경희대학교 의과대학·의학전문대학원

- 1) Precision genomics
- 2) Medical genomics
- 3) Pharmacogenomcis

약물 유전체학, 단일세포 유전체학

1998.03 – 2002.02 연세대학교 이과대학, 생화학과 (학사)
2002.03 – 2008.02 연세대학교 의과대학, 약리학교실 (석사/박사)
2008.03 – 2009.02 연세대학교 의과대학, 약리학교실 (연구 강사)
2009.03 - 2011.02 하버드대학교 의과대학, 유전학교실 (박사 후 연구원)
2011.03 – 2014.02 연세대학교 의과대학 (연구조교수)
2014.03 – 2016.03 연세대학교 치과대학 (연구조교수, 전임대우)
2016.04 – 현재 경희대학교 의과대학, 임상약리학교실 조교수/부교수

- 미국 유전체 학회
- 한국 유전체 학회

79. Soyeong Jun, Hyeonseob Lim, Honggu Chun, Ji Hyun Lee$, Duhee Bang$. Single-cell analysis of a mutant library generated using CRISPR-guided deaminase in human melanoma cells. Commun Biol. 2020 Apr 2;3(1):154. $co-correspondence (IF: 4.165)

78. Munsu Park, Dongin Lee, Duhee Bang$, Ji Hyun Lee$. MAPS-seq: Magnetic Bead-Assisted Parallel Single-Cell Gene Expression Profiling. Exp Mol Med. 2020 May;52(5):804-814. $co-correspondence (IF: 5.418)

77. Sung-Jin Kim, Yong Taek Jeong, Se Rok Jeong, Munsu Park, Hye Sun Go, Mi Young Kim, Je Kyung Seong, Ki Woo Kim, Jeong Taeg Seo, Chul Hoon Kim, Ji Hyun Lee, Seok Jun Moon. Neural Regulation of Energy and Bone Homeostasis by the Synaptic Adhesion Molecule Calsyntenin-3. Exp Mol Med. 2020 May;52(5):793-803. (IF: 5.418)

76. Hyeonseob Lim, Soyeong Jun, Minjeong Park, Junghak Lim, Jaehwan Jeong, Ji Hyun Lee$, Duhee Bang$. Multiplex Generation, Tracking, and Functional Screening of Substitution Mutants Using a CRISPR/Retron System. ACS Synth Biol. 2020 May 15;9(5):1003-1009. $co-correspondence (IF: 4.441)

75. Jee Soo Park, Phillip M Pierorazio, Ji Hyun Lee, Hyo Jung Lee, Young Soun Lim, Won Sik Jang, Jongchan Kim, Seung Hwan Lee, Koon Ho Rha, Nam Hoon Cho, Won Sik Ham. Gene Expression Analysis of Aggressive Clinical T1 Stage Clear Cell Renal Cell Carcinoma for Identifying Potential Diagnostic and Prognostic Biomarkers. Cancers. 2020 Jan 16;12(1):222. (IF: 6.126)

74. Chan Joo Lee, Mun Su Park, Miso Kim, Soo-Jin Ann, Jaeho Lee, Sungha Park, Seok-Min Kang, Yangsoo Jang, Ji Hyun Lee$, Sang-Hak Lee$. CETP, LIPC, and SCARB1 Variants in Individuals With Extremely High High-Density Lipoprotein-Cholesterol Levels. Sci Rep. 2019 Jul 29;9(1):10915. $co-correspondence (IF: 4.122)

73. Dongju Shin, Wookjae Lee, Ji Hyun Lee$, Duhee Bang$. Multiplexed single-cell RNA-seq via transient barcoding for simultaneous expression profiling of various drug perturbations. Science Advances. 2019 May 15;5(5):eaav2249. $co-correspondence (IF: 13.116)

72. Park HJ, Hong JM, Lee JH, Shin HY, Kim SM, Park KD, Lee JH$, Choi YC$. Comparative transcriptome analysis of skeletal muscle in ADSSL1 myopathy. Neuromuscul Disord. 2019 Apr;29(4):274-281. $co-correspondence (IF: 2.487)

71. Lee J, Lim H, Jang H, Hwang B, Lee JH, Cho J, Lee JH$, Bang D$. CRISPR-Cap: multiplexed double-stranded DNA enrichment based on the CRISPR system. Nucleic Acids Res. 2019 Jan 10;47(1):e1. $co-correspondence (IF: 10.162)

