최종락
#진단유전학#종양분자유전#종양세포유전
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학력
연세대학교 의학과 학사(1991)
연세대학교 의학과 석사(2002)
인하대학교 의학과 박사(2006)
연세대학교 의학과 석사(2002)
인하대학교 의학과 박사(2006)
경력
1996.-1999. 연세의대 강사
1999.-2002. 연세의대 전임강사
2002.-2006. 연세의대 조교수
2006.-2011. 연세의대 부교수
2011.-현재 연세의대 교수
2017.-현재 연세의대 주임교수
1999.-2002. 연세의대 전임강사
2002.-2006. 연세의대 조교수
2006.-2011. 연세의대 부교수
2011.-현재 연세의대 교수
2017.-현재 연세의대 주임교수
논문
A case of Klinefelter syndrome with retroperitoneal teratoma
YONSEI MEDICAL JOURNAL 41/ :136-139,2000
Tissue plasminogen activator and plasminogen activator inhibitor-1 in human choledochal bile
YONSEI MEDICAL JOURNAL 41/ :119-122,2000
A Case of del(13)(q22) with Multiple Major Congenital Anomalies, Imperforate Anus and Penoscrotal Transposition.
YONSEI MEDICAL JOURNAL 42/0 :558-562,2001
Presence of 844ins68 in the cystathionine beta-synthase gene in Asians (Koreans)
THROMBOSIS AND HAEMOSTASIS 86/ :1130-1130,2001
Homozygous VN (677C to T) and d/D (2756G to A) variants in the methylenetetrahydrofolate and methionine synthase genes in a case of hyperhomocysteinemia with stroke at young age.
EXPERIMENTAL AND MOLECULAR MEDICINE 33/2 :106-109,2001
A novel silent substitution (C8516T) in exon 9 of the human PROC gene
YONSEI MEDICAL JOURNAL 42/ :364-366,2001
Evaluation of HER2/neu status by real-time quantitative PCR in breast cancer
YONSEI MEDICAL JOURNAL 43/ :335-340,2002
Detection of an ala601Thr mutation of plasminogen gene in 3 out of 36 Korean patients with deep vein thrombosis
JOURNAL OF KOREAN MEDICAL SCIENCE 18/ :167-170,2003
Adoptive immunotherapy for Cytomegalovirus (CMV) disease in immunocompromised patients
YONSEI MEDICAL JOURNAL 45/ :18-22,2004
CMV 질환의 면역치료법 개발에 대한 최신지견
건국의과학학술지(The Konkuk Journal. Of Medical Sciences) 13/2 :-,2004
Rifampin 내성 결핵의 진단에서 INNO-LiPA 검사법의 임상적 의미
결핵 및 호흡기질환(Tuberculosis And Respiratory Diseases) 55/4 :-,2004
Epidemiological characteristics and molecular basis of fluoroquinolone-resistant Neisseria gonorrhoeae strains isolated in Korea and nearby countries
JOURNAL OF ANTIMICROBIAL CHEMOTHERAPY 54/ :451-455,2004
Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies
YONSEI MEDICAL JOURNAL 46/3 :347-352,2005
Homozygous type I protein C deficiency in neonatal purpura fulminans with a novel frame-shift deletion of 10 base pairs in exon 8 of PROC gene [4]
JOURNAL OF THROMBOSIS AND HAEMOSTASIS 3/ :593-595,2005
A novel fibrinogen variant (fibrinogen Seoul II; A alpha Gln328Pro) characterized by impaired fibrin alpha-chain cross-linking
BLOOD 108/6 :1919-1924,2006
Plasma factor XIII activity in patients with disseminated intravascular coagulation
YONSEI MEDICAL JOURNAL 47/2 :196-200,2006
GnRH (Gonadotropin-Releasing Hormone)에 의한 자궁내막암 유래 세포주의 세포 증식 억제 기전에 있어서 Integrin, FAK (FocalAdhesion Kinase) 및 ERK (Extracellular Signal Regulated Kinase)의 역할
대한불임학회지(Korean Journal Of Fertility And Sterility) 33/ :115-117,2006
Plasma level of IL-6 and its relationship to procoagulant and fibrinolytic markers in acute ischemic stroke
YONSEI MEDICAL JOURNAL 47/2 :201-206,2006
Clinical evaluation of micro-scale chip-based PCR system for rapid detection of hepatitis B virus
BIOSENSORS & BIOELECTRONICS 21/ :2161-2169,2006
Fibrinogen Seoul (FGG Ala341Asp): A novel mutation associated with hypodysfibrinogenemia
CLINICAL AND APPLIED THROMBOSIS-HEMOSTASIS 12/3 :338-343,2006
t(5;12)(q13;p13) in acute myeloid leukemia with preceding granulocytic sarcoma
CANCER GENETICS AND CYTOGENETICS 177/2 :158-160,2007
자동혈구분석기 Cell-Dyn Sapphire의 평가
대한진단검사의학회지(The Korean Journal of Laboratory Medicine) 27/3 :162-168,2007
한국 von Willebrand병 환자의 von Willebrand 인자 유전자 돌연변이 조사
대한진단검사의학회지(The Korean Journal of Laboratory Medicine) 27/3 :169-176,2007
A der(1;15)(q10;q10) is a rare nonrandom whole-arm translocation in patients with acute lymphoblastic leukemia
CANCER GENETICS AND CYTOGENETICS 179/2 :132-135,2007
Preceding orbital granulocytic sarcoma in an adult patient with acute myelogenous leukemia with t(8;21): a case study and review of the literature
Cancer Genetics And Cytogenetics 185/ :51-54,2008
A novel de novo mutation in the serine-threonine kinase STKII gene in a Korean patient with Peutz-Jeghers syndrome
Bmc Medical Genetics 9/ :-,2008
Complex t(8;1.9;21)(q22;p13;q22) as a sole abnormality in a patient with de novo acute myeloid leukemia
Cancer Genetics And Cytogenetics 185/ :109-112,2008
Acute erythroleukemia with der(1;7)(q10;p10) as a sole acquired abnormality after treatment with azathioprine
Cancer Genetics And Cytogenetics 186/ :58-60,2008
Linear Relationship between ADAMTS13 Activity and Platelet Dynamics Even Before Severe Thrombocytopenia
Annals Of Clinical And Laboratory Science 38/ :368-375,2008
Rare translocations involving chromosome band 8p11 in myeloid neoplasms
Cancer Genetics And Cytogenetics 186/ :127-129,2008
Trisomy 8 in an elderly patient with acute lymphoblastic leukemia as a sole abnormality
Cancer Genetics And Cytogenetics 187/ :57-58,2008
듀센형근이영양증 유전자의 결실 돌연변이 검출을 위한 Dual Priming Oligonucleotide 다중 PCR법의 평가
Korean Journal Of Laboratory Medicine 28/5 :386-391,2008
Acute promyelocytic leukemia relapsing as secondary acute myelogenous leukemia with translocation t(3;21)(q26;q22) and RUNX1-MDS1-EVI1 fusion transcript
Cancer Genetics And Cytogenetics 187/2 :61-73,2008
A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer
Cancer Genetics And Cytogenetics 182/2 :136-139,2008
Becker muscular dystrophy with r(X) carrying an out-of-frame DMD deletion
Pediatric Neurology 39/2 :129-132,2008
8번 염색체 사체성을 보인 급성단구성백혈병 1예
Korean Journal Of Laboratory Medicine 28/4 :262-266,2008
Paracentric inversion-associated t(8;21) variant in de novo acute myelogenous leukemia: characteristic patterns of conventional cytogenetics, FISH, and multicolor banding analysis
Cancer Genetics And Cytogenetics 183/1 :72-76,2008
8p11 myeloproliferative syndrome preceded by t(8;9)(p11;q33), CEP110/FGFR1 fusion transcript: morphologic, molecular, and cytogenetic characterization of myeloid neoplasms associated with eosinophilia and FGFR1 abnormality
Cancer Genetics And Cytogenetics 181/ :93-99,2008
MLL rearrangement with t(6;11)(q15;q23) as a sole abnormality in a patient with de novo acute myeloid leukemia: conventional cytogenetics, FISH, and multicolor FISH analyses for detection of rare MLL-related chromosome abnormalities
Cancer Genetics And Cytogenetics 187/ :50-53,2008
Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer
Cancer Genetics and Cytogenetics 188/ :61-64,2009
Acute promyelocytic leukemia with insertion of PML exon 7a and partial deletion of exon 3 of RARA: a novel variant transcript related to aggressive course and not detected with real-time polymerase chain reaction analysis
Cancer Genetics and Cytogenetics 188/ :103-107,2009
Biphenotypic acute leukemia with b2a2 fusion transcript and trisomy 21
Cancer Genetics and Cytogenetics 188/ :129-131,2009
Acute promyelocytic leukemia in early pregnancy with translocation t(15;17) and variant PML/RARA fusion transcripts
Cancer Genetics and Cytogenetics 188/ :48-51,2009
The Relationship Between COL3A1 Exon 31 Polymorphism and Pelvic Organ Prolapse
JOURNAL OF UROLOGY 181/ :1213-1216,2009
JAK2 V617F/C618R mutation in a patient with polycythemia vera: A case study and review of the literature
Cancer Genetics and Cytogenetics 189/ :43-47,2009
Hereditary protein S deficiency from a novel large deletion mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification (MLPA)
Thrombosis Research 123/5 :793-795,2009
A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family
Blood Coagulation & Fibrinolysis 20/ :150-156,2009
Therapy-Related Myelodysplastic Syndrome/Acute Myeloid Leukemia after Treatment with Temozolomide in a Patient with Glioblastoma Multiforme
Annals Of Clinical And Laboratory Science 39/4 :392-398,2009
Therapy-related acute lymphoblastic leukemia with t(9;22)(q34;q11.2): a case study and review of the literature
Cancer Genetics and Cytogenetics 191/ :51-54,2009
Concomitant Isochromosome 17q and Trisomy 14 in a Patient with Myelodysplastic Syndrome in Leukemic Transformation
Annals Of Clinical And Laboratory Science 39/2 :176-181,2009
A Novel PHEX Mutation in a Korean Patient with Sporadic Hypophosphatemic Rickets
Annals Of Clinical And Laboratory Science 39/2 :182-187,2009
The clopidogrel resistance can be attenuated with triple antiplatelet therapy in patients undergoing drug-eluting stents implantation
International Journal Of Cardiology 134/3 :351-355,2009
Two case reports of 1q triplication in myeloproliferative neoplasms
Cancer Genetics and Cytogenetics 191/2 :111-112,2009
Non-age related Y chromosome loss in an elderly patient with acute promyelocytic leukemia
Leukemia Research 33/ :e114-e115,2009
der(1)t(1;19)(p13;p13.1) in two elderly patients with myeloid neoplasms: New case reports and review of the literature
Leukemia Research 33/8 :128-131,2009
Concomitant t(3;3)(q21;q26), trisomy 19, and E255V mutation associated with imatinib mesylate resistance in chronic myelogenous leukemia
Cancer Genetics and Cytogenetics 190/ :46-48,2009
Detection of a novel CBFB/MYH11 variant fusion transcript (K-type) showing partial insertion of exon 6 of CBFB gene using two commercially available multiplex RT-PCR kits
Cancer Genetics and Cytogenetics 189/2 :87-92,2009
A tandem triplication, trp(1)(q21q32), in a patient with follicular lymphoma: a case study and review of the literature
Cancer Genetics and Cytogenetics 189/ :127-131,2009
BCR/ABL rearrangement with b3a3 fusion transcript in a case of childhood acute lymphoblastic leukemia
Cancer Genetics and Cytogenetics 189/ :132-137,2009
Changes in expression of fibulin-5 and lysyl oxidase-like 1 associated with pelvic organ prolapse
European Journal Of Obstetrics Gynecology And Reproductive Biology 145/ :117-122,2009
The First Korean Case of Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia) Confirmed by TGFB1 Gene Mutation Analysis
Journal Of Korean Medical Science 24/ :737-740,2009
Chronic Myelomonocytic Leukemia with der(9)t(1;9)(q11;q34) as a Sole Abnormality
Annals Of Clinical And Laboratory Science 39/3 :307-312,2009
Polymorphism of a COLIA1 Gene Sp1 Binding Site in Korean Women with Pelvic Organ Prolapse
Yonsei Medical Journal 50/4 :564-568,2009
Oxidative Status in Iron-Deficiency Anemia
Journal Of Clinical Laboratory Analysis 23/5 :319-323,2009
Detection of FUS-ERG chimeric transcript in two cases of acute myeloid leukemia with t(16;21)(p11.2;q22) with unusual characteristics
Cancer Genetics and Cytogenetics 194/2 :111-118,2009
De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence
Korean Journal of Pediatrics 52/5 :603-606,2009
The Role of BRAFV600E Mutation and Ultrasonography for the Surgical Management of a Thyroid Nodule Suspicious for Papillary Thyroid Carcinoma on Cytology
Annals Of Surgical Oncology 16/11 :3125-3131,2009
CASP8AP2 is a novel partner gene of MLL rearrangement with t(6;11)(q15;q23) in acute myeloid leukemia
Cancer Genetics and Cytogenetics 195/1 :94-95,2009
Therapy-related myelodysplastic syndrome with der(17)t(12;17)(q13;p13) as a new recurrent cytogenetic abnormality after treatment for chronic lymphocytic leukemia
Leukemia Research 33/7 :1001-1004,2009
A novel three-way t(7;21;8)(q11.2;q22;q22) in a patient with acute myeloid leukemia
Cancer Genetics and Cytogenetics 195/ :195-197,2009
Association of BRAFV600E mutation with poor clinical prognostic factors and US features in korean patients with papillary thyroid microcarcinoma
Radiology 253/3 :854-860,2009
AML1-ETO 양성인 양표현형 급성 백혈병의 1예
대한내과학회지 76/5 :617-621,2009
Association between acute promyelocytic leukemia and ring chromosome 6
Cancer Genetics and Cytogenetics 192/1 :48-50,2009
Comparisons of Three Automated Systems for Genomic DNA Extraction in a Clinical Diagnostic Laboratory
YONSEI MEDICAL JOURNAL 51/1 :104-110,2010
Three-way translocation involving MLL, MLLT1, and a novel third partner, NRXN1, in a patient with acute lymphoblastic leukemia and t(2;19;11) (p12;p13.3;q23)
Cancer Genetics and Cytogenetics 197/1 :32-38,2010
Dual priming oligonucleotide-based multiplex PCR analysis for detection of BRAFV600E mutation in FNAB samples of thyroid nodules in BRAF V600E mutation-prevalent area
HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK 32/4 :490-498,2010
A novel t(1;12)(q21;q24) in a patient with myelodysplastic syndrome
Annals of Hematology 89/ :513-516,2010
Short Report: Automated Detection of Malaria-Associated Pseudoeosinophilia and Abnormal WBC Scattergram by the Sysmex XE-2100 Hematology Analyzer: A Clinical Study with 1,801 Patients and Real-Time Quantitative PCR Analysis in Vivax Malaria-Endemic
American Journal of Tropical Medicine and Hygiene 82/3 :412-414,2010
Analysis of fluorescence in situ hybridization, mtDNA quantification, and mtDNA sequence for the detection of early bladder cancer
Cancer Genetics and Cytogenetics 198/2 :107-117,2010
Detection of t(3;5) and NPM1/MLF1 rearrangement in an elderly patient with acute myeloid leukemia: clinical and laboratory study with review of the literature
Cancer Genetics and Cytogenetics 199/ :101-109,2010
Two childhood cases of acute leukemia with t(16;21)(p11.2;q22): second case report of infantile acute lymphoblastic leukemia with unusual type of FUS-ERG chimeric transcript
Cancer Genetics and Cytogenetics 200/2 :180-183,2010
An SRY-Deleted XXY Female Resulting from a Paternally Inherited t(Y;22)
Annals of Clinical and Laboratory Science 40/3 :295-299,2010
Identification of Adenovirus, Influenza Virus, Parainfluenza Virus, and Respiratory Syncytial Virus by Two Kinds of Multiplex Polymerase Chain Reaction (PCR) and a Shell Vial Culture in Pediatric Patients with Viral Pneumonia
YONSEI MEDICAL JOURNAL 51/5 :761-767,2010
Molecular characterization of alternative SET-NUP214 fusion transcripts in a case of acute undifferentiated leukemia
Cancer Genetics and Cytogenetics 201/2 :73-80,2010
Prognostic significance of trisomy 6 in an adult acute myeloid leukemia with t(8;21)
