DIAGNOSTICS 2021 10.3390/diagnostics11061022

Analytical Validation of a Pan-Cancer Panel for Cell-Free Assay for the Detection of EGFR Mutations

So¹, MK; Park, JH; Kim, JW; Jang, JH

CANCERS 2021 10.3390/cancers13092192

A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study

Park¹, KS; Lee, W; Seong, MW; Kong, SY; Lee, KA; Ha, JS; Cho, EH; Han, SH; Park, I; Kim, JW

TRANSL PSYCHIATRY 2021 10.1038/s41398-021-01412-9

Novel Alzheimer's disease risk variants identified based on whole-genome sequencing of APOE epsilon 4 carriers

Park¹, JH; Park, I; Youm, EM; Lee, S; Park, JH; Lee, J; Lee, DY; Byun, MS; Lee, JH; Yi, D; Chung, SJ; Park, KW; Choi, N; Kim, SY; Yoon, W; An, H; Kim, KW; Choi, SH; Jeong, JH; Kim, EJ; Kang, H; Lee, J; Kim, Y; Lee, EA; Seo, SW; Na, DL; Kim, JW

SCI REP-UK 2021 10.1038/s41598-021-83887-6

Whole-genome sequencing reveals KRTAP1-1 as a novel genetic variant associated with antidepressant treatment outcomes

Park¹, JH; Lim, SW; Myung, W; Park, I; Jang, HJ; Kim, S; Lee, MS; Chang, HS; Yum, D; Suh, YL; Kim, JW; Kim, DK

DIAGNOSTICS 2021 10.3390/diagnostics11020370

Local Laboratory Testing of Germline BRCA Mutations vs. Myriad: A Single-Institution Experience in Korea

Hong¹, J; Lee, J; Kwon, M; Kim, JY; Kim, JW; Ahn, JS; Im, YH; Park, YH

SCI REP-UK 2020 10.1038/s41598-020-69603-w

Distribution and clinical impact of apolipoprotein E4 in subjective memory impairment and early mild cognitive impairment

Cho¹, H; Kim, YE; Chae, W; Kim, KW; Kim, JW; Kim, HJ; Na, DL; Ki, CS; Seo, SW

CLIN CHEM 2020 10.1093/clinchem/hvaa088

Quantitative and Qualitative QC of Next-Generation Sequencing for Detecting Somatic Variants: An Example of Detecting Clonal Hematopoiesis of Indeterminate Potential

Min¹, YK; Lee, YK; Nam, SH; Kim, JK; Park, KS; Kim, JW

PATHOL RES PRACT 2020 10.1016/j.prp.2020.152941

CDH1 mutations in gastric cancers are not associated with family history

Choi¹, S; Jang, J; Heo, YJ; Kang, SY; Kim, ST; Lee, J; Kang, WK; Kim, JW; Kim, KM

ANN LAB MED 2020 10.3343/alm.2020.40.3.232

Genetic Counseling Status and Perspectives Based on a 2018 Professional Survey in Korea

Kim¹, J; Kong, SY; Han, SH; Kim, JW; Jeon, CH; Yoo, J

ANN LAB MED 2019 10.3343/alm.2019.39.6.515

Korean Society for Genetic Diagnostics Guidelines for Validation of Next Generation Sequencing-Based Somatic Variant Detection in Hematologic Malignancies

Kim¹, H; Yun, JW; Lee, ST; Kim, HJ; Kim, SH; Kim, JW

J CLIN LAB ANAL 2019 10.1002/jcla.23064

Next-generation sequencing reveals unique combination of mutations in cis of CSF3R in atypical chronic myeloid leukemia

Yun¹, JW; Yoon, J; Jung, CW; Lee, KO; Kim, JW; Kim, SH; Kim, HJ

THYROID 2019 10.1089/thy.2019.0261

Multifocality in a Patient with Cribriform-Morular Variant of Papillary Thyroid Carcinoma Is an Important Clue for the Diagnosis of Familial Adenomatous Polyposis

Park¹, J; Kim, JW; Park, H; Park, SY; Kim, TH; Kim, SW; Oh, YL; Chung, JH

J AFFECT DISORDERS 2019 10.1016/j.jad.2019.04.011

Heritability estimates of individual psychological distress symptoms from genetic variation

Kim¹, S; Jang, HJ; Myung, W; Kim, K; Cha, S; Lee, H; Cho, SK; Kim, B; Ha, TH; Kim, JW; Kim, DK; Stahl, EA; Won, HH

PLoS One 2019 10.1371/journal.pone.0218968

Evidence that 6q25.1 variant rs6931104 confers susceptibility to chronic myeloid leukemia through RMND1 regulation

Woo¹, YM; Kim, S; Park, JH; Lee, NY; Kim, JW; Kim, DDH

LEUKEMIA 2019 10.1038/s41375-018-0321-8

HMGCLL1 is a predictive biomarker for deep molecular response to imatinib therapy in chronic myeloid leukemia

Park¹, JH; Woo, YM; Youm, EM; Hamad, N; Won, HH; Naka, K; Park, EJ; Park, JH; Kim, HJ; Kim, SH; Kim, HJ; Ahn, JS; Sohn, SK; Moon, JH; Jung, CW; Park, S; Lipton, JH; Kimura, S; Kim, JW; Kim, D

MOL GENET GENOM MED 2019 10.1002/mgg3.620

A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm

Park¹, JE; Park, S; Jang, SY; Park, SH; Kim, JW; Ki, CS; Kim, DK

BREAST CANCER RES TR 2019 10.1007/s10549-018-5015-4

Prevalence and oncologic outcomes of BRCA 1/2 mutations in unselected triple-negative breast cancer patients in Korea

Ryu¹, JM; Choi, HJ; Kim, I; Nam, SJ; Kim, SW; Yu, J; Lee, SK; Choi, DH; Park, YH; Kim, JW; Seo, JS; Park, JH; Lee, JE; Kim, SW

ANN LAB MED 2019 10.3343/alm.2019.39.1.109

A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis

Lee¹, ES; Jang, MA; Kim, HD; Park, JE; Kim, JW; Ohn, YH

BMC BIOINFORMATICS 2018 10.1186/s12859-018-2409-6

DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data

Kang¹, Y; Nam, SH; Park, KS; Kim, Y; Kim, JW; Lee, E; Ko, JM; Lee, KA; Park, I

EUR J HAEMATOL 2018 10.1111/ejh.13076

A novel type of+2-base pair frameshift CALR mutation in a patient with myeloproliferative neoplasm

Kim¹, HY; Kim, JW; Kim, SH; Chang, MH; Kim, HJ

MENOPAUSE 2018 10.1097/GME.0000000000001140

Menopausal hormone therapy and mild cognitive impairment: a randomized, placebo-controlled trial

Yoon¹, BK; Chin, J; Kim, JW; Shin, MH; Ahn, S; Lee, DY; Seo, SW; Na, DL

YONSEI MED J 2018 10.3349/ymj.2018.59.5.652

A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases

Ko¹, JM; Park, KS; Kang, Y; Nam, SH; Kim, Y; Park, I; Chae, HW; Lee, SM; Lee, KA; Kim, JW

ANN LAB MED 2018 10.3343/alm.2018.38.4.291

Principles of Genetic Counseling in the Era of Next-Generation Sequencing

Yang¹, M; Kim, JW

ANN LAB MED 2017 10.3343/alm.2017.37.6.540

Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis

Yoo¹, IY; Song, JS; Ki, CS; Kim, JW; Cha, HS; Min, YK

ANN LAB MED 2017 10.3343/alm.2017.37.6.494

Performance Evaluation of the PowerChek MERS (upE & ORF1a) Real-Time PCR Kit for the Detection of Middle East Respiratory Syndrome Coronavirus

Huh¹, HJ; Kim, JY; Kwon, HJ; Yun, SA; Lee, MK; Ki, CS; Lee, NY; Kim, JW

J PEDIATR ENDOCR MET 2017 10.1515/jpem-2017-0158

Reassessing the significance of the PAH c.158G > A (p.Arg53His) variant in patients with hyperphenylalaninemia

Choi¹, R; Lee, J; Park, HD; Park, JE; Kim, YH; Ki, CS; Lee, SY; Song, J; Kim, JW; Lee, DH

ANN LAB MED 2017 10.3343/alm.2017.37.5.462

Complete STK11 Deletion and Atypical Symptoms in Peutz-Jeghers Syndrome

Jang¹, MS; Lee, YM; Ko, BM; Kang, G; Kim, JW; Hong, YH

JAMA Oncol. 2017 May 1;3(5):636-651. doi: 10.1001/jamaoncol.2016.5945.