70. Hwang B, Lee JH$, Bang D$. Single-cell RNA sequencing technologies and bioinformatics pipelines. Exp Mol Med. 2018 Aug 7;50(8):96. $co-correspondence (IF: 5.584)

69. Lee W, Lee JH, Jun S, Lee JH$, Bang D$. Selective targeting of KRAS oncogenic alleles by CRISPR/Cas9 inhibits proliferation of cancer cells. Sci Rep. 2018 Aug 8;8(1):11879. $co-correspondence (IF: 4.122)

68. Jun S, Lim H, Jang H, Lee W, Ahn J, Lee JH$, Bang D$. Straightforward Delivery of Linearized Double-Stranded DNA Encoding sgRNA and Donor DNA for the Generation of Single Nucleotide Variants Based on the CRISPR/Cas9 System. ACS Synth Biol. 2018 Jul 20;7(7):1651-1659. $co-correspondence (IF: 5.382)

67. Cho N, Ryu T, Seo HN, Kwon E, Huh S, Noh J, Yeom H, Ha H, Lee JH, Kwon S, Bang D. High-throughput construction of multiple Cas9 genes via assembly of high-depth tiled and sequence-verified oligonucleotides. Nucleic Acids Res. 2018 May 18;46(9):e55. (IF: 10.162)

66. Kim MN, Hong JY, Shim DH, Sol IS, Kim YS, Lee JH, Kim KW, Lee JM, Sohn MH. Activated Leukocyte Cell Adhesion Molecule Stimulates the T Cell Response in Allergic Asthma. Am J Respir Crit Care Med. 2018 Apr 15;197(8):994-1008. (IF: 13.204)

65. Lim H, Cho N, Ahn J, Park S, Jang H, Kim H, Han H, Lee JH$, Bang D$. Highly selective retrieval of accurate DNA utilizing a pool of in situ-replicated DNA from multiple next-generation sequencing platforms. Nucleic Acids Res. 2018 Apr 20;46(7):e40. $co-correspondence (IF: 10.162)

63. Park HJ, Lee W, Kim SH, Lee JH, Shin HY, Kim SM, Park KD, Lee JH, Choi YC. FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1. Yonsei Med J. 2018 Mar;59(2):337-340. (IF: 1.537)

63. Lee CJ, Oum CY, Lee Y, Park S, Kang SM, Choi D, Jang Y, Lee JH$, Lee SH. Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides. Yonsei Med J. 2018 Jan;59(1):148-153. $co-correspondence (IF: 1.537)

62. Lee CJ, Lee Y, Park S, Kang SM, Jang Y, Lee JH$, Lee SH$. Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels. PLoS One. 2017 Oct 16;12(10):e0186446. $co-correspondence (IF: 2.806)

61. Ahn J, Hwang B, Young Kim H, Jang H, Kim HP, Han SW, Kim TY, JH LEE$, Bang D$. Asymmetrical barcode adapter-assisted recovery of duplicate reads and error correction strategy to detect rare mutations in circulating tumor DNA. Sci Rep. 2017 May 2;7:46678. $co-correspondence (IF: 5.228)

60. Kim YY, Hwang J, Kim HS, Kwon HJ, Kim S, Lee JH, Lee JH. Genetic alterations in mesiodens as revealed by targeted next-generation sequencing and gene co-occurrence network analysis. Oral Dis. 2017 Oct;23(7):966-972. (IF: 2.000)

59. Bae DH*, Lee JH*, Song JS, Jung HS, Choi HJ, Kim JH. Genetic analysis of non-syndromic familial multiple supernumerary premolars. Acta Odontol Scand. 2017 Jul;75(5):350-354. *co-first (IF: 1.232)

58. Park HJ, Shin HY, Kim S, Kim SH, Lee Y, Lee JH, Hong JM, Kim SM, Park KD, Choi BO, Lee JH$, Choi YC$. Distal myopathy with ADSSL1 mutations in Korean patients. Neuromuscul Disord. 2017 May;27(5):465-472. $co-correspondence (IF: 3.107)

57. Han SM, Park J, Lee JH, Lee SS, Kim H, Han H, Kim Y, Yi S, Cho JY, Jang IJ, Lee MG. Targeted Next-Generation Sequencing for Comprehensive Genetic Profiling of Pharmacogenes. Clin Pharmacol Ther. 2017 Mar;101(3):396-405. (IF: 7.093)