Cancer Genetics and Cytogenetics 202/2 :141-143,2010
Constitutional pericentric inversion 9 and hematological disorders: a Korean tertiary institution's experience over eight years
Annals of Clinical and Laboratory Science 40/3 :273-277,2010
Constitutional Pericentric Inversion 9 in Korean Patients with Chronic Myelogenous Leukemia
KOREAN JOURNAL OF LABORATORY MEDICINE 30/3 :218-223,2010
Ambras syndrome in a Korean patient with balanced pericentric inversion (8)(p11.2q24.2)
Journal of Dermatological Science 59/3 :204-206,2010
A Case of Pseudoisodicentric Chromosome 18q Detected at Prenatal Diagnosis
KOREAN JOURNAL OF LABORATORY MEDICINE 30/4 :440-443,2010
Leukemic transformation associated with massive hyperdiploidy in myelodysplastic syndrome (MDS) with der(1;7)(q10;p10): A novel case study
Leukemia Research 34/8 :E208-E209,2010
Association between Survivor Motor Neuron 2 (SMN2) Gene Homozygous Deletion and Sporadic Lower Motor Neuron Disease in a Korean Population
Annals of Clinical and Laboratory Science 40/4 :368-374,2010
Diagnostic Value of BRAF(V600E) Mutation Analysis of Thyroid Nodules According to Ultrasonographic Features and the Time of Aspiration
ANNALS OF SURGICAL ONCOLOGY 18/ :792-799,2011
Alteration of Elastin Metabolism in Women With Pelvic Organ Prolapse
JOURNAL OF UROLOGY 185/5 :1786-1792,2011
A Novel PTEN Mutation in a Korean Patient with Cowden Syndrome and Vascular Anomalies
ACTA DERMATO-VENEREOLOGICA 91/1 :88-90,2011
Acute Promyelocytic Leukemia With Complex Translocation t(5;17;15)(q35;q21;q22): Case Report and Review of the Literature
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY 33/7 :326-329,2011
Case Report: A Heparin Binding Site Arg79Cys Missense Mutation in the SERPINC1 Gene in a Korean Patient with Hereditary Antithrombin Deficiency
ANNALS OF CLINICAL AND LABORATORY SCIENCE 41/1 :89-92,2011
Letter to the Editor: Diagnostic Standardization of Leukemia Fusion Gene Detection System using Multiplex Reverse Transcriptase-polymerase Chain Reaction in Korea
JOURNAL OF KOREAN MEDICAL SCIENCE 26/10 :1399-1400,2011
Rapid Identification of Thrombocytopenia-Associated Multiple Organ Failure Using Red Blood Cell Parameters and a Volume/Hemoglobin Concentration Cytogram
YONSEI MEDICAL JOURNAL 52/5 :845-850,2011
Case Report: A Novel Mutation in the MECP2 Gene in a Korean Patient with Rett Syndrome
ANNALS OF CLINICAL AND LABORATORY SCIENCE 41/1 :93-96,2011
Acute Promyelocytic Leukemia with Trisomy 8 and del(9)(q22) after Treatment of Cervical Cancer with Concurrent Chemoradiotherapy: A Case Report
ONKOLOGIE 34/7 :388-390,2011
Pharmacokinetic Comparison of Sustained- and Immediate-Release Oral Formulations of Cilostazol in Healthy Korean Subjects: A Randomized, Open-Label, 3-Part, Sequential, 2-Period, Crossover, Single-Dose, Food-Effect, and Multiple-Dose Study
CLINICAL THERAPEUTICS 33/12 :2038-2053,2011
Osteolytic mandible presenting as an initial manifestation of an adult acute lymphoblastic leukaemia
INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY 40/12 :1438-1440,2011
DELTA NEUTROPHIL INDEX: A PROMISING DIAGNOSTIC AND PROGNOSTIC MARKER FOR SEPSIS
SHOCK 37/ :242-246,2012
Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect
CLINICAL GENETICS 82/2 :180-186,2012
CD5-negative Blastoid Variant Mantle Cell Lymphoma with Complex CCND1/IGH and MYC Aberrations
ANNALS OF LABORATORY MEDICINE 32/1 :95-98,2012
정상 산모들과 임신중독증 산모들의 혈청 중 네프린 발현 빈도의 차이: 예비결과 보고
Korean Journal of Obstetrics and Gynecology 55/08 :546-551,2012
BRAFV600E mutation testing in fine needle aspirates of thyroid nodules: Potential value of real-time PCR
ANNALS OF CLINICAL AND LABORATORY SCIENCE 42/3 :258-265,2012
Fibrinogen residue gamma Ala341 is necessary for calcium binding and 'A-a' interactions
THROMBOSIS AND HAEMOSTASIS 107/5 :875-883,2012
A novel three-way variant t(4;17;5)(p16;q23;q31) in a case of secondary plasma cell leukemia
LEUKEMIA RESEARCH 36/5 :101-102,2012
Submicroscopic Deletion of FGFR1 Gene Is Recurrently Detected in Myeloid and Lymphoid Neoplasms Associated with ZMYM2-FGFR1 Rearrangements: A Case Study
ACTA HAEMATOLOGICA 127/2 :119-123,2012
Comparison Study of the Rates of Manual Peripheral Blood Smear Review From 3 Automated Hematology Analyzers, Unicel DxH 800, ADVIA 2120i, and XE 2100, Using International Consensus Group Guidelines
ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE 136/11 :1408-1413,2012
Detection of SET-NUP214 rearrangement using multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) in acute leukemias: a case report and literature review on a Korean case series
ANNALS OF HEMATOLOGY 91/7 :1135-1138,2012
A Gly1609Arg Missense Mutation in the vWF Gene in a Korean Patient with von Willebrand Disease Type 2A
ANNALS OF CLINICAL AND LABORATORY SCIENCE 42/1 :98-102,2012
Proper Indication of BRAFV600E Mutation Testing in Fine-Needle Aspirates of Thyroid Nodules
PLOS ONE 8/5 :e64505-e64505,2013
Application of BRAF, NRAS, KRAS mutations as markers for the detection of papillary thyroid cancer from FNAB specimens by pyrosequencing analysis
CLINICAL CHEMISTRY AND LABORATORY MEDICINE 51/8 :1673-1680,2013
Study of peripheral BRAFV600E mutation as a possible novel marker for papillary thyroid carcinomas
HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK 35/11 :1630-1633,2013
A novel F11 mutation in a Korean pediatric patient with recurrent epistaxis
BLOOD COAGULATION & FIBRINOLYSIS 24/ :433-435,2013
The MLL recombinome of acute leukemias in 2013
LEUKEMIA 27/11 :2165-2176,2013
A Comparative Study of the Diagnostic Performance of the GENEDIA Avellino Corneal Dystrophy Mutation Detection Kit and Screening Master Mix and a Direct Sequencing Method to Detect Mutations in the TGFB1 Gene
Journal of Laboratory Medicine and Quality Assurance 35/- :115-121,2013
Cys482Trp Missense Mutation in the Coagulation Factor XI Gene (F11) in a Korean Patient with Factor XI Deficiency
ANNALS OF LABORATORY MEDICINE 34/4 :332-335,2014
Bone marrow hypoplasia, isochromosome 8q and deletion of chromosome 6q preceding B-cell lymphoma
Blood Research 49/3 :200-203,2014
Complete genome sequence of the bacteriophage YMC/09/04/R1988 MRSA BP: A lytic phage from a methicillin-resistant Staphylococcus aureus isolate
FEMS MICROBIOLOGY LETTERS 359/2 :144-146,2014
MicroRNA-30d and microRNA-181a regulate HOXA11 expression in the uterosacral ligaments and are overexpressed in pelvic organ prolapse
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE 19/2 :501-509,2015
Clinical Implication of Highly Sensitive Detection of the BRAFV600E Mutation in Fine-Needle Aspirations According to the Thyroid Bethesda System in Patients With Conventional Papillary Thyroid Carcinoma
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY 124/5 :392-399,2015
Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement
JOURNAL OF MEDICAL GENETICS 52/10 :706-709,2015
Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder.