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases A Mendelian Randomization Study

Kim JW116¹, Cox DG117, Delattre O118, Mirabeau O118, Skibola CF119, Tang CS120, Garcia-Barcelo M120, Chang KP121, Su WH122, Chang YS123, Martin NG14, Gordon S14, Wade TD124, Lee C125, Kubo M126, Cha PC127, Nakamura Y128, Levy D129, Kimura M6

Ann Lab Med. 2017 May;37(3):261-266. doi: 10.3343/alm.2017.37.3.261.

Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease lb

Choi R1¹, Park HD2, Ko JM3, Lee J4, Lee DH4, Hong SJ5, Ki CS1, Lee SY1, Kim JW1, Song J6, Choe YH7.

Ann Lab Med. 2017 Mar;37(2):147-150. doi: 10.3343/alm.2017.37.2.147.

Performance of the Real-Q EBV Quantification Kit for Epstein-Barr Virus DNA Quantification in Whole Blood

Huh HJ1¹, Park JE1, Kim JY2, Yun SA2, Lee MK1, Lee NY1, Kim JW1, Ki CS3.

J Clin Microbiol. 2017 Feb;55(2):479-484. doi: 10.1128/JCM.02045-16. Epub 2016 Nov 30.

Performance Evaluation of Allplex Respiratory Panels 1, 2, and 3 for Detection of Respiratory Viruses and Influenza A Virus Subtypes

Huh HJ1¹, Kim JY2, Kwon HJ2, Yun SA2, Lee MK1, Lee NY1, Kim JW1, Ki CS3.

Ann Lab Med. 2017 Jan;37(1):81-83. doi: 10.3343/alm.2017.37.1.81.

Importance of Specimen Type and Quality in Diagnosing Middle East Respiratory Syndrome

Huh HJ1¹, Ko JH2, Kim YE1, Park CH1, Hong G1, Choi R1, Yu S1, Cho SY2,3, Kang JM4, Lee MK1, Ki CS5, Kang ES1, Lee NY1, Kim JW1, Kim YJ3,4, Ha YE2, Kang CI2, Chung DR2, Peck KR2, Song JH2.

ANNALS OF LABORATORY MEDICINE, JAN 2017, 37(1):58-62, DOI: 10.3343/alm.2017.37.1.58

Novel Pathogenic Variant (c.580C>7) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing

Choi R¹, Park HD, Yang M, Ki CS, Lee SY, Kim JW, Song J, Chang YS, Park WS

Ann Lab Med. 2016 May;36(3):259-62. doi: 10.3343/alm.2016.36.3.259.

The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene

Park KJ1¹, Park JH1, Park JH2, Cho EB3, Kim BJ4, Kim JW1,5.

Ann Lab Med. 2016 Mar;36(2):145-53. doi: 10.3343/alm.2016.36.2.145.

DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population

Park KJ1¹, Park HK2, Kim YJ2, Lee KR2, Park JH1, Park JH3, Park HD4, Lee SY4, Kim JW1,5.

Genet Med. 2016 Dec;18(12):1250-1257. doi: 10.1038/gim.2016.39. Epub 2016 Apr 28.

Comparative analysis of BRCA1 and BRCA2 variants of uncertain significance in patients with breast cancer: a multifactorial probability-based model versus ACMG standards and guidelines for interpreting sequence variants

Park KS1¹, Cho EY2, Nam SJ3, Ki CS4, Kim JW4.

JOURNAL OF CLINICAL VIROLOGY, DEC 2016, 85:27-30, DOI: 10.1016/j.jcv.2016.10.014

Analytical and clinical evaluation of the Abbott Real Time hepatitis B sequencing assay

Huh HJ¹, Kim JY, Lee MK, Lee NY, Kim JW, Ki CS

J Clin Lab Anal. 2016 Nov;30(6):1061-1070. doi: 10.1002/jcla.21981. Epub 2016 May 2.

Genetic Characteristics of Polycythemia Vera and Essential Thrombocythemia in Korean Patients

Yoo EH1¹, Park KJ2,3, Won HH2,3, Park JH2,3, Park JH2,3, Lee ST4, Kim HJ4, Bang SM5, Chi HS6, Jung CW7, Kim SH4, Yun H8, Sun CH8, Park I8, Lee S8, Lee C9, Merriman B9, Luo R10, Tan EH10, Park KJ11, Yoo NK11, Kang JJ9, Kim JW12.

Psychiatry Investig. 2016 Nov;13(6):630-636. Epub 2016 Nov 24.

Linkage and Association Analyses of Schizophrenia with Genetic Variations on Chromosome 22q11 in Koreans

Yoon SC1¹, Jang YL2, Kim JW3, Cho EY4, Park DY5, Hong KS1, Lee YS6.

Ann Lab Med. 2016 Nov;36(6):561-72. doi: 10.3343/alm.2016.36.6.561.

A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening

Park KJ1¹, Park S2, Lee E2, Park JH1, Park JH3, Park HD4, Lee SY4, Kim JW1,5.

Ann Lab Med. 2016 Nov;36(6):603-6. doi: 10.3343/alm.2016.36.6.603.

Performance Evaluation of the Real-Q Cytomegalovirus (CMV) Quantification Kit Using Two Real-Time PCR Systems for Quantifying CMV DNA in Whole Blood

Park JE1¹, Kim JY2, Yun SA2, Lee MK1, Huh HJ3, Kim JW1, Ki CS4.

Ann Lab Med. 2016 Sep;36(5):469-74. doi: 10.3343/alm.2016.36.5.469.

Adeno-Associated Virus 2-Mediated Hepatocellular Carcinoma is Very Rare in Korean Patients

Park KJ1¹, Lee J2, Park JH2, Joh JW3, Kwon CH3, Kim JW1,4.

Ann Lab Med. 2016 Sep;36(5):463-8. doi: 10.3343/alm.2016.36.5.463.

Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome

Park KJ1¹, Choi HJ2, Suh SP2, Ki CS3, Kim JW1,4.

J Hum Genet. 2016 Aug;61(8):705-9. doi: 10.1038/jhg.2016.33. Epub 2016 Apr 14.

Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1

Jang MA1¹, Kim YE2, Kim SK3, Lee MK3, Kim JW3, Ki CS3.

J Clin Pathol. 2016 Aug;69(8):737-41. doi: 10.1136/jclinpath-2016-203649. Epub 2016 May 19.

High frequency of JAK2 exon 12 mutations in Korean patients with polycythaemia vera: novel mutations and clinical significance

Park CH1¹, Lee KO2, Jang JH3, Jung CW3, Kim JW1, Kim SH1, Kim HJ1.

Oncotarget. 2016 Aug 23;7(34):54825-54837. doi: 10.18632/oncotarget.10240.

Mutation profiling of 19 candidate genes in acute myeloid leukemia suggests significance of DNMT3A mutations

Shin SY1¹, Lee ST2, Kim HJ3, Cho EH4, Kim JW3, Park S5, Jung CW5, Kim SH3.

Cancer Med. 2016 May;5(5):769-77. doi: 10.1002/cam4.636. Epub 2016 Jan 18.

Triage of patients with AUS/FLUS on thyroid cytopathology: effectiveness of the multimodal diagnostic techniques

Kim TH1¹, Jeong DJ1, Hahn SY2, Shin JH2, Oh YL3, Ki CS4, Kim JW4, Jang JY1, Cho YY1, Chung JH1, Kim SW1.

BMC Med Genet. 2016 Apr 21;17:33. doi: 10.1186/s12881-016-0295-1.

PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations

Choi R1¹, Park HD2, Kang B3, Choi SY3, Ki CS1, Lee SY1, Kim JW1, Song J4, Choe YH5.

J Clin Lab Anal. 2015 Sep;29(5):361-5. doi: 10.1002/jcla.21779. Epub 2014 Nov 10.

Mutant Enrichment with 3 '-Modified Oligonucleotides (MEMO)-Quantitative PCR for Detection of NPM1 Mutations in Acute Myeloid Leukemia

Shin SY1¹, Ki CS1, Kim HJ1, Kim JW1, Kim SH1, Lee ST1.

Transl Psychiatry. 2015 Sep 8;5:e633. doi: 10.1038/tp.2015.127.

A genome-wide association study of antidepressant response in Koreans

Myung W1¹,2, Kim J3, Lim SW2,3, Shim S3, Won HH3, Kim S4, Kim S1,2, Lee MS5, Chang HS6, Kim JW2,7, Carroll BJ8, Kim DK9,2.

BMC Med Inform Decis Mak. 2015;15 Suppl 1:S1. doi: 10.1186/1472-6947-15-S1-S1. Epub 2015 May 20.

Inference of brain pathway activities for Alzheimer's disease classification

Lee J¹, Kim Y, Jeong Y, Na DL, Kim JW, Lee KH, Lee D.

Inflamm Bowel Dis. 2015 Dec;21(12):2897-908. doi: 10.1097/MIB.0000000000000570.

Impact of Genetic Polymorphisms on 6-Thioguanine Nucleotide Levels and Toxicity in Pediatric Patients with IBD Treated with Azathioprine

Lee MN1¹, Kang B, Choi SY, Kim MJ, Woo SY, Kim JW, Choe YH, Lee SY.

Ann Lab Med. 2015 Nov;35(6):578-85. doi: 10.3343/alm.2015.35.6.578.

Dried Blood Spot Testing for Seven Steroids Using Liquid Chromatography-Tandem Mass Spectrometry With Reference Interval Determination in the Korean Population

Kim B1¹, Lee MN1, Park HD1, Kim JW1, Chang YS2, Park WS2, Lee SY3.

J Virol Methods. 2015 Nov;224:42-6. doi: 10.1016/j.jviromet.2015.08.003. Epub 2015 Aug 13.

Comparison of the AdvanSure (TM) real-time RT-PCR and Seeplex (R) RV12 ACE assay for the detection of respiratory viruses

Jung YJ1¹, Kwon HJ2, Huh HJ3, Ki CS4, Lee NY1, Kim JW1.

Ann Lab Med. 2015 Nov;35(6):624-9. doi: 10.3343/alm.2015.35.6.624.

Evaluation of the Anyplex BRAF V600E Real-Time Detection Assay Using Dual-Priming Oligonucleotide Technology in Fine-Needle Aspirates of Thyroid Nodules

Choi R1¹, Park KS1, Kim JW1, Ki CS2.

Ann Lab Med. 2015 Jan;35(1):41-9. doi: 10.3343/alm.2015.35.1.41. Epub 2014 Dec 8.

A Simple and Rapid Method Based on Liquid Chromatography-Tandem Mass Spectrometry for the Measurement of alpha-L-Iduronidase Activity in Dried Blood Spots: An Application to Mucopolysaccharidosis I (Hurler) Screening

Yang JS1¹, Min HK1, Oh HJ2, Woo HI3, Lee SY4, Kim JW3, Song J5, Park HD3.

Ann Lab Med. 2015 Jan;35(1):76-81. doi: 10.3343/alm.2015.35.1.76. Epub 2014 Dec 8.

Evaluation of the iNtRON VRE vanA/vanB Real-Time PCR Assay for Detection of Vancomycin-Resistant Enterococci

Huh HJ1¹, Jang MA1, Seo JY2, Kim JY3, Ki CS1, Kim JW1, Lee NY1.

Int J Cardiol. 2015 Sep 1;194:21-2. doi: 10.1016/j.ijcard.2015.05.037. Epub 2015 May 9.

Clinical severity of viral myocarditis is not associated with a mutation of dystrophin gene cleavage sites

Lee M1¹, Choi JO2, Yun SH2, Ju ES2, Lee YJ2, Kim JW3, Lim BK4, Jeon ES5.

Ann Lab Med. 2015 Sep;35(5):535-9. doi: 10.3343/alm.2015.35.5.535.

CYP21A2 Mutation Analysis in Korean Patients With Congenital Adrenal Hyperplasia Using Complementary Methods: Sequencing After Long-Range PCR and Restriction Fragment Length Polymorphism Analysis With Multiple Ligation-Dependent Probe Amplification Assay

Hong G1¹, Park HD2, Choi R1, Jin DK3, Kim JH4, Ki CS1, Lee SY1, Song J5, Kim JW1.

Neurobiol Aging. 2015 Aug;36(8):2443.e1-7. doi: 10.1016/j.neurobiolaging.2015.04.009. Epub 2015 Apr 25.

NOTCH3 variants in patients with subcortical vascular cognitive impairment: a comparison with typical CADASIL patients

Yoon CW1¹, Kim YE2, Seo SW3, Ki CS4, Choi SH1, Kim JW2, Na DL5.

Yonsei Med J. 2015 Jul;56(4):993-7. doi: 10.3349/ymj.2015.56.4.993.

Clinical Characteristics and Genotype-Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy

Song JS1¹, Kim KA2, Min JH3, Ki CS4, Kim JW1, Sung DH5, Kim BJ6.

J Mol Diagn. 2015 Jul;17(4):431-7. doi: 10.1016/j.jmoldx.2015.03.006. Epub 2015 Apr 30.

Evaluation of the Real-Q BRAF V600E Detection Assay in Fine-Needle Aspiration Samples of Thyroid Nodules

Park KS1¹, Oh YL2, Ki CS3, Kim JW1.

Inflamm Bowel Dis. 2015 May;21(5):1054-62. doi: 10.1097/MIB.0000000000000347.

Relationship Between Azathioprine Dosage, 6-Thioguanine Nucleotide Levels, and Therapeutic Response in Pediatric Patients with IBD Treated with Azathioprine

Lee MN1¹, Kang B, Choi SY, Kim MJ, Woo SY, Kim JW, Choe YH, Lee SY.

No items found.

A NEW GERMLINE ALA641THR VARIANT IN THE TRANSMEMBRANE DOMAIN OF THE RET GENE ASSOCIATED WITH MEDULLARY THYROID CANCER

Clin Chim Acta. 2015 Apr 15;444:50-3. doi: 10.1016/j.cca.2015.02.008. Epub 2015 Feb 11.

Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: A congenital disorder of glycosylation mimicking glycogen storage disease

Choi R1¹, Woo HI2, Choe BH3, Park S4, Yoon Y4, Ki CS1, Lee SY1, Kim JW1, Song J5, Kim DS6, Kwon S6, Park HD7.

Int J Cancer. 2015 Apr 1;136(7):1568-78. doi: 10.1002/ijc.29133. Epub 2014 Aug 22.

Lynch-like syndrome: Characterization and comparison with EPCAM deletion carriers

Kang SY1¹, Park CK, Chang DK, Kim JW, Son HJ, Cho YB, Yun SH, Kim HC, Kwon M, Kim KM.

Ann Lab Med. 2015 Mar;35(2):257-9. doi: 10.3343/alm.2015.35.2.257. Epub 2015 Feb 12.

BRAF V600E and MAP2K1 Mutations in Hairy Cell Leukemia and Splenic Marginal Zone Lymphoma Cases

Shin SY1¹, Lee ST1, Kim HJ1, Ki CS1, Jung CW2, Kim JW1, Kim SH1.

Pharmacogenet Genomics. 2015 Mar;25(3):143-6. doi: 10.1097/FPC.0000000000000117.

Complete sequence-based screening of TPMT variants in the Korean population

Kim HY1¹, Lee SH, Lee MN, Kim JW, Kim YH, Kim MJ, Lee YM, Kang B, Choe YH, Lee NH, Kim DH, Yoo KH, Sung KW, Lee SY, Koo HH.

Am J Hum Genet. 2015 Feb 5;96(2):266-74. doi: 10.1016/j.ajhg.2014.11.019. Epub 2015 Jan 22.

Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome

Jang MA1¹, Kim EK2, Now H3, Nguyen NT3, Kim WJ3, Yoo JY3, Lee J4, Jeong YM5, Kim CH5, Kim OH6, Sohn S7, Nam SH8, Hong Y8, Lee YS8, Chang SA2, Jang SY2, Kim JW1, Lee MS9, Lim SY10, Sung KS11, Park KT12, Kim BJ13, Lee JH14, Kim DK2, Kee C15, Ki CS16.

Clin Genet. 2015 Feb;87(2):196-8. doi: 10.1111/cge.12350. Epub 2014 Feb 21.

A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum

Yun JW1¹, Jo KI, Woo HI, Lee SY, Ki CS, Kim JW, Song J, Lee DH, Lee YW, Park HD.

BMC Med Genet. 2014 Aug 15;15:94. doi: 10.1186/s12881-014-0094-5.

Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity

Choi R¹, Jo KI, Ko DH, Lee DH, Song J, Jin DK, Ki CS, Lee SY, Kim JW, Lee YW1, Park HD.

Diagn Microbiol Infect Dis. 2014 Aug;79(4):419-21. doi: 10.1016/j.diagmicrobio.2014.01.025. Epub 2014 Feb 20.

Comparison of the Anyplex (TM) II RV16 and Seeplex (R) RV12 ACE assays for the detection of respiratory viruses

Huh HJ1¹, Park KS1, Kim JY2, Kwon HJ2, Kim JW1, Ki CS3, Lee NY1.

Ann Clin Lab Sci. 2014 Summer;44(3):317-23.

Two Novel FAH Gene Mutations in a Patient with Hereditary Tyrosinemia Type I

Choi HJ1¹, Bang HI2, Ki CS1, Lee SY1, Kim JW1, Song J3, Shin MR4, Lee YW5, Lee DH6, Park HD7.

Clin Chem Lab Med. 2014 Jul;52(7):e139-42. doi: 10.1515/cclm-2013-1007.

Evaluation of mutation profiling by matrix-assisted laser desorption ionization time-of-flight (MALDI-TOF) mass spectrometry in fine needle aspirations from papillary thyroid cancer

Woo HI¹, Kim SW, Ki CS, Shin JH, Oh YL, Kim JW, Chung JH.

J Med Virol. 2014 Jun;86(6):957-62. doi: 10.1002/jmv.23920. Epub 2014 Mar 7.

Incidence and Clinical Features of Herpes Simplex Viruses ( 1 and 2) and Varicella-Zoster Virus Infections in an Adult Korean Population With Aseptic Meningitis or Encephalitis

Choi R1¹, Kim GM, Jo IJ, Sim MS, Song KJ, Kim BJ, Na DL, Huh HJ, Kim JW, Ki CS, Lee NY.

Am J Surg Pathol. 2014 Jun;38(6):784-92. doi: 10.1097/PAS.0000000000000185.

Pyloric Gland Adenoma in Lynch Syndrome

Lee SE1¹, Kang SY, Cho J, Lee B, Chang DK, Woo H, Kim JW, Park HY, Do IG, Kim YE, Kushima R, Lauwers GY, Park CK, Kim KM.

Clin Genet. 2014 May;85(5):441-5. doi: 10.1111/cge.12195. Epub 2013 Jun 13.

Frequency of FMR1 premutation carriers and rate of expansion to full mutation in a retrospective diagnostic FMR1 Korean sample

Jang JH1¹, Lee K, Cho EH, Lee EH, Kim JW, Ki CS.

Neurobiol Aging. 2014 Mar;35(3):726.e1-6. doi: 10.1016/j.neurobiolaging.2013.09.004. Epub 2013 Oct 16.

Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Kim YE1¹, Yoon CW, Seo SW, Ki CS, Kim YB, Kim JW, Bang OY, Lee KH, Kim GM, Chung CS, Na DL.

Haematologica. 2014 Mar;99(3):561-9. doi: 10.3324/haematol.2013.092023. Epub 2013 Oct 25.

Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population

Kim HJ1¹, Seo JY, Lee KO, Bang SH, Lee ST, Ki CS, Kim JW, Jung CW, Kim DK, Kim SH.

Clin Chim Acta. 2014 Nov 1;437:101-2. doi: 10.1016/j.cca.2014.07.011. Epub 2014 Jul 15.

Safe azathioprine treatment in a pediatric ulcerative colitis patient with TPMT*16 by thiopurine metabolite monitoring

Kim HY1¹, Kim JW1, Kim MJ2, Lee YM2, Kang B2, Choe YH3, Lee SY4.

Clin Genet. 2014 Oct;86(4):398-9. doi: 10.1111/cge.12310. Epub 2013 Nov 26.

Frequency of DMPK mutation carriers in Korean women of childbearing age

Jang JH1¹, Lee JW, Cho EH, Lee EH, Kim JW, Ki CS.

J Perinat Med. 2014 Jan;42(1):121-7. doi: 10.1515/jpm-2013-0154.

Steroid profiling for congenital adrenal hyperplasia by tandem mass spectrometry as a second-tier test reduces follow-up burdens in a tertiary care hospital: A retrospective and prospective evaluation

Seo JY¹, Park HD, Kim JW, Oh HJ, Yang JS, Chang YS, Park WS, Lee SY.

Ann Neurol. 2014 Sep;76(3):379-92. doi: 10.1002/ana.24219. Epub 2014 Jul 29.

PLXNA4 Is Associated with Alzheimer Disease and Modulates Tau Phosphorylation

Jun G1¹, Asai H, Zeldich E, Drapeau E, Chen C, Chung J, Park JH, Kim S, Haroutunian V, Foroud T, Kuwano R, Haines JL, Pericak-Vance MA, Schellenberg GD, Lunetta KL, Kim JW, Buxbaum JD, Mayeux R, Ikezu T, Abraham CR, Farrer LA.

PLoS One. 2014 Sep 16;9(9):e107098. doi: 10.1371/journal.pone.0107098. eCollection 2014.

Genetic Prediction of Antidepressant Drug Response and Nonresponse in Korean Patients

Lim SW1¹, Won HH1, Kim H2, Myung W2, Kim S3, Kim KK4, Carroll BJ5, Kim JW4, Kim DK2.

Ann Lab Med. 2014 Sep;34(5):386-9. doi: 10.3343/alm.2014.34.5.386. Epub 2014 Aug 21.

Presymptomatic Identification of CDH1 Germline Mutation in a Healthy Korean Individual with Family History of Gastric Cancer

Choi HJ1¹, Ki CS2, Suh SP1, Kim JW2.

Gene. 2014 Aug 10;546(2):421-4. doi: 10.1016/j.gene.2014.06.027. Epub 2014 Jun 14.

Challenges in assessing pathogenicity based on frequency of variants in mismatch repair genes: an extreme case of a MSH2 variant and a meta-analysis

Woo HI1¹, Woo YM2, Kim S3, Lee ST4, Ki CS4, Kim JW5.

Tumour Biol. 2014 Apr;35(4):3765-70. doi: 10.1007/s13277-013-1498-0. Epub 2013 Dec 11.

Differential association of RANTES-403 and IL-1B-1464 polymorphisms on histological subtypes in male Korean patients with gastric cancer

Kim J1¹, Kim JW, Kim Y, Lee KA.

Mol Cell Proteomics. 2014 Feb;13(2):407-19. doi: 10.1074/mcp.M113.028639. Epub 2013 Dec 8.

Both Targeted Mass Spectrometry and Flow Sorting Analysis Methods Detected the Decreased Serum Apolipoprotein E Level in Alzheimer's Disease Patients

Han SH1¹, Kim JS, Lee Y, Choi H, Kim JW, Na DL, Yang EG, Yu MH, Hwang D, Lee C, Mook-Jung I.

Clin Chim Acta. 2014 Jan 20;428:72-6.

Clinical application of catalytically cleavable fluorescence probe technology for multiplexing quantification of BCR-ABL1 fusion transcripts

Park KJ¹, Woo YM, Kim K, Lee ST, Ki CS, Kim HJ, Kim SH, Kim JW.

PLoS One. 2013 Nov 18;8(11):e79063. doi: 10.1371/journal.pone.0079063. eCollection 2013.

SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel POU4F3 Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15)

Kim HJ1¹, Won HH, Park KJ, Hong SH, Ki CS, Cho SS, Venselaar H, Vriend G, Kim JW.

Gut Liver. 2013 Nov;7(6):747-51. doi: 10.5009/gnl.2013.7.6.747. Epub 2013 Nov 11.

A Novel Germline Mutation in Exon 10 of the SMAD4 Gene in a Familial Juvenile Polyposis

Jee MJ1¹, Yoon SM, Kim EJ, Choi HJ, Kim JW, Sung RH, Han JH, Chae HB, Park SM, Youn SJ.

PLoS One. 2013;8(4):e58618. doi: 10.1371/journal.pone.0058618. Epub 2013 Apr 2.

SORL1 Is Genetically Associated with Late-Onset Alzheimer's Disease in Japanese, Koreans and Caucasians

Miyashita A¹, Koike A, Jun G, Wang LS, Takahashi S, Matsubara E, Kawarabayashi T, Shoji M, Tomita N, Arai H, Asada T, Harigaya Y, Ikeda M, Amari M, Hanyu H, Higuchi S, Ikeuchi T, Nishizawa M, Suga M, Kawase Y, Akatsu H, Kosaka K, Yamamoto T, Imagawa M, Hamaguchi T, Yamada M, Morihara T, Takeda M, Takao T, Nakata K, Fujisawa Y, Sasaki K, Watanabe K, Nakashima K, Urakami K, Ooya T, Takahashi M, Yuzuriha T, Serikawa K, Yoshimoto S, Nakagawa R, Kim JW, Ki CS, Won HH, Na DL, Seo SW, Mook-Jung I; Alzheimer Disease Genetics Consortium, St George-Hyslop P, Mayeux R, Haines JL, Pericak-Vance MA, Yoshida M, Nishida N, Tokunaga K, Yamamoto K, Tsuji S, Kanazawa I, Ihara Y, Schellenberg GD, Farrer LA, Kuwano R.

Hum Genet. 2013 Jan;132(1):15-27. doi: 10.1007/s00439-012-1218-7. Epub 2012 Aug 21.

A Bayesian ensemble approach with a disease gene network predicts damaging effects of missense variants of human cancers

Won HH1¹, Kim JW, Lee D.

Exp Diabetes Res. 2012;2012:827172. doi: 10.1155/2012/827172. Epub 2012 Oct 23.

Genetic Variation in CYP17A1 Is Associated with Arterial Stiffness in Diabetic Subjects

Yang SJ1¹, Lee ST, Kim WJ, Park SE, Park SW, Kim JW, Park CY.

J Clin Endocrinol Metab. 2012 Jul;97(7):2299-306. doi: 10.1210/jc.2011-3135. Epub 2012 Apr 12.

Clinical Implication of Highly Sensitive Detection of the BRAF V600E Mutation in Fine-Needle Aspirations of Thyroid Nodules: A Comparative Analysis of Three Molecular Assays in 4585 Consecutive Cases in a BRAF V600E Mutation-Prevalent Area

Lee ST1¹, Kim SW, Ki CS, Jang JH, Shin JH, Oh YL, Kim JW, Chung JH.

Ann Lab Med. 2012 May;32(3):238-41. doi: 10.3343/alm.2012.32.3.238. Epub 2012 Apr 18.

Identification of a Rare 3 bp BRAF Gene Deletion in a Thyroid Nodule by Mutant Enrichment with 3'-Modified Oligonucleotides Polymerase Chain Reaction

Jang MA¹, Lee ST, Oh YL, Kim SW, Chung JH, Ki CS, Kim JW.

Leuk Res. 2012 Apr;36(4):418-21. doi: 10.1016/j.leukres.2011.12.021. Epub 2012 Feb 5.

Sequential array comparative genomic hybridization analysis identifies copy number changes during blastic transformation of chronic myeloid leukemia

Lee ST1¹, Ji Y, Kim HJ, Ki CS, Jung CW, Kim JW, Kim SH.

Hum Mutat. 2012 Apr;33(4):E2332-40. doi: 10.1002/humu.22039.

KMD: Korean mutation database for genes related to diseases

Park MH1¹, Koo SK, Lee JS, Yoo HW, Kim JW, Cheong HI, Park HY.

Hum Genet.?2012 Mar;131(3):365-72. doi: 10.1007/s00439-011-1080-z. Epub 2011 Aug 25.

The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations

Ahn MJ1¹,?Won HH,?Lee J,?Lee ST,?Sun JM,?Park YH,?Ahn JS,?Kwon OJ,?Kim H,?Shim YM,?Kim J,?Kim K,?Kim YH,?Park JY,?Kim JW,?Park K.

J Hum Genet. 2012 Mar;57(3):212-5. doi: 10.1038/jhg.2011.139. Epub 2012 Jan 5.

Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing

Jang JH1¹, Lee JE, Kwon MJ, Ki CS, Kim JW, Nam SJ, Yang JH.

BMB Rep. 2011 Nov;44(11):725-9.

Novel mechanism of a CDH1 splicing mutation in a Korean patient with signet ring cell carcinoma

Kim S1¹, Ki CS, Kim KM, Lee MG, Kim S, Bae JM, Kim JW.

Eur J Clin Pharmacol. 2011 Nov;67(11):1119-30. doi: 10.1007/s00228-011-1060-1. Epub 2011 May 18.

Evaluation of the effects of VKORC1 polymorphisms and haplotypes, CYP2C9 genotypes, and clinical factors on warfarin response in Sudanese patients

Shrif NE1¹, Won HH, Lee ST, Park JH, Kim KK, Kim MJ, Kim S, Lee SY, Ki CS, Osman IM, Rhman EA, Ali IA, Idris MN, Kim JW.

Int J Dermatol. 2011 Nov;50(11):1437-9. doi: 10.1111/j.1365-4632.2010.04549.x.

Identification of a novel mutation in the ectodysplasin A gene in a Korean family with X-linked hypohidrotic ectodermal dysplasia

Kim JH¹, Lim IS, Choi ES, Lee HI, Kim BJ, Kim MN, Lee ST, Kim HJ, Kim JW, Ki CS, Kim BJ.

Forensic Sci Int Genet. 2011 Nov;5(5):552-4. doi: 10.1016/j.fsigen.2010.06.001. Epub 2010 Jul 3.

Variant alleles detected in a large Korean population using AmpFlSTR Profiler Plus

Cho EH¹, Lee EH, Kim SH, Kim EY, Kim JW.

Hum Mutat. 2011 Jun;32(6):669-77. doi: 10.1002/humu.21488. Epub 2011 Apr 7.

A Complex Phenotype of Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss is Linked to an Autosomal Dominant Mutation in MYH14

Choi BO1¹, Kang SH, Hyun YS, Kanwal S, Park SW, Koo H, Kim SB, Choi YC, Yoo JH, Kim JW, Park KD, Choi KG, Kim SJ, Z?chner S, Chung KW.

J Alzheimers Dis. 2011;25(1):77-84. doi: 10.3233/JAD-2011-102145.

Human Serum Transthyretin Levels Correlate Inversely with Alzheimer's Disease

Han SH1¹, Jung ES, Sohn JH, Hong HJ, Hong HS, Kim JW, Na DL, Kim M, Kim H, Ha HJ, Kim YH, Huh N, Jung MW, Mook-Jung I.

Blood. 2011 Jun 23;117(25):6906-11. doi: 10.1182/blood-2011-01-329797. Epub 2011 May 3.

A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia

Kim DH1¹, Lee ST, Won HH, Kim S, Kim MJ, Kim HJ, Kim SH, Kim JW, Kim HJ, Kim YK, Sohn SK, Moon JH, Jung CW, Lipton JH.

Int J Nanomedicine. 2010 Dec 15;6:1-12. doi: 10.2147/IJN.S15278.

Effective screen for amyloid beta aggregation inhibitor using amyloid beta-conjugated gold nanoparticles

Han SH1¹, Chang YJ, Jung ES, Kim JW, Na DL, Mook-Jung I.

J Proteome Res. 2011 Mar 4;10(3):1383-95. doi: 10.1021/pr101154j. Epub 2011 Jan 25.

Identification and Validation of SAA as a Potential Lung Cancer Biomarker and its Involvement in Metastatic Pathogenesis of Lung Cancer

Sung HJ1¹, Ahn JM, Yoon YH, Rhim TY, Park CS, Park JY, Lee SY, Kim JW, Cho JY.

Ann Clin Lab Sci. 2011 Fall;41(1):48-55.

Comparison of HPV Genotyping Assays and Hybrid Capture 2 for Detection of High-Risk HPV in Cervical Specimens

Um TH1¹, Lee EH, Chi HS, Kim JW, Hong YJ, Cha YJ.

Ann Dermatol. 2010 Nov;22(4):452-5. doi: 10.5021/ad.2010.22.4.452. Epub 2010 Nov 5.

Multiple Endocrine Neoplasia Type 2B: Early Diagnosis by Multiple Mucosal Neuroma and Its DNA Analysis

Lee MJ1¹, Chung KH, Park JS, Chung H, Jang HC, Kim JW.

Hum Mol Genet. 2010 Sep 15;19(18):3672-8. doi: 10.1093/hmg/ddq281. Epub 2010 Jul 16.

Genome-wide association of serum bilirubin levels in Korean population

Kang TW1¹, Kim HJ, Ju H, Kim JH, Jeon YJ, Lee HC, Kim KK, Kim JW, Lee S, Kim JY, Kim SY, Kim YS.

Cytokine. 2010 Jul;51(1):73-7. doi: 10.1016/j.cyto.2010.03.007. Epub 2010 Apr 2.

Interleukin 10 polymorphisms differentially influence the risk of gastric cancer in East Asians and Caucasians

Won HH1¹, Kim JW, Kim MJ, Kim S, Park JH, Lee KA.

Korean J Lab Med. 2010 Jun;30(3):307-11. doi: 10.3343/kjlm.2010.30.3.307.

Clinical Characteristics and ALB Gene Mutation Analysis of Korean Patients with Bisalbuminemia

Kim YH1¹, Lee YW, Jeon BR, Lee YK, Shin HB, Kang DH, Park SK, Hong DS, Lee ST, Kim JW, Ki CS.

J Korean Med Sci. 2010 Jan;25(1):163-5. doi: 10.3346/jkms.2010.25.1.163. Epub 2009 Dec 29.

Novel CFTR Mutations in a Korean Infant with Cystic Fibrosis and Pancreatic Insufficiency

Choe YJ1¹, Ko JS, Seo JK, Han JJ, Shim JO, Koh YY, Lee R, Ki CS, Kim JW, Kim JH.

J Korean Med Sci. 2010 Jan;25(1):159-62. doi: 10.3346/jkms.2010.25.1.159. Epub 2009 Dec 26.

A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis

Ko JS1¹, Choi BS, Seo JK, Shin JY, Chae JH, Kang GH, Lee R, Ki CS, Kim JW.

IET Syst Biol. 2009 Nov;3(6):534-42. doi: 10.1049/iet-syb.2008.0183.

Pathway level analysis by augmenting activities of transcription factor target genes

Jung H1¹, Lee E, Kim JW, Lee D.

BMC Bioinformatics. 2009 Sep 17;10 Suppl 9:S2. doi: 10.1186/1471-2105-10-S9-S2.

Analysis of AML genes in dysregulated molecular networks

Lee E1¹, Jung H, Radivojac P, Kim JW, Lee D.

Genomics. 2009 Aug;94(2):89-93. doi: 10.1016/j.ygeno.2009.04.005. Epub 2009 Apr 24.

Comparison of identical single nucleotide polymorphisms genotyped by the GeneChip Targeted Genotyping 25K, Affymetrix 500K and Illumina 550K platforms

Kim KK1¹, Won HH, Cho SS, Park JH, Kim MJ, Kim S, Kim JW.

J Altern Complement Med. 2009 Jul;15(7):765-9. doi: 10.1089/acm.2009.0067.

A Genome-Wide Scan for the Sasang Constitution in a Korean Family Suggests Significant Linkage at Chromosomes 8q11.22-23 and 11q22.1-3

Won HH1¹, Lee S, Jang E, Kim KK, Park YK, Kim YJ, Kim YS, Kim BY, Kim JY, Kim JW.

Am J Med Genet B Neuropsychiatr Genet. 2009 Jul 5;150B(5):647-52. doi: 10.1002/ajmg.b.30884.

Genome-Widely Significant Evidence of Linkage of Schizophrenia to Chromosomes 2p24.3 and 6q27 in an SNP-Based analysis of Korean Families

Hong KS1¹, Won HH, Cho EY, Jeun HO, Cho SS, Lee YS, Park DY, Jang YL, Choi KS, Lee D, Kim MJ, Kim S, Han WS, Kim JW.

J Korean Med Sci. 2009 Feb;24(1):77-83. doi: 10.3346/jkms.2009.24.1.77. Epub 2009 Feb 28.