56. Park HJ, Lee JH, Kim SH, Hong JM, Shin HY, Kim SM, Lee JH, Park KD, Choi YC. Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene. J Clin Neurol. 2017 Jan;13(1):116-118. (IF: 1.876)

55. Ahn J, Kim KH, Park S, Ahn YH, Kim HY, Yoon H, Lee JH, Bang D, Lee DH. Target sequencing and CRISPR/Cas editing reveal simultaneous loss of UTX and UTY in urothelial bladder cancer. Oncotarget. 2016 Sep 27;7(39):63252-63260. (IF: 5.008)

54. Kim HS, Cheon JH, Jung ES, Park J, Aum S, Park SJ, Eun S, Lee J, Rüther U, Yeo GS, Ma M, Park KS, Naito T, Kakuta Y, Lee JH, Kim WH, Lee MG. A coding variant in FTO confers susceptibility to thiopurine-induced leukopenia in East Asian patients with IBD. Gut. 2016 Aug 24. In press. (IF: 14.921)

53. Park HJ, Jang H, Kim JH, Lee JH, Shin HY, Kim SM, Park KD, Yim SV, Lee JH$, Choi YC. Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. Clin Genet. 2016 Jul 1. In press. $co-correspondence (IF: 3.892)

52. Ahn J, Han KS, Heo JH, Bang D, Kang YH, Jin HA, Hong SJ, Lee JH$, Ham WS$. FOXC2 and CLIP4: a potential biomarker for synchronous metastasis of ≤7-cm clear cell renal cell carcinomas. Oncotarget. 2016 Aug 9;7(32):51423-51434. $co-correspondence (IF: 5.008)

51. Lee HS*, Lee JH*, Kim SO, Song JS, Kim BI, Kim YJ, Lee JH. Comparison of the Oral Microbiome of Siblings Using Next-generation Sequencing: a Pilot Study. Oral Dis. 2016 Sep;22(6):549-56. *co-frist. (IF: 2.000)

50. Kim YS, Kang SM, Lee ES, Lee JH, Kim BR, Kim BI. Ecological changes in oral microcosm biofilm during maturation. J Biomed Opt. 2016 Oct 1;21(10):101409. (IF: 2.859)

49. Jung ES, Cheon JH, Lee JH, Park SJ, Jang HW, Chung SH, Park MH, Kim TG, Oh HB, Yang SK, Park SH, Han JY, Hong SP, Kim TI, Kim WH, Lee MG. HLA-C*01 is a Risk Factor for Crohn's Disease. Inflamm Bowel Dis. 2016 Apr;22(4):796-806. (IF: 5.475)

48. Lee ES, Yim HK, Lee HS, Choi JH, Kwon HK, JH LEE, Kim BI. Clinical assessment of oral malodor using autofluorescence of tongue coating. Photodiagnosis Photodyn Ther. 2016 Mar;13: 323–9. (IF: 2.014)

47. Shin DG, Han SM, Kim DI, Rhee MY, Lee BK, Ahn YK, Cho BR, Woo JT, Hur SH, Jeong JO, Jang Y, Lee JH$, Lee SH$. Clinical features of familial hypercholesterolemia in Korea: Predictors of pathogenic mutations and coronary artery disease - A study supported by the Korean Society of Lipidology and Atherosclerosis. Atherosclerosis. 2015 Nov;243(1):53-8. $co-correspondence (IF: 3.994)

46. Park HJ, Hong JM, Lee JH, Lee HS, Shin HY, Kim SM, Ki CS, Lee JH, Choi YC. Low D4Z4 copy number and gender difference in Korean patients with facioscapulohumeral muscular dystrophy type 1. Neuromuscul Disord. 2015 Nov;25(11):859-64. (IF: 3.134)

45. Jang HW, Kim SW, Cho YJ, Heo K, Lee BI, Lee SK, Jang IJ, Lee MG, Kim WJ$, Lee JH$. GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy. Epilepsy Res. 2015 Sep;115:88-94. $co-correspondence (IF: 2.015)

44. Kwon M, Han SM, Kim DI, Rhee MY, Lee BK, Ahn YK, Cho BR, Woo J, Hur SH, Jeong JO, Jang Y, Lee SH$, Lee JH$. Evaluation of polygenic cause in Korean patients with familial hypercholesterolemia - A study supported by Korean Society of Lipidology and Atherosclerosis. Atherosclerosis. 2015 Jun 30;242(1):8-12. $co-correspondence (IF: 3.994)

