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현재 페이지 위치 : 삼성유전체연구소 > RESEARCH > Publications > 2015


Publications 2015

1. Kim N, Park KT, Kim AR, Kim SY, Kim MY, Oh SH, Joung JG, Park WY, Choi BY.
Whole Exome Sequencing Reveals Diverse Modes of Inheritance in Sporadic Mild to Moderate Sensorineural Hearing Loss.
Genet Med. 2015 Mar; 38(3):251-8

2. Park G, Kim TH, Lee HO, Lim JA, Min HS, Lee KE, Park DