplasma pneumoniae isolated from children with pneumonia: South Korea, 2010-2016.

BMC Genomics 2019 Nov 29;20(1):910. Epub 2019 Nov 29.

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

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http://dx.doi.org/10.1186/s12864-019-6306-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6884898PMC
November 2019

Safety, tolerability and pharmacokinetics and pharmacodynamics of HL2351, a novel hybrid fc-fused interleukin-1 receptor antagonist, in healthy subjects: A first-in-human study.

Br J Clin Pharmacol 2020 02 3;86(2):372-379. Epub 2020 Jan 3.

Department of Clinical Pharmacology and Therapeutics, Seoul National University College of Medicine and Hospital, Seoul, Republic of Korea.

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http://dx.doi.org/10.1111/bcp.14161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7015738PMC
February 2020

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

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

Pediatr Gastroenterol Hepatol Nutr 2019 Jul 18;22(4):392-399. Epub 2019 Jun 18.

Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea.

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http://dx.doi.org/10.5223/pghn.2019.22.4.392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6629596PMC
July 2019

Liquid biopsy in pancreatic ductal adenocarcinoma: current status of circulating tumor cells and circulating tumor DNA.

Mol Oncol 2019 08 30;13(8):1623-1650. Epub 2019 Jul 30.

Department of Surgery, Stanford University School of Medicine, Stanford, CA, USA.

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http://dx.doi.org/10.1002/1878-0261.12537DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6670020PMC
August 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

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

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

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

Sarcopenia targeting with autophagy mechanism by exercise.

BMB Rep 2019 Jan;52(1):64-69

Aging Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141; Department of Life Science, University of Science and Technology (UST), Daejeon 34113, Korea.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6386226PMC
January 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

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

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

Molecular mechanisms and therapeutic interventions in sarcopenia.

Osteoporos Sarcopenia 2017 Sep 27;3(3):117-122. Epub 2017 Sep 27.

Aging Research Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon, Korea.

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http://dx.doi.org/10.1016/j.afos.2017.08.098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372765PMC
September 2017

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

J Glaucoma 2017 Nov;26(11):1030-1035

Departments of *Ophthalmology ‡Laboratory Medicine §Biomedical Research Institute, Seoul National University Hospital †Department of Biostatistics, Seoul National University Boramae Hospital, Seoul, Korea.

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http://dx.doi.org/10.1097/IJG.0000000000000751DOI Listing
November 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

Psychiatric symptoms in myoclonus-dystonia syndrome are just concomitant features regardless of the SGCE gene mutation.

Parkinsonism Relat Disord 2017 Sep 23;42:73-77. Epub 2017 Jun 23.

Department of Neurology, 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.parkreldis.2017.06.014DOI Listing
September 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

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

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

Parkinsonism Relat Disord 2017 Jul 12;40:69-72. Epub 2017 Apr 12.

Graduate School of Convergence Science and Technology, Seoul National University, Suwon, Republic of Korea.

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http://dx.doi.org/10.1016/j.parkreldis.2017.04.003DOI Listing
July 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

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

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

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

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

Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis.

World J Gastroenterol 2016 May;22(20):4901-7

Ji Sook Park, Jae Sung Ko, Jeong Kee Seo, Jin Soo Moon, Department of Pediatrics, Seoul National University College of Medicine, Seoul 110-799, South Korea.

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http://dx.doi.org/10.3748/wjg.v22.i20.4901DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4873882PMC
May 2016

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

Pediatr Gastroenterol Hepatol Nutr 2016 Mar 22;19(1):71-5. Epub 2016 Mar 22.

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

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http://dx.doi.org/10.5223/pghn.2016.19.1.71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821985PMC
March 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

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

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

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

GPR171 expression enhances proliferation and metastasis of lung cancer cells.

Oncotarget 2016 Feb;7(7):7856-65

Aging Research Institute, Korea Research Institute of Bioscience and Biotechnology, Daejeon 305-806, Republic of Korea.

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http://dx.doi.org/10.18632/oncotarget.6856DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4884959PMC
February 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

NOX5-L can stimulate proliferation and apoptosis depending on its levels and cellular context, determining cancer cell susceptibility to cisplatin.

Oncotarget 2015 Nov;6(36):39235-46

Aging Research Institute, Korea Research Institute of Bioscience and Biotechnology, Daejeon 305-806, Republic of Korea.

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http://dx.doi.org/10.18632/oncotarget.5743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4770769PMC
November 2015

The Pathogenic Role of Low Range Repeats in SCA17.

PLoS One 2015 12;10(8):e0135275. Epub 2015 Aug 12.

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0135275PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4534202PMC
May 2016

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

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

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

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

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

J Pediatr Gastroenterol Nutr 2015 Sep;61(3):285-91

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

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http://dx.doi.org/10.1097/MPG.0000000000000796DOI Listing
September 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

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

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

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

Astrocytic phospholipase A2 contributes to neuronal glutamate toxicity.

Brain Res 2014 Nov 18;1590:97-106. Epub 2014 Oct 18.

Aging Intervention Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), 125 Gwahak-ro, Yuseong-gu, Daejeon 305-806, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.brainres.2014.10.015DOI Listing
November 2014

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

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

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

Proteomic profiling of serum from patients with tuberculosis.

Ann Lab Med 2014 Sep 21;34(5):345-53. Epub 2014 Aug 21.

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

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http://dx.doi.org/10.3343/alm.2014.34.5.345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4151002PMC
September 2014