43. Choi H, Lee JH, Lee JH, Kim JH. Genetic association between VEGF polymorphisms and BRONJ in the Korean population. Oral Dis. 2015 Oct;21(7):866-71 (IF: 2.427)

42. Han JH, Kim S, Jang H, Kim SW, Lee MG, Koh H$, Lee JH$. Identification of a Novel p.Q1772X ANK1 Mutation in a Korean Family with Hereditary Spherocytosis. PLoS One. 2015 Jun 24;10(6):e0131251. $co-correspondence (IF: 3.534)

41. Han SM, Hwang B, Park TG, Kim DI, Rhee MY, Lee BK, Ahn YK, Cho BR, Woo J, Hur SH, Jeong JO, Park S, Jang Y, Lee MG, Bang D$, Lee JH$, Lee SH$. Genetic testing of korean familial hypercholesterolemia using whole-exome sequencing. PLoS One. 2015 May 11;10(5):e0126706. $co-correspondence (IF: 3.534)

40. Hyung Jun Park, Hoon Jang, Jung Hwan Lee, Ha Young Shin, Sung-Rae Cho, Kee Duk Park, Duhee Bang, Min Goo Lee, Seung Min Kim, Ji Hyun Lee$, Young-Chul Choi$, Clinical and pathological heterogeneity of Korean patients with CAPN3 mutations, Yonsei Med J. 2016 Jan;57(1):173-9. $co-correspondence (IF: 1.306)

39. Kim KW, Myers RA, Lee JH, Igartua C, Lee KE, Kim YH, Kim EJ, Yoon D, Lee JS, Hirota T, Tamari M, Takahashi A, Kubo M, Choi JM, Kim KE, Nicolae DL, Ober C, Sohn MH, Genome-wide association study of recalcitrant atopic dermatitis in Korean children, J Allergy Clin Immunol, 2015 Sep;136(3):678-684.e4. (IF: 11.248)

38. Shin HY, Jang H, Han JH, Park HJ, Lee JH, Kim SW, Kim SM, Park YE, Kim DS, Bang D, Lee MG, Lee JH$, Choi YC$. Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy. Neuromuscul Disord. 2015 Jun;25(6):502-10, $co-correspondence (IF: 3.134)

37. Quintero-Rivera F, Xi QJ, Keppler-Noreuil KM, Lee JH, Higgins AW, Anchan RM, Roberts AE, Seong IS, Fan X, Lage K, Lu LY, Tao J, Hu X, Berezney R, Gelb BD, Kamp A, Moskowitz IP, Lacro RV, Lu W, Morton CC, Gusella JF, Maas RL. MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. Hum Mol Genet. 2015 Apr 15;24(8):2375-89. (IF: 6.677)

36. Yoon JK, Ahn J, Kim HS, Han SM, Jang H, Lee MG, Lee JH$, Bang D$. microDuMIP: target-enrichment technique for microarray-based duplex molecular inversion probes. Nucleic Acids Res. 2015 Mar 11;43(5):e28. $co-correspondence (IF: 9.112)

35. Roh JI, Cheong C, Sung YH, Lee J, Oh J, Lee BS, Lee JE, Gho YS, Kim DK, Park CB, Lee JH, Lee JW, Kang SM, Lee HW. Perturbation of NCOA6 Leads to Dilated Cardiomyopathy. Cell Rep. 2014 Aug 21;8(4):991-8. (IF: 7.207)

34. Sang-Jun Na*, Ji Hyun Lee*, So Won Kim, Dae-Seong Kim, Eun Hee Shon, Hyung Jun Park, Ha Young Shin, Seung Min Kim and Young-Chul Choi. Whole-genome analysis in Korean patients with autoimmune myasthenia gravis. Yonsei Med J. 2014 May;55(3):660-8. *co-first (IF: 1.306)

33. Jin Woo Ahn*, Han Sang Kim*, Jung-Ki Yoon*, Hoon Jang, Soo Min Han, Hyo Sup Shim, Hyun Jung Kim, Dae Joon Kim, Jin Gu Lee, Chang Young Lee, Mi Kyung Bae, Kyung Young Chung, Ji Ye Jung, Eun Young Kim, Se Kyu Kim, Joon Chang, Hye Ryun Kim, Joo Hang Kim, Min Goo Lee, Byoung Chul Cho$, Ji Hyun Lee$, duhee Bang$. Identification of somatic mutations in EGFR/KRAS/ALK-negative lung adenocarcinoma in never-smokers. Genome Med. 2014 Feb 27;6(2):18. $co-correspondence (IF: 5.338)

32. Lee MK, Kim SW, Lee JH, Cho YJ, Kim DE, Lee BI, Kim HM, Lee MG, Heo K. A newly discovered LGI1 mutation in Korean family with autosomal dominant lateral temporal lobe epilepsy. Seizure. 2014 Jan;23(1):69-73. (2012 IF: 2.004)

31. Yi JH, Cho YJ, Kim WJ, Lee MG and Lee JH. Genetic Variations of ABCC2 Gene Associated with Adverse Drug Reactions to Valproic Acid in Korean Epileptic Patients. Genomics Inform. 2013 Dec;11(4):254-62. *Correspondence

30. Hyun Jae Lee*, Jinsei Jung*, Joong Wook Shin*, Mee Hyun Song, Sung Huhn Kim, Ji-Hyun Lee, Kyung-A Lee, Saeam Shin, Un-Kyung Kim, Jinwoong Bok, Kyu-yep Lee, Jae Young Choi, Hong Joon Park. Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations. Clinical Genetics, 2014 Sep;86(3):270-5. (2012 IF: 3.944)

29. Hye Ryun Kim, Hyung Soon Park, Woo Sun Kwon, Ji Hyun Lee, Yusuke Tanigawara, Sun Min Lim, Hyo Song Kim, Sang Jun Shin, Jung Bae Ahn and Sun Young Rha, Pharmacogenetic Determinants Associated with Sunitinib-Induced Toxicity and Ethnic Difference in Korean Metastatic Renal Cell Carcinoma Patients, Cancer Chemotherapy and Pharmacology, 2013 Oct;72(4):825-35. (2012 IF: 2.795)

28. Ji Hyun Lee*, Dong-Jik Shin*, Sungha Park, Seok-Min Kang, Yangsoo Jang and Sang-Hak Lee, Association Between CDH13 Variants and Cardiometabolic and Vascular Phenotypes in a Korean Population, Yonsei Med J. 2013 Nov 1;54(6):1305-12. *co-first (2012 IF: 1.306)

27. Kim KW, Park J, Lee JH, Lee HS, Lee J, Lee KH, Lee KE, Hong JY, Kim MN, Heo WI, Lee MG, Sohn MH, Kim KE. Association of genetic variation in chitotriosidase with atopy in Korean children. Ann Allergy Asthma Immunol. 2013 Jun;110(6):444-449.e1. (2012 IF: 3.449)

26. Lee SS, Lee HJ, Park JM, Hong YB, Park KD, Yoo JH, Koo H, Jung SC, Park HS, Lee JH, Lee MG, Hyun YS, Nakhro K, Chung KW, Choi BO. Proximal Dominant Hereditary Motor and Sensory Neuropathy With Proximal Dominance Association With Mutation in the TRK-Fused Gene. JAMA Neurol. 2013 May;70(5):607-15.(2012 IF: 6.31)

25. Hye Ryun Kim, Dae Joon Kim, Dae Ryong Kang, Jin Gu Lee, Sun Min Lim, Chang Young Lee, Sun Young Rha, Mi Kyung Bae, Young Joo Lee, Se Hoon Kim, Sang-Jun Ha, Ross Soo, Kyung Young Chung, Joo Hang Kim, Ji Hyun Lee*, Hyo Sup Shim* and Byoung Chul Cho*, Fibroblast Growth Factor Receptor 1 Gene Amplification Is Associated with Poor Survival and Cigarette Smoking Dosage in Resected Squamous Cell Lung Cancer Patients. Journal of Clinical Oncology, 2013 Feb 20;31(6):731-7. *co-correspondence (2011 IF: 18.372)

24. So Won Kim*, Ji Hyun Lee*, Sung Hee Lee, Hyun Ju Hong, Min Goo Lee and Ki-Hwan Yook, ABCB1 c.2677G>T variation is associated with adverse reactions of OROS-methylphenidate in children and adolescents with ADHD, Journal of Clinical Psychopharmacology, 2013 Aug;33(4):491-8. *co-first (2011 IF: 4.098)