ANNALS OF LABORATORY MEDICINE 35/5 :510-518,2015
NOTCH2 missplicing can occur in relation to apoptosis
BLOOD 126/14 :1731-1732,2015
천식 치료 중 우연히 발견된 Birt-Hogg-Dube 증후군 1예
Allergy Asthma & Respiratory Disease 3/3 :232-235,2015
Isodicentric Chromosome 15 Syndrome in a Korean Patient With Caf?-au-lait Spots
ANNALS OF LABORATORY MEDICINE 35/4 :474-476,2015
Survey of Clinical Laboratory Practices for 2015 Middle East Respiratory Syndrome Coronavirus Outbreak in the Republic of Korea
ANNALS OF LABORATORY MEDICINE 36/2 :154-161,2016
Bone Marrow Chimerism Detection Using Next Generation Sequencing Based on Single Nucleotide Polymorphisms Following Liver Transplantation: Comparison With Short Tandem Repeat-PCR
ANNALS OF LABORATORY MEDICINE 36/1 :82-84,2016
A multicenter phase II study of sorafenib in combination with erlotinib in patients with advanced non-small cell lung cancer (KCSG-0806)
LUNG CANCER 93/0 :1-8,2016
Minor BCR-ABL1-Positive Acute Myeloid Leukemia Associated With the NPM1 Mutation and FLT3 Internal Tandem Duplication
ANNALS OF LABORATORY MEDICINE 36/3 :263-265,2016
Development and comparison of warfarin dosing algorithms for stroke patients
YONSEI MEDICAL JOURNAL 57/3 :635-640,2016
Guidelines for the Laboratory Diagnosis of Middle East Respiratory Syndrome Coronavirus in Korea
Infection and Chemotherapy 48/1 :61-69,2016
Korean Society for Laboratory Medicine Practice Guidelines for the Molecular Diagnosis of Middle East Respiratory Syndrome During an Outbreak in Korea in 2015
ANNALS OF LABORATORY MEDICINE 36/3 :203-208,2016
Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia
ANNALS OF LABORATORY MEDICINE 36/5 :475-480,2016
Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variants
BREAST CANCER RESEARCH AND TREATMENT 158/3 :433-440,2016
t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia
ANNALS OF LABORATORY MEDICINE 36/4 :396-398,2016
Chronic Myeloid Leukemia With Rare Variant b2a3 (e13a3) BCR-ABL1 Fusion
ANNALS OF LABORATORY MEDICINE 36/3 :287-289,2016
Concomitant AID Expression and BCL7A Loss Associates With Accelerated Phase Progression and Imatinib Resistance in Chronic Myeloid Leukemia
ANNALS OF LABORATORY MEDICINE 37/2 :177-179,2017
Identification of cell morphology parameters from automatic hematology analyzers to predict peripheral blood CD34 positive cell count after mobilization
PLOS ONE 12/3 :174,286-,2017
Panel strain of Klebsiella pneumoniae for beta-lactam antibiotic evaluation: their phenotypic and genotypic characterization
PeerJ 5/ :e2896-,2017
First report of blaOXA-499 as a carbapenemase 1 gene from Acinetobacter pittii
ANTIMICROBIAL AGENTS AND CHEMOTHERAPY 61/5 :e02676-16-,2017
Validation and Optimization of the Ion Torrent S5 XL Sequencer and Oncomine Workflow for BRCA1 and BRCA2 Genetic Testing
ONCOTARGET 8/21 :34,858-34,866,2017
A novel association between relaxin receptor polymorphism and hematopoietic stem cell yield after mobilization
PLOS ONE 12/6 :e0179986-,2017
Telomere length in alcohol dependence: A role for impulsive choice and childhood maltreatment
PSYCHONEUROENDOCRINOLOGY 83/ :72-78,2017
The effect of trauma and PTSD on telomere length: An exploratory study in people exposed to combat trauma
SCIENTIFIC REPORTS 7/1 :4375-,2017
Effects of Neutralization by Soluble ABH Antigens Produced by Transplanted Kidneys From ABO-Incompatible Secretor Donors
ANNALS OF LABORATORY MEDICINE 37/3 :254-260,2017
Molecular epidemiology and resistome analysis of multidrug-resistant ST11 Klebsiella pneumoniae strain containing multiple copies of extended-spectrum β-lactamase genes using whole-genome sequencing
NEW MICROBIOLOGICA 40/1 :38-44,2017
Whole genome and transcriptome analysis reveal MALDI-TOF MS and SDS-PAGE have limited performance for the detection of the key outer membrane protein in carbapenem-resistant Klebsiella pneumoniae isolates
ONCOTARGET 8/49 :84,818-84,826,2017
Quinidine Trial in a Patient with Epilepsy of Infancy with Migrating Focal Seizure and KCNT1 Mutation
Journal of the Korean Child Neurology Society(대한소아신경학회지) 25/3 :169-173,2017
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis
MOLECULAR VISION 23/ :649-659,2017
Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome
JAMA OPHTHALMOLOGY 135/12 :1376-1385,2017
Mowat-Wilson syndrome presenting with fever-associated seizures.
EPILEPTIC DISORDERS 19/4 :481-485,2017
A Case of Therapy-Related Acute Leukemia With Mixed Phenotype With BCR-ABL1 After Treatment of Diffuse Large B-Cell Lymphoma
ANNALS OF LABORATORY MEDICINE 37/2 :166-168,2017
Detection of Immunoglobulin Heavy Chain Gene Clonality by Next-Generation Sequencing for Minimal Residual Disease Monitoring in B-Lymphoblastic Leukemia
ANNALS OF LABORATORY MEDICINE 37/4 :331-335,2017
Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results
ANNALS OF SURGICAL TREATMENT AND RESEARCH 92/5 :331-339,2017
Application of Multiplex Ligation-Dependent Probe Amplification Assay for Genotyping Major Blood Group Systems Including DEL Variants in the D-Negative Korean Population
ANNALS OF LABORATORY MEDICINE 38/1 :32-38,2018
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing
BMC MEDICAL GENOMICS 11/1 :6-,2018
Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy
EPILEPSY RESEARCH 141/ :48-55,2018
The efficacy of ketogenic diet for specific genetic mutation in developmental and epileptic encephalopathy
FRONTIERS IN NEUROLOGY 9/JUL :530-538,2018
A patient with B-cell acute lymphoblastic leukemia with PAX5-ETV6 rearrangement with dic(9;12)(p13;p13) identified by chromosomal microarray
ANNALS OF HEMATOLOGY 97/8 :1,505-1,507,2018
Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development
ANNALS OF LABORATORY MEDICINE 38/1 :77-79,2018
SNP-based next-generation sequencing reveals low-level mixed chimerism after allogeneic hematopoietic stem cell transplantation
ANNALS OF HEMATOLOGY 97/9 :1,731-1,734,2018
Early Diagnosis of KBG Syndrome Using Diagnostic Exome Sequencing
Journal of the Korean Child Neurology Society(대한소아신경학회지) 26/4 :272-275,2018
FLT3 Internal Tandem Duplication in Patients With Acute Myeloid Leukemia Is Readily Detectable in a Single Next-Generation Sequencing Assay Using the Pindel Algorithm
ANNALS OF LABORATORY MEDICINE 39/3 :327-329,2019
Clinical Evaluation of Massively Parallel RNA Sequencing for Detecting Recurrent Gene Fusions in Hematologic Malignancies
JOURNAL OF MOLECULAR DIAGNOSTICS 21/1 :163-170,2019
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency
SCIENTIFIC REPORTS 9/1 :4583-,2019
The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report
BMC MEDICAL GENETICS 20/1 :57-57,2019
Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms
PLOS ONE 14/3 :e0212228-,2019
Phenotypic and genotypic characterization of Acinetobacter spp. panel strains: A cornerstone to facilitate antimicrobial development
FRONTIERS IN MICROBIOLOGY 10/MAR :1-13,2019
Somatic mosaic truncating mutations of PPM1D in blood can result from expansion of a mutant clone under selective pressure of chemotherapy
PLOS ONE 14/6 :e0217521-,2019
Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis
BMC MEDICAL GENOMICS 12/1 :103-,2019
Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities
PEDIATRIC NEUROLOGY 99/ :47-54,2019
Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical Development
PEDIATRIC NEUROLOGY 99/ :47-54,2019
Genetic and clinical features of SCN8A developmental and epileptic encephalopathy
EPILEPSY RESEARCH 158/1 :e106222-,2019
YONSEI MEDICAL JOURNAL 41/ :136-139,2000
Tissue plasminogen activator and plasminogen activator inhibitor-1 in human choledochal bile
YONSEI MEDICAL JOURNAL 41/ :119-122,2000
A Case of del(13)(q22) with Multiple Major Congenital Anomalies, Imperforate Anus and Penoscrotal Transposition.