Improved Detection of Germline Mutations in Korean VHL Patients by Multiple Ligation-dependent Probe Amplification Analysis

Cho HJ1¹, Ki CS, Kim JW.

BMC Bioinformatics. 2009 Jan 30;10 Suppl 1:S53. doi: 10.1186/1471-2105-10-S1-S53.

Comparative analysis of the JAK/STAT signaling through erythropoietin receptor and thrombopoietin receptor using a systems approach

Won HH1¹, Park I, Lee E, Kim JW, Lee D.

Front Biosci (Landmark Ed). 2009 Jan 1;14:3879-83.

Identification of autoantibody against beta-amyloid peptide in the serum of elderly

Sohn JH1¹, So JO, Hong HJ, Kim JW, Na DR, Kim M, Kim H, Nam E, Ha HJ, Kim YH, Mook-Jung I.

PLoS Comput Biol. 2008 Nov;4(11):e1000217. doi: 10.1371/journal.pcbi.1000217. Epub 2008 Nov 7.

Inferring Pathway Activity toward Precise Disease Classification

Lee E1¹, Chuang HY, Kim JW, Ideker T, Lee D.

PLoS One. 2008;3(10):e3575. doi: 10.1371/journal.pone.0003575. Epub 2008 Oct 30.

Cataloging Coding Sequence Variations in Human Genome Databases

Won HH1¹, Kim HJ, Lee KA, Kim JW.

Genomics. 2008 Mar;91(3):259-66. doi: 10.1016/j.ygeno.2007.11.001.

EnsemPro: An ensemble approach to predicting transcription start sites in human genomic DNA sequences

Won HH1¹, Kim MJ, Kim S, Kim JW.

Cancer Sci. 2008 Feb;99(2):340-4. doi: 10.1111/j.1349-7006.2007.00693.x.

UGT1A7 haplotype is associated with an increased risk of hepatocellular carcinoma in hepatitis B carriers

Kong SY1¹, Ki CS, Yoo BC, Kim JW.

J Child Neurol. 2007 Nov;22(11):1297-300.

Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome

Jong Hee Chae1¹, Ki Joong Kim, Yong Seung Hwang, Ki CS, Kim JW.

Pharmacogenomics. 2007 Oct;8(10):1347-57.

Effectiveness of in silico tagSNP methods: virtual analysis of the pharmacogenetic genes

Nam MH1¹, Won HH, Lee KA, Kim JW.

Am J Hum Genet. 2007 Sep;81(3):552-8. Epub 2007 Jun 29.

Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (CMTX5)

Kim HJ1¹, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW.

Headache. 2007 Jul-Aug;47(7):1056-62.

Association between a polymorphism in the lymphotoxin_a promoter region and migraine

Lee KA1¹, Jang SY, Sohn KM, Won HH, Kim MJ, Kim JW, Chung CS.

J Korean Med Sci. 2007 Jun;22(3):557-9.

A case report of a patient carrying CYP2C9*3/4 genotype with extremely low warfarin dose requirement

Lee SY1¹, Nam MH, Kim JS, Kim JW.

J Korean Med Sci. 2007 Jun;22(3):425-30.

Distinct linkage disequilibrium (LD) runs of single nucleotide polymorphisms and microsatellite markers; Implications for use of mixed marker haplotypes in LD-based mapping

Lee KA1¹, Sohn KM, Cho SH, Hwang H, Kim SW, Won HH, Kim HJ, Kim MJ, Cho SS, Park JH, Kim JW.

J Biochem Mol Biol. 2007 May 31;40(3):448-52.

Contributions of CYP2C9/CYP2C19 genotypes and drug interaction to the phenytoin treatment in the Korean epileptic patients in the clinical setting

Lee SY1¹, Lee ST, Kim JW.

Cytokine. 2007 May;38(2):96-100. Epub 2007 Jun 26.

Interaction of polymorphisms in the Interleukin 1B-31 and general transcription factor 2A1 genes on the susceptibility to gastric cancer

Lee KA1¹, Park JH, Sohn TS, Kim S, Rhee JC, Kim JW.

Exp Mol Med. 2006 Dec 31;38(6):662-7.

Heterozygosities of 735 microsatellite markers and background linkage disequilibrium in the Korean population

Lee KA1¹, Kim JW.

J Korean Med Sci. 2006 Oct;21(5):954-7.

A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis

Lee JM1¹, Kim AS, Lee SJ, Cho SM, Lee DS, Choi SM, Kim DK, Ki CS, Kim JW.

Hum Psychopharmacol. 2006 Aug;21(6):409-12.

Pharmacokinetic parameters of bromperidol in Korean subjects

Lee SY1¹, Kim YG, Kim HG, Kim JW.

Cancer Genet Cytogenet. 2006 Aug;169(1):81-2.

PML/RARA rearrangement associated with a t(15;19;17) in a case of acute myeloid leukemia with abundant myelocytes with salmon-pink cytoplasm

Kim IS¹, Kim HJ, Choung HS, Jung CW, Kim JW, Kim SH.

J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Jul 24;839(1-2):124-9. Epub 2006 May 3.

Determination of iohexol clearance by high-performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS)

Lee SY1¹, Chun MR, Kim DJ, Kim JW.

Ther Drug Monit. 2006 Jun;28(3):382-7.

Sequence-based CYP2D6 genotyping in the Korean population

Lee SY1¹, Sohn KM, Ryu JY, Yoon YR, Shin JG, Kim JW.

Am J Med Genet B Neuropsychiatr Genet. 2006 Apr 5;141B(3):281-6.

Linkage and association of schizophrenia with genetic variations in the locus of neuregulin 1 in Korean population

Kim JW1¹, Lee YS, Cho EY, Jang YL, Park DY, Choi KS, Jeun HO, Cho SH, Jang SY, Hong KS.

Thyroid. 2006 Mar;16(3):237-41.

Lack of a genetic association between the CTLA-4 gene and Graves' disease in Koreans

Cho HJ1¹, Chung JH, Kim IS, Kim HJ, Cho SH, Ki CS, Kim JW.

Int J Cancer. 2005 Dec 20;117(6):957-60.

TP53BP2 locus is associated with gastric cancer susceptibility

Ju H1¹, Lee KA, Yang M, Kim HJ, Kang CP, Sohn TS, Rhee JC, Kang C, Kim JW.

J Korean Med Sci. 2005 Dec;20(6):1089-92.

GSTM1, GSTT1 and GSTP1 polymorphisms in the Korean population

Cho HJ1¹, Lee SY, Ki CS, Kim JW.

Yonsei Med J. 2005 Dec 31;46(6):843-6.

A case of intolerance to warfarin dosing in an intermediate metabolizer of CYP2C9

Lee SY1¹, Kim JS, Kim JW.

J Korean Med Sci. 2005 Jun;20(3):499-501.

A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b

Han SH1¹, Ki CS, Lee JE, Hong YJ, Son BK, Lee KH, Choe YH, Lee SY, Kim JW.

Neurology. 2005 Jun 14;64(11):1964-7.

A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24

Kim HJ1¹, Hong SH, Ki CS, Kim BJ, Shim JS, Cho SH, Park JH, Kim JW.

Genet Med. 2005 May-Jun;7(5):339-43.

Genotypic differences of MCAD deficiency in the Asian population: Novel genotype and clinical symptoms preceding newborn screening notification

Ensenauer R1¹, Winters JL, Parton PA, Kronn DF, Kim JW, Matern D, Rinaldo P, Hahn SH.

Clin Chim Acta. 2005 Apr;354(1-2):167-80.

Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report

Yoon HR1¹, Lee KR, Kang S, Lee DH, Yoo HW, Min WK, Cho DH, Shin SM, Kim J, Song J, Yoon HJ, Seo S, Hahn SH.

Exp Mol Med. 2005 Feb 28;37(1):11-7.

Genetic polymorphism of CYP17 and breast cancer risk in Korean women

Shin MH1¹, Lee KM, Yang JH, Nam SJ, Kim JW, Yoo KY, Park SK, Noh DY, Ahn SH, Kim B, Kang D.

Clin Chem. 2004 Nov;50(11):2193-5.

Evaluation of imprecision for analysis of short tandem repeats by use of mixed blood cells in variable concentrations

Kong SY1¹, Ki CS, Kim HJ, Lee KO, Bae JC, Kim SH, Kim JW.

J Korean Med Sci. 2004 Oct;19(5):750-2.

A case report of a poor metabolizer of CYP2D6 presented with unusual responses to nortriptyline medication

Lee SY1¹, Ki CS, Hong KS, Kim JW.

Mol Cells. 2004 Aug 31;18(1):63-70.

Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia

Kim JH1¹, Choi HK, Lee H, Park HY, Kim JH, Kim JW, Kim HJ, Lee ST.

No items found.

Inorganic-biomolecular hybrid nanomaterials as a genetic molecular code system

Clin Genet. 2004 Jun;65(6):487-9.

Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia

Ki CS1¹, Han SH, Kim HJ, Lee SG, Kim EJ, Kim JW, Choe YH, Seo JK, Chang YJ, Park JY.

J Gastroenterol. 2004;39(5):429-33.

Novel interleukin 1 beta polymorphism increased the risk of gastric cancer in a Korean population

Lee KA1¹, Ki CS, Kim HJ, Sohn KM, Kim JW, Kang WK, Rhee JC, Song SY, Sohn TS.

Neuromuscul Disord. 2004 May;14(5):325-8.

A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type IA with sensorineural deafness

Joo IS1¹, Ki CS, Joo SY, Huh K, Kim JW.

Clin Chem. 2003 Dec;49(12):2078-81.

Haplotype structure of the UDP-Glucuronosyltransferase 1A1 (UGT1A1) gene and its relationship to serum total bilirubin concentration in a male Korean population

Ki CS1¹, Lee KA, Lee SY, Kim HJ, Cho SS, Park JH, Cho S, Sohn KM, Kim JW.

J Gerontol A Biol Sci Med Sci. 2003 Mar;58(3):227-31.

Distributions of ACE and APOE polymorphisms and their relations with dementia status in Korean centenarians

Choi YH1¹, Kim JH, Kim DK, Kim JW, Kim DK, Lee MS, Kim CH, Park SC.

J Neurol Sci. 2003 Jan 15;206(1):31-7.

The apolipoprotein E epsilon 4 haplotype is an important predictor for recurrence in ischemic cerebrovascular disease

Kim JS1¹, Han SR, Chung SW, Kim BS, Lee KS, Kim YI, Yang DW, Kim KS, Kim JW.

J Hum Genet. 2003;48(1):51-4.

Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy

Ki CS1¹, Kong SY, Seo DW, Hong SB, Kim HJ, Kim JW.

Clin Chem. 2002 May;48(5):775-7.

Complete sequencing of a genetic polymorphism in NAT2 in the Korean population

Lee SY1¹, Lee KA, Ki CS, Kwon OJ, Kim HJ, Chung MP, Suh GY, Kim JW.

Neurosci Lett. 2002 Feb 15;319(2):75-8.

Genetic association of an apolipoprotein C-I (APOC1) gene polymorphism with late-onset Alzheimer's disease

Ki CS1¹, Na DL, Kim DK, Kim HJ, Kim JW.

Clin Chem Lab Med. 2002 Jul;40(7):689-92.

Frequencies of C28Y and H63D mutations and transferrin saturation indices in the Korean population

Choi SJ1¹, Min WK, Chun S, Park H, Kim JW, Park CJ, Chi HS.

J Hum Genet. 2002;47(9):473-7.

A novel missense mutation (I344K) in the SPG4 gene in a Korean family with autosomal-dominant hereditary spastic paraplegia

Ki CS1¹, Lee WY, Han DH, Sung DH, Lee KB, Lee KA, Cho SS, Cho S, Hwang H, Sohn KM, Choi YJ, Kim JW.

J Hum Genet. 2002;47(5):225-8.

Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B

Ki CS1¹, Hong JS, Jeong GY, Ahn KJ, Choi KM, Kim DK, Kim JW.

J Biomed Opt. 2002 Jan;7(1):45-50.

Noninvasive total hemoglobin measurement

Jeon KJ1¹, Kim SJ, Park KK, Kim JW, Yoon G.

Atherosclerosis. 2001 Dec;159(2):381-9.

Studies on the plasma lipid profiles, and LCAT and CETP activities according to hyperlipoproteinemia phenotypes (HLP)

Lee M1¹, Kim JQ, Kim J, Oh H, Park M.

Ann Neurol. 2001 Jun;49(6):817-8.

Lack of association of the interleukin-1 alpha gene polymorphism with Alzheimer's disease in a Korean population

Ki CS¹, Na DL, Kim DK, Kim HJ, Kim JW.

Neurosci Lett. 2001 Apr 20;302(2-3):69-72.

Alpha-1 antichymotrypsin and alpha-2 macroglobulin gene polymorphisms are not associated with Korean late-onset Alzheimer's disease

Ki CS1¹, Na DL, Kim HJ, Kim JW.

J Biomed Opt. 2001 Apr;6(2):177-82.

Data preprocessing and partial least squares regression analysis for reagentless determination of hemoglobin concentrations using conventional and total transmission spectroscopy

Kim YJ1¹, Kim S, Kim JW, Yoon G.

Ann Clin Biochem. 2001 Mar;38(Pt 2):129-34.

Apolipoprotein E polymorphism and serum lipoprotein(a) concentrations in a Korean male population

Chun S1¹, Min WK, Kim JW, Park H, Jang S, Yang SE, Kim JQ.

Antimicrob Agents Chemother. 2001 Feb;45(2):480-4.

Carbapenem resistance mechanisms in Pseudomonas aeruginosa clinical isolates

Pai H1¹, Kim J, Kim J, Lee JH, Choe KW, Gotoh N.

Neurosci Lett. 2000 Aug 11;289(3):230-4.

Effects of apolipoprotein E phenotypes on the neuropsychological functions of community-dwelling elderly individuals without dementia

Chey J1¹, Kim JW, Cho HY.

J Korean Med Sci. 2000 Feb;15(1):83-7.

NRAMP1 gene polymorphisms in patients with rheumatoid arthritis in Koreans

Yang YS1¹, Kim SJ, Kim JW, Koh EM.

J Clin Microbiol. 1999 Jun;37(6):1758-63.

Survey of extended-spectrum beta-lactamases in clinical isolates of Escherichia coli and Klebsiella pneumoniae: Prevalence of TEM-52 in Korea

Pai H1¹, Lyu S, Lee JH, Kim J, Kwon Y, Kim JW, Choe KW.

J Chem Inf Comput Sci. 1999 Jan-Feb;39(1):112-20.

Application of variable selection for prediction of target concentration

Hasegawa K1¹, Kimura T, Funatsu K.

Am J Med Genet. 1999 Apr 16;88(2):113-5.

No association between the genes for butyrylcholinesterase K variant and apolipoprotein E4 in late-onset Alzheimer's disease

Ki CS1¹, Na DL, Kim JW, Kim HJ, Kim DK, Yoon BK.