23. Sun Mi Kim, Oh-Joon Kwon, Yun Kyoung Hong, Joo-Hang Kim, Flavio Solca, Sang-Jun Ha, Ross A Soo, James G Christensen, Ji Hyun Lee$ and Byoung Chul Cho$, Activation of IL-6R/JAK1/STAT3 Signaling Induces de novo Resistance to Irreversible EGFR Inhibitors in Non-Small Cell Lung Cancer with T790M Resistance Mutation, Molecular Cancer Therapeutics, 2012 Oct;11(10):2254-64. $co-correspondence (2011 IF: 5.226)

22. Min kyu Jung, Byoung Chul Cho, Chul Ho Lee, Hyung Soon Park, Young Ae Kang, Se Kyu Kim, Joon Chang, Dae Jun Kim, Sun Young Rha, Joo Hang Kim, and Ji Hyun Lee. EGFR Polymorphism as a Predictor of Clinical Outcome in Advanced Lung Cancer Patients Treated with EGFR-TKI, Yonsei Med J. 2012 Nov 1;53(6):1128-35. *correspondence (2011 IF: 1.137)

21. Ramos EM, Latourelle JC, Lee JH, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, Macdonald ME. Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset. Hum Genet. 2012 Dec;131(12):1833-40.(2011 IF: 5.069)

20. Lee JH, Lee JM, Ramos EM, Gillis T, Mysore JS, Kishikawa S, Hadzi T, Hendricks AE, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Gellera C, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Bernhard Landwehrmeyer G; on behalf of the Registry Study of the European Huntington’s Disease Network, Shoulson I; on behalf of the Huntington Study Group COHORT project, Myers RH, Macdonald ME, Gusella JF. TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease. Biochem Biophys Res Commun. 2012 Aug 3;424(3):404-8. *first, correspondence (2011 IF: 2.484)

19. Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, Macdonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF. Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies. Am J Hum Genet. 2012 Jul 13;91(1):56-72. (2011 IF: 10.603)

18. Ji Hyun Lee, Joo Hyun Nam, Dong-Won Kang, Joo Young Kim, Min Goo Lee, and Jae Seok Yoon, Regulation of SLC26A3 activity by NHERF4 PDZ-mediated interaction. Cell Signal. 2012 Sep;24(9):1821-30. *first (2011 IF: 4.058)

17. Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, Lee JH, Ha K, Kim HG, Solomon BD, Gropman AL, Lucente D, Sims K, Ohsumi TK, Borowsky ML, Loranger S, Quade B, Lage K, Miles J, Wu BL, Shen Y, Neale B, Shaffer LG, Daly MJ, Morton CC, Gusella JF. Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries. Cell. 2012 Apr 27;149(3):525-37. (2011 IF: 32.403)

16. Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS; PREDICT-HD study of the Huntington Study Group (HSG), Landwehrmeyer GB; REGISTRY study of the European Huntington's Disease Network, Myers RH; HD-MAPS Study Group, MacDonald ME, Gusella JF; COHORT study of the HSG. CAG repeat expansion in Huntington’s disease determines age at onset in a fully dominant fashion, Neurology. 2012 Mar 6;78(10):690-695. (2011 IF: 8.312)

15. Ji Hyun Lee*, Kyung Won Kim*, Heon Yung Gee, Jaechun Lee, Keun-Hwa Lee, Hae-Sim Park, Seung-Hyun Kim, So Won Kim, Kyu-Earn Kim, Kyung Hwan Kim, Min Goo Lee, and Myung Hyun Sohn, A synonymous variation in Protease-Activated Receptor-2 is associated with atopy in Korean children, J ALLERGY CLIN IMMUN. 2011 Dec;128(6):1326-1334.e3. *co-first (2010 IF: 9.273)

14. Hong IH, Jeong YW, Shin T, Hyun SH, Park JK, Ki MR, Han SY, Park SI, Lee JH, Lee EM, Kim AY, You SY, Hwang WS, Jeong KS. Morphological abnormalities, impaired fetal development and decrease in myostatin expression following somatic cell nuclear transfer in dogs. Mol Reprod Dev. 2011 May;78(5):337-46. (2010 IF: 2.395)