YONSEI MEDICAL JOURNAL 42/0 :558-562,2001
Presence of 844ins68 in the cystathionine beta-synthase gene in Asians (Koreans)
THROMBOSIS AND HAEMOSTASIS 86/ :1130-1130,2001
Homozygous VN (677C to T) and d/D (2756G to A) variants in the methylenetetrahydrofolate and methionine synthase genes in a case of hyperhomocysteinemia with stroke at young age.
EXPERIMENTAL AND MOLECULAR MEDICINE 33/2 :106-109,2001
A novel silent substitution (C8516T) in exon 9 of the human PROC gene
YONSEI MEDICAL JOURNAL 42/ :364-366,2001
Evaluation of HER2/neu status by real-time quantitative PCR in breast cancer
YONSEI MEDICAL JOURNAL 43/ :335-340,2002
Detection of an ala601Thr mutation of plasminogen gene in 3 out of 36 Korean patients with deep vein thrombosis
JOURNAL OF KOREAN MEDICAL SCIENCE 18/ :167-170,2003
Adoptive immunotherapy for Cytomegalovirus (CMV) disease in immunocompromised patients
YONSEI MEDICAL JOURNAL 45/ :18-22,2004
CMV 질환의 면역치료법 개발에 대한 최신지견
건국의과학학술지(The Konkuk Journal. Of Medical Sciences) 13/2 :-,2004
Rifampin 내성 결핵의 진단에서 INNO-LiPA 검사법의 임상적 의미
결핵 및 호흡기질환(Tuberculosis And Respiratory Diseases) 55/4 :-,2004
Epidemiological characteristics and molecular basis of fluoroquinolone-resistant Neisseria gonorrhoeae strains isolated in Korea and nearby countries
JOURNAL OF ANTIMICROBIAL CHEMOTHERAPY 54/ :451-455,2004
Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies
YONSEI MEDICAL JOURNAL 46/3 :347-352,2005
Homozygous type I protein C deficiency in neonatal purpura fulminans with a novel frame-shift deletion of 10 base pairs in exon 8 of PROC gene [4]
JOURNAL OF THROMBOSIS AND HAEMOSTASIS 3/ :593-595,2005
A novel fibrinogen variant (fibrinogen Seoul II; A alpha Gln328Pro) characterized by impaired fibrin alpha-chain cross-linking
BLOOD 108/6 :1919-1924,2006
Plasma factor XIII activity in patients with disseminated intravascular coagulation
YONSEI MEDICAL JOURNAL 47/2 :196-200,2006
GnRH (Gonadotropin-Releasing Hormone)에 의한 자궁내막암 유래 세포주의 세포 증식 억제 기전에 있어서 Integrin, FAK (FocalAdhesion Kinase) 및 ERK (Extracellular Signal Regulated Kinase)의 역할
대한불임학회지(Korean Journal Of Fertility And Sterility) 33/ :115-117,2006
Plasma level of IL-6 and its relationship to procoagulant and fibrinolytic markers in acute ischemic stroke
YONSEI MEDICAL JOURNAL 47/2 :201-206,2006
Clinical evaluation of micro-scale chip-based PCR system for rapid detection of hepatitis B virus
BIOSENSORS & BIOELECTRONICS 21/ :2161-2169,2006
Fibrinogen Seoul (FGG Ala341Asp): A novel mutation associated with hypodysfibrinogenemia
CLINICAL AND APPLIED THROMBOSIS-HEMOSTASIS 12/3 :338-343,2006
t(5;12)(q13;p13) in acute myeloid leukemia with preceding granulocytic sarcoma
CANCER GENETICS AND CYTOGENETICS 177/2 :158-160,2007
자동혈구분석기 Cell-Dyn Sapphire의 평가
대한진단검사의학회지(The Korean Journal of Laboratory Medicine) 27/3 :162-168,2007
한국 von Willebrand병 환자의 von Willebrand 인자 유전자 돌연변이 조사
대한진단검사의학회지(The Korean Journal of Laboratory Medicine) 27/3 :169-176,2007
A der(1;15)(q10;q10) is a rare nonrandom whole-arm translocation in patients with acute lymphoblastic leukemia
CANCER GENETICS AND CYTOGENETICS 179/2 :132-135,2007
Preceding orbital granulocytic sarcoma in an adult patient with acute myelogenous leukemia with t(8;21): a case study and review of the literature
Cancer Genetics And Cytogenetics 185/ :51-54,2008
A novel de novo mutation in the serine-threonine kinase STKII gene in a Korean patient with Peutz-Jeghers syndrome
Bmc Medical Genetics 9/ :-,2008
Complex t(8;1.9;21)(q22;p13;q22) as a sole abnormality in a patient with de novo acute myeloid leukemia
Cancer Genetics And Cytogenetics 185/ :109-112,2008
Acute erythroleukemia with der(1;7)(q10;p10) as a sole acquired abnormality after treatment with azathioprine
Cancer Genetics And Cytogenetics 186/ :58-60,2008
Linear Relationship between ADAMTS13 Activity and Platelet Dynamics Even Before Severe Thrombocytopenia
Annals Of Clinical And Laboratory Science 38/ :368-375,2008
Rare translocations involving chromosome band 8p11 in myeloid neoplasms
Cancer Genetics And Cytogenetics 186/ :127-129,2008
Trisomy 8 in an elderly patient with acute lymphoblastic leukemia as a sole abnormality
Cancer Genetics And Cytogenetics 187/ :57-58,2008
듀센형근이영양증 유전자의 결실 돌연변이 검출을 위한 Dual Priming Oligonucleotide 다중 PCR법의 평가
Korean Journal Of Laboratory Medicine 28/5 :386-391,2008
Acute promyelocytic leukemia relapsing as secondary acute myelogenous leukemia with translocation t(3;21)(q26;q22) and RUNX1-MDS1-EVI1 fusion transcript
Cancer Genetics And Cytogenetics 187/2 :61-73,2008
A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer
Cancer Genetics And Cytogenetics 182/2 :136-139,2008
Becker muscular dystrophy with r(X) carrying an out-of-frame DMD deletion
Pediatric Neurology 39/2 :129-132,2008
8번 염색체 사체성을 보인 급성단구성백혈병 1예
Korean Journal Of Laboratory Medicine 28/4 :262-266,2008
Paracentric inversion-associated t(8;21) variant in de novo acute myelogenous leukemia: characteristic patterns of conventional cytogenetics, FISH, and multicolor banding analysis
Cancer Genetics And Cytogenetics 183/1 :72-76,2008
8p11 myeloproliferative syndrome preceded by t(8;9)(p11;q33), CEP110/FGFR1 fusion transcript: morphologic, molecular, and cytogenetic characterization of myeloid neoplasms associated with eosinophilia and FGFR1 abnormality
Cancer Genetics And Cytogenetics 181/ :93-99,2008
MLL rearrangement with t(6;11)(q15;q23) as a sole abnormality in a patient with de novo acute myeloid leukemia: conventional cytogenetics, FISH, and multicolor FISH analyses for detection of rare MLL-related chromosome abnormalities
Cancer Genetics And Cytogenetics 187/ :50-53,2008
Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer
Cancer Genetics and Cytogenetics 188/ :61-64,2009
Acute promyelocytic leukemia with insertion of PML exon 7a and partial deletion of exon 3 of RARA: a novel variant transcript related to aggressive course and not detected with real-time polymerase chain reaction analysis
Cancer Genetics and Cytogenetics 188/ :103-107,2009
Biphenotypic acute leukemia with b2a2 fusion transcript and trisomy 21
Cancer Genetics and Cytogenetics 188/ :129-131,2009
Acute promyelocytic leukemia in early pregnancy with translocation t(15;17) and variant PML/RARA fusion transcripts
Cancer Genetics and Cytogenetics 188/ :48-51,2009
The Relationship Between COL3A1 Exon 31 Polymorphism and Pelvic Organ Prolapse
JOURNAL OF UROLOGY 181/ :1213-1216,2009
JAK2 V617F/C618R mutation in a patient with polycythemia vera: A case study and review of the literature
Cancer Genetics and Cytogenetics 189/ :43-47,2009
Hereditary protein S deficiency from a novel large deletion mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification (MLPA)
Thrombosis Research 123/5 :793-795,2009
A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family
Blood Coagulation & Fibrinolysis 20/ :150-156,2009
Therapy-Related Myelodysplastic Syndrome/Acute Myeloid Leukemia after Treatment with Temozolomide in a Patient with Glioblastoma Multiforme
Annals Of Clinical And Laboratory Science 39/4 :392-398,2009
Therapy-related acute lymphoblastic leukemia with t(9;22)(q34;q11.2): a case study and review of the literature
Cancer Genetics and Cytogenetics 191/ :51-54,2009
Concomitant Isochromosome 17q and Trisomy 14 in a Patient with Myelodysplastic Syndrome in Leukemic Transformation
Annals Of Clinical And Laboratory Science 39/2 :176-181,2009
A Novel PHEX Mutation in a Korean Patient with Sporadic Hypophosphatemic Rickets
Annals Of Clinical And Laboratory Science 39/2 :182-187,2009
The clopidogrel resistance can be attenuated with triple antiplatelet therapy in patients undergoing drug-eluting stents implantation
International Journal Of Cardiology 134/3 :351-355,2009
Two case reports of 1q triplication in myeloproliferative neoplasms
Cancer Genetics and Cytogenetics 191/2 :111-112,2009
Non-age related Y chromosome loss in an elderly patient with acute promyelocytic leukemia
Leukemia Research 33/ :e114-e115,2009
der(1)t(1;19)(p13;p13.1) in two elderly patients with myeloid neoplasms: New case reports and review of the literature
Leukemia Research 33/8 :128-131,2009
Concomitant t(3;3)(q21;q26), trisomy 19, and E255V mutation associated with imatinib mesylate resistance in chronic myelogenous leukemia
Cancer Genetics and Cytogenetics 190/ :46-48,2009
Detection of a novel CBFB/MYH11 variant fusion transcript (K-type) showing partial insertion of exon 6 of CBFB gene using two commercially available multiplex RT-PCR kits
Cancer Genetics and Cytogenetics 189/2 :87-92,2009
A tandem triplication, trp(1)(q21q32), in a patient with follicular lymphoma: a case study and review of the literature
Cancer Genetics and Cytogenetics 189/ :127-131,2009
BCR/ABL rearrangement with b3a3 fusion transcript in a case of childhood acute lymphoblastic leukemia
Cancer Genetics and Cytogenetics 189/ :132-137,2009
Changes in expression of fibulin-5 and lysyl oxidase-like 1 associated with pelvic organ prolapse
European Journal Of Obstetrics Gynecology And Reproductive Biology 145/ :117-122,2009
The First Korean Case of Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia) Confirmed by TGFB1 Gene Mutation Analysis
Journal Of Korean Medical Science 24/ :737-740,2009
Chronic Myelomonocytic Leukemia with der(9)t(1;9)(q11;q34) as a Sole Abnormality
Annals Of Clinical And Laboratory Science 39/3 :307-312,2009
Polymorphism of a COLIA1 Gene Sp1 Binding Site in Korean Women with Pelvic Organ Prolapse
Yonsei Medical Journal 50/4 :564-568,2009
Oxidative Status in Iron-Deficiency Anemia
Journal Of Clinical Laboratory Analysis 23/5 :319-323,2009
Detection of FUS-ERG chimeric transcript in two cases of acute myeloid leukemia with t(16;21)(p11.2;q22) with unusual characteristics
Cancer Genetics and Cytogenetics 194/2 :111-118,2009
De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence
Korean Journal of Pediatrics 52/5 :603-606,2009
The Role of BRAFV600E Mutation and Ultrasonography for the Surgical Management of a Thyroid Nodule Suspicious for Papillary Thyroid Carcinoma on Cytology
Annals Of Surgical Oncology 16/11 :3125-3131,2009
CASP8AP2 is a novel partner gene of MLL rearrangement with t(6;11)(q15;q23) in acute myeloid leukemia
Cancer Genetics and Cytogenetics 195/1 :94-95,2009
Therapy-related myelodysplastic syndrome with der(17)t(12;17)(q13;p13) as a new recurrent cytogenetic abnormality after treatment for chronic lymphocytic leukemia
Leukemia Research 33/7 :1001-1004,2009
A novel three-way t(7;21;8)(q11.2;q22;q22) in a patient with acute myeloid leukemia
Cancer Genetics and Cytogenetics 195/ :195-197,2009
Association of BRAFV600E mutation with poor clinical prognostic factors and US features in korean patients with papillary thyroid microcarcinoma
Radiology 253/3 :854-860,2009
AML1-ETO 양성인 양표현형 급성 백혈병의 1예
대한내과학회지 76/5 :617-621,2009
Association between acute promyelocytic leukemia and ring chromosome 6
Cancer Genetics and Cytogenetics 192/1 :48-50,2009
Comparisons of Three Automated Systems for Genomic DNA Extraction in a Clinical Diagnostic Laboratory
YONSEI MEDICAL JOURNAL 51/1 :104-110,2010
Three-way translocation involving MLL, MLLT1, and a novel third partner, NRXN1, in a patient with acute lymphoblastic leukemia and t(2;19;11) (p12;p13.3;q23)
Cancer Genetics and Cytogenetics 197/1 :32-38,2010
Dual priming oligonucleotide-based multiplex PCR analysis for detection of BRAFV600E mutation in FNAB samples of thyroid nodules in BRAF V600E mutation-prevalent area
HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK 32/4 :490-498,2010
A novel t(1;12)(q21;q24) in a patient with myelodysplastic syndrome
Annals of Hematology 89/ :513-516,2010
Short Report: Automated Detection of Malaria-Associated Pseudoeosinophilia and Abnormal WBC Scattergram by the Sysmex XE-2100 Hematology Analyzer: A Clinical Study with 1,801 Patients and Real-Time Quantitative PCR Analysis in Vivax Malaria-Endemic
American Journal of Tropical Medicine and Hygiene 82/3 :412-414,2010
Analysis of fluorescence in situ hybridization, mtDNA quantification, and mtDNA sequence for the detection of early bladder cancer
Cancer Genetics and Cytogenetics 198/2 :107-117,2010
Detection of t(3;5) and NPM1/MLF1 rearrangement in an elderly patient with acute myeloid leukemia: clinical and laboratory study with review of the literature
Cancer Genetics and Cytogenetics 199/ :101-109,2010
Two childhood cases of acute leukemia with t(16;21)(p11.2;q22): second case report of infantile acute lymphoblastic leukemia with unusual type of FUS-ERG chimeric transcript
Cancer Genetics and Cytogenetics 200/2 :180-183,2010
An SRY-Deleted XXY Female Resulting from a Paternally Inherited t(Y;22)
Annals of Clinical and Laboratory Science 40/3 :295-299,2010
Identification of Adenovirus, Influenza Virus, Parainfluenza Virus, and Respiratory Syncytial Virus by Two Kinds of Multiplex Polymerase Chain Reaction (PCR) and a Shell Vial Culture in Pediatric Patients with Viral Pneumonia
YONSEI MEDICAL JOURNAL 51/5 :761-767,2010
Molecular characterization of alternative SET-NUP214 fusion transcripts in a case of acute undifferentiated leukemia
Cancer Genetics and Cytogenetics 201/2 :73-80,2010
Prognostic significance of trisomy 6 in an adult acute myeloid leukemia with t(8;21)
Cancer Genetics and Cytogenetics 202/2 :141-143,2010
Constitutional pericentric inversion 9 and hematological disorders: a Korean tertiary institution's experience over eight years