13. Sung Hee Lee, Min-Soo Lee, Ji Hyun Lee, So Won Kim, Rhee-Hun Kang, Myoung-Jin Choi, Sang Jin Park, Se Joo Kim, Jae Myun Lee, Susan P. C. Cole and Min Goo Lee. MRP1 Polymorphisms Associated with Citalopram Response in Patients with Major Depression. J Clin Psychopharmacol. 2010 Apr;30(2):116-25. (2009 IF: 5.092)

12. Lee JH*, Kim WJ*, Yi J, Cho YJ, Heo K, Lee SH, Kim SW, Kim MK, Kim KH, In Lee B, Lee MG. A nonsynonymous variation in MRP2/ABCC2 is associated with neurological adverse drug reactions of carbamazepine in patients with epilepsy. Pharmacogenet Genomics. 2010 Apr;20(4):249-56. *co-first (2009 IF: 3.991)

11. Kwak JO, Lee SH, Lee GS, Kim MS, Ahn YG, Lee JH, Kim SW, Kim KH, Lee MG. Selective inhibition of MDR1 (ABCB1) by HM30181 increases oral bioavailability and therapeutic efficacy of paclitaxel. Eur J Pharmacol. 2010 Feb 10;627(1-3):92-8. (2009 IF: 2.585)

10. Gee HY, Kim CK, Kim SW, Lee JH, Kim JH, Kim KH, Lee MG. The L441P mutation of cystic fibrosis transmembrane conductance regulator and its molecular pathogenic mechanisms in a Korean patient with cystic fibrosis. J Korean Med Sci. 2010 Jan;25(1):166-71. (2009 IF: 0.838)

9. Kim KW, Lee JH, Lee MG, Kim KH, Sohn MH, Kim KE, Association between Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and Susceptibility for Childhood Asthma in Korea. Yonsei Med J. 2010 Nov 1;51(6):912-7. (2009 IF: 0.772)

8. Lee JH*, Sohn MH*, Kim KW, Kim SW, Lee SH, Kim KE, Kim KH, Lee CG, Elias JA, Lee MG. Genetic Variation in the Promoter Region of Chitinase 3-Like 1 (CHI3L1) is Associated with Atopy. Am J Respir Crit Care Med. 2009 Mar 15; 179(6):449-56. *co-first (2008 IF: 9.792)

7. Choi JH, Ahn BM, Yi J, Lee JH , Lee JH, Nam SW, Chon CY, Han KH, Ahn SH, Jang IJ, Cho JY, Suh Y, Cho MO, Lee JE, Kim KH, Lee MG. MRP2 haplotypes confer differential susceptibility to toxic liver injury. Pharmacogenet Genomics. 2007 Jun; 17(6):403-15. (2006 IF: 5.391)

6. Lee JH, Richter W, Namkung W, Kim KH, Kim E, Conti M, Lee MG. Dynamic regulation of cystic fibrosis transmembrane conductance regulator by competitive interactions of molecular adaptors. J Biol Chem. 2007; 282(14):10414-22. *first (2006 IF: 5.808)

5. Han W, Kim KH, Jo MJ, Lee JH, Yang J, Doctor RB, Moe OW, Lee J, Kim E, Lee MG. Shank2 associates with and regulates Na+/H+ exchanger 3. J Biol Chem. 2006; 281(3):1461-9. (2005 IF: 5.854)

4. Lee JE, Choi JH, Lee JH, Lee MG. Gene SNPs and mutations in clinical genetic testing: haplotype-based testing and analysis. Mutat Res. 2005; 573(1-2):195-204. (2004 IF: 3.340)

3. Ahn KM, Park HY, Lee JH, Lee MG, Kim JH, Kang IJ, Lee SI. Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis. J Korean Med Sci. 2005; 20(1):153-7. (2004 IF: 0.628)

2. Kim JY, Han W, Namkung W, Lee JH, Kim KH, Shin H, Kim E, Lee MG. Inhibitory regulation of cystic fibrosis transmembrane conductance regulator anion-transporting activities by Shank2. J Biol Chem. 2004; 279(11):10389-96. (2003 IF: 6.482)

1. Lee JH, Choi JH, Namkung W, Hanrahan JW, Chang J, Song SY, Park SW, Kim DS, Yoon JH, Suh Y, Jang IJ, Nam JH, Kim SJ, Cho MO, Lee JE, Kim KH, Lee MG. A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases. Hum Mol Genet. 2003; 12(18):2321-32. *first (2002 IF: 8.726)