Annals of Clinical and Laboratory Science 40/3 :273-277,2010
Constitutional Pericentric Inversion 9 in Korean Patients with Chronic Myelogenous Leukemia
KOREAN JOURNAL OF LABORATORY MEDICINE 30/3 :218-223,2010
Ambras syndrome in a Korean patient with balanced pericentric inversion (8)(p11.2q24.2)
Journal of Dermatological Science 59/3 :204-206,2010
A Case of Pseudoisodicentric Chromosome 18q Detected at Prenatal Diagnosis
KOREAN JOURNAL OF LABORATORY MEDICINE 30/4 :440-443,2010
Leukemic transformation associated with massive hyperdiploidy in myelodysplastic syndrome (MDS) with der(1;7)(q10;p10): A novel case study
Leukemia Research 34/8 :E208-E209,2010
Association between Survivor Motor Neuron 2 (SMN2) Gene Homozygous Deletion and Sporadic Lower Motor Neuron Disease in a Korean Population
Annals of Clinical and Laboratory Science 40/4 :368-374,2010
Diagnostic Value of BRAF(V600E) Mutation Analysis of Thyroid Nodules According to Ultrasonographic Features and the Time of Aspiration
ANNALS OF SURGICAL ONCOLOGY 18/ :792-799,2011
Alteration of Elastin Metabolism in Women With Pelvic Organ Prolapse
JOURNAL OF UROLOGY 185/5 :1786-1792,2011
A Novel PTEN Mutation in a Korean Patient with Cowden Syndrome and Vascular Anomalies
ACTA DERMATO-VENEREOLOGICA 91/1 :88-90,2011
Acute Promyelocytic Leukemia With Complex Translocation t(5;17;15)(q35;q21;q22): Case Report and Review of the Literature
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY 33/7 :326-329,2011
Case Report: A Heparin Binding Site Arg79Cys Missense Mutation in the SERPINC1 Gene in a Korean Patient with Hereditary Antithrombin Deficiency
ANNALS OF CLINICAL AND LABORATORY SCIENCE 41/1 :89-92,2011
Letter to the Editor: Diagnostic Standardization of Leukemia Fusion Gene Detection System using Multiplex Reverse Transcriptase-polymerase Chain Reaction in Korea
JOURNAL OF KOREAN MEDICAL SCIENCE 26/10 :1399-1400,2011
Rapid Identification of Thrombocytopenia-Associated Multiple Organ Failure Using Red Blood Cell Parameters and a Volume/Hemoglobin Concentration Cytogram
YONSEI MEDICAL JOURNAL 52/5 :845-850,2011
Case Report: A Novel Mutation in the MECP2 Gene in a Korean Patient with Rett Syndrome
ANNALS OF CLINICAL AND LABORATORY SCIENCE 41/1 :93-96,2011
Acute Promyelocytic Leukemia with Trisomy 8 and del(9)(q22) after Treatment of Cervical Cancer with Concurrent Chemoradiotherapy: A Case Report
ONKOLOGIE 34/7 :388-390,2011
Pharmacokinetic Comparison of Sustained- and Immediate-Release Oral Formulations of Cilostazol in Healthy Korean Subjects: A Randomized, Open-Label, 3-Part, Sequential, 2-Period, Crossover, Single-Dose, Food-Effect, and Multiple-Dose Study
CLINICAL THERAPEUTICS 33/12 :2038-2053,2011
Osteolytic mandible presenting as an initial manifestation of an adult acute lymphoblastic leukaemia
INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY 40/12 :1438-1440,2011
DELTA NEUTROPHIL INDEX: A PROMISING DIAGNOSTIC AND PROGNOSTIC MARKER FOR SEPSIS
SHOCK 37/ :242-246,2012
Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect
CLINICAL GENETICS 82/2 :180-186,2012
CD5-negative Blastoid Variant Mantle Cell Lymphoma with Complex CCND1/IGH and MYC Aberrations
ANNALS OF LABORATORY MEDICINE 32/1 :95-98,2012
정상 산모들과 임신중독증 산모들의 혈청 중 네프린 발현 빈도의 차이: 예비결과 보고
Korean Journal of Obstetrics and Gynecology 55/08 :546-551,2012
BRAFV600E mutation testing in fine needle aspirates of thyroid nodules: Potential value of real-time PCR
ANNALS OF CLINICAL AND LABORATORY SCIENCE 42/3 :258-265,2012
Fibrinogen residue gamma Ala341 is necessary for calcium binding and 'A-a' interactions
THROMBOSIS AND HAEMOSTASIS 107/5 :875-883,2012
A novel three-way variant t(4;17;5)(p16;q23;q31) in a case of secondary plasma cell leukemia
LEUKEMIA RESEARCH 36/5 :101-102,2012
Submicroscopic Deletion of FGFR1 Gene Is Recurrently Detected in Myeloid and Lymphoid Neoplasms Associated with ZMYM2-FGFR1 Rearrangements: A Case Study
ACTA HAEMATOLOGICA 127/2 :119-123,2012
Comparison Study of the Rates of Manual Peripheral Blood Smear Review From 3 Automated Hematology Analyzers, Unicel DxH 800, ADVIA 2120i, and XE 2100, Using International Consensus Group Guidelines
ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE 136/11 :1408-1413,2012
Detection of SET-NUP214 rearrangement using multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) in acute leukemias: a case report and literature review on a Korean case series
ANNALS OF HEMATOLOGY 91/7 :1135-1138,2012
A Gly1609Arg Missense Mutation in the vWF Gene in a Korean Patient with von Willebrand Disease Type 2A
ANNALS OF CLINICAL AND LABORATORY SCIENCE 42/1 :98-102,2012
Proper Indication of BRAFV600E Mutation Testing in Fine-Needle Aspirates of Thyroid Nodules
PLOS ONE 8/5 :e64505-e64505,2013
Application of BRAF, NRAS, KRAS mutations as markers for the detection of papillary thyroid cancer from FNAB specimens by pyrosequencing analysis
CLINICAL CHEMISTRY AND LABORATORY MEDICINE 51/8 :1673-1680,2013
Study of peripheral BRAFV600E mutation as a possible novel marker for papillary thyroid carcinomas
HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK 35/11 :1630-1633,2013
A novel F11 mutation in a Korean pediatric patient with recurrent epistaxis
BLOOD COAGULATION & FIBRINOLYSIS 24/ :433-435,2013
The MLL recombinome of acute leukemias in 2013
LEUKEMIA 27/11 :2165-2176,2013
A Comparative Study of the Diagnostic Performance of the GENEDIA Avellino Corneal Dystrophy Mutation Detection Kit and Screening Master Mix and a Direct Sequencing Method to Detect Mutations in the TGFB1 Gene
Journal of Laboratory Medicine and Quality Assurance 35/- :115-121,2013
Cys482Trp Missense Mutation in the Coagulation Factor XI Gene (F11) in a Korean Patient with Factor XI Deficiency
ANNALS OF LABORATORY MEDICINE 34/4 :332-335,2014
Bone marrow hypoplasia, isochromosome 8q and deletion of chromosome 6q preceding B-cell lymphoma
Blood Research 49/3 :200-203,2014
Complete genome sequence of the bacteriophage YMC/09/04/R1988 MRSA BP: A lytic phage from a methicillin-resistant Staphylococcus aureus isolate
FEMS MICROBIOLOGY LETTERS 359/2 :144-146,2014
MicroRNA-30d and microRNA-181a regulate HOXA11 expression in the uterosacral ligaments and are overexpressed in pelvic organ prolapse
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE 19/2 :501-509,2015
Clinical Implication of Highly Sensitive Detection of the BRAFV600E Mutation in Fine-Needle Aspirations According to the Thyroid Bethesda System in Patients With Conventional Papillary Thyroid Carcinoma
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY 124/5 :392-399,2015
Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement
JOURNAL OF MEDICAL GENETICS 52/10 :706-709,2015
Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder.
ANNALS OF LABORATORY MEDICINE 35/5 :510-518,2015
NOTCH2 missplicing can occur in relation to apoptosis
BLOOD 126/14 :1731-1732,2015
천식 치료 중 우연히 발견된 Birt-Hogg-Dube 증후군 1예
Allergy Asthma & Respiratory Disease 3/3 :232-235,2015
Isodicentric Chromosome 15 Syndrome in a Korean Patient With Caf?-au-lait Spots
ANNALS OF LABORATORY MEDICINE 35/4 :474-476,2015
Survey of Clinical Laboratory Practices for 2015 Middle East Respiratory Syndrome Coronavirus Outbreak in the Republic of Korea
ANNALS OF LABORATORY MEDICINE 36/2 :154-161,2016
Bone Marrow Chimerism Detection Using Next Generation Sequencing Based on Single Nucleotide Polymorphisms Following Liver Transplantation: Comparison With Short Tandem Repeat-PCR
ANNALS OF LABORATORY MEDICINE 36/1 :82-84,2016
A multicenter phase II study of sorafenib in combination with erlotinib in patients with advanced non-small cell lung cancer (KCSG-0806)
LUNG CANCER 93/0 :1-8,2016
Minor BCR-ABL1-Positive Acute Myeloid Leukemia Associated With the NPM1 Mutation and FLT3 Internal Tandem Duplication
ANNALS OF LABORATORY MEDICINE 36/3 :263-265,2016
Development and comparison of warfarin dosing algorithms for stroke patients
YONSEI MEDICAL JOURNAL 57/3 :635-640,2016
Guidelines for the Laboratory Diagnosis of Middle East Respiratory Syndrome Coronavirus in Korea
Infection and Chemotherapy 48/1 :61-69,2016
Korean Society for Laboratory Medicine Practice Guidelines for the Molecular Diagnosis of Middle East Respiratory Syndrome During an Outbreak in Korea in 2015
ANNALS OF LABORATORY MEDICINE 36/3 :203-208,2016
Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia
ANNALS OF LABORATORY MEDICINE 36/5 :475-480,2016
Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variants
BREAST CANCER RESEARCH AND TREATMENT 158/3 :433-440,2016
t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia
ANNALS OF LABORATORY MEDICINE 36/4 :396-398,2016
Chronic Myeloid Leukemia With Rare Variant b2a3 (e13a3) BCR-ABL1 Fusion
ANNALS OF LABORATORY MEDICINE 36/3 :287-289,2016
Concomitant AID Expression and BCL7A Loss Associates With Accelerated Phase Progression and Imatinib Resistance in Chronic Myeloid Leukemia
ANNALS OF LABORATORY MEDICINE 37/2 :177-179,2017
Identification of cell morphology parameters from automatic hematology analyzers to predict peripheral blood CD34 positive cell count after mobilization
PLOS ONE 12/3 :174,286-,2017
Panel strain of Klebsiella pneumoniae for beta-lactam antibiotic evaluation: their phenotypic and genotypic characterization
PeerJ 5/ :e2896-,2017
First report of blaOXA-499 as a carbapenemase 1 gene from Acinetobacter pittii
ANTIMICROBIAL AGENTS AND CHEMOTHERAPY 61/5 :e02676-16-,2017
Validation and Optimization of the Ion Torrent S5 XL Sequencer and Oncomine Workflow for BRCA1 and BRCA2 Genetic Testing
ONCOTARGET 8/21 :34,858-34,866,2017
A novel association between relaxin receptor polymorphism and hematopoietic stem cell yield after mobilization
PLOS ONE 12/6 :e0179986-,2017
Telomere length in alcohol dependence: A role for impulsive choice and childhood maltreatment
PSYCHONEUROENDOCRINOLOGY 83/ :72-78,2017
The effect of trauma and PTSD on telomere length: An exploratory study in people exposed to combat trauma
SCIENTIFIC REPORTS 7/1 :4375-,2017
Effects of Neutralization by Soluble ABH Antigens Produced by Transplanted Kidneys From ABO-Incompatible Secretor Donors
ANNALS OF LABORATORY MEDICINE 37/3 :254-260,2017
Molecular epidemiology and resistome analysis of multidrug-resistant ST11 Klebsiella pneumoniae strain containing multiple copies of extended-spectrum β-lactamase genes using whole-genome sequencing
NEW MICROBIOLOGICA 40/1 :38-44,2017
Whole genome and transcriptome analysis reveal MALDI-TOF MS and SDS-PAGE have limited performance for the detection of the key outer membrane protein in carbapenem-resistant Klebsiella pneumoniae isolates
ONCOTARGET 8/49 :84,818-84,826,2017
Quinidine Trial in a Patient with Epilepsy of Infancy with Migrating Focal Seizure and KCNT1 Mutation
Journal of the Korean Child Neurology Society(대한소아신경학회지) 25/3 :169-173,2017
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis
MOLECULAR VISION 23/ :649-659,2017
Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome
JAMA OPHTHALMOLOGY 135/12 :1376-1385,2017
Mowat-Wilson syndrome presenting with fever-associated seizures.
EPILEPTIC DISORDERS 19/4 :481-485,2017
A Case of Therapy-Related Acute Leukemia With Mixed Phenotype With BCR-ABL1 After Treatment of Diffuse Large B-Cell Lymphoma
ANNALS OF LABORATORY MEDICINE 37/2 :166-168,2017
Detection of Immunoglobulin Heavy Chain Gene Clonality by Next-Generation Sequencing for Minimal Residual Disease Monitoring in B-Lymphoblastic Leukemia
ANNALS OF LABORATORY MEDICINE 37/4 :331-335,2017
Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results
ANNALS OF SURGICAL TREATMENT AND RESEARCH 92/5 :331-339,2017
Application of Multiplex Ligation-Dependent Probe Amplification Assay for Genotyping Major Blood Group Systems Including DEL Variants in the D-Negative Korean Population
ANNALS OF LABORATORY MEDICINE 38/1 :32-38,2018
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing
BMC MEDICAL GENOMICS 11/1 :6-,2018
Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy
EPILEPSY RESEARCH 141/ :48-55,2018
The efficacy of ketogenic diet for specific genetic mutation in developmental and epileptic encephalopathy
FRONTIERS IN NEUROLOGY 9/JUL :530-538,2018
A patient with B-cell acute lymphoblastic leukemia with PAX5-ETV6 rearrangement with dic(9;12)(p13;p13) identified by chromosomal microarray
ANNALS OF HEMATOLOGY 97/8 :1,505-1,507,2018
Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development
ANNALS OF LABORATORY MEDICINE 38/1 :77-79,2018
SNP-based next-generation sequencing reveals low-level mixed chimerism after allogeneic hematopoietic stem cell transplantation
ANNALS OF HEMATOLOGY 97/9 :1,731-1,734,2018
Early Diagnosis of KBG Syndrome Using Diagnostic Exome Sequencing
Journal of the Korean Child Neurology Society(대한소아신경학회지) 26/4 :272-275,2018
FLT3 Internal Tandem Duplication in Patients With Acute Myeloid Leukemia Is Readily Detectable in a Single Next-Generation Sequencing Assay Using the Pindel Algorithm
ANNALS OF LABORATORY MEDICINE 39/3 :327-329,2019
Clinical Evaluation of Massively Parallel RNA Sequencing for Detecting Recurrent Gene Fusions in Hematologic Malignancies
JOURNAL OF MOLECULAR DIAGNOSTICS 21/1 :163-170,2019
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency
SCIENTIFIC REPORTS 9/1 :4583-,2019
The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report
BMC MEDICAL GENETICS 20/1 :57-57,2019
Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms
PLOS ONE 14/3 :e0212228-,2019
Phenotypic and genotypic characterization of Acinetobacter spp. panel strains: A cornerstone to facilitate antimicrobial development
FRONTIERS IN MICROBIOLOGY 10/MAR :1-13,2019
Somatic mosaic truncating mutations of PPM1D in blood can result from expansion of a mutant clone under selective pressure of chemotherapy
PLOS ONE 14/6 :e0217521-,2019
Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis
BMC MEDICAL GENOMICS 12/1 :103-,2019
Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities
PEDIATRIC NEUROLOGY 99/ :47-54,2019
Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical Development
PEDIATRIC NEUROLOGY 99/ :47-54,2019
Genetic and clinical features of SCN8A developmental and epileptic encephalopathy
EPILEPSY RESEARCH 158/1 :e106222-,2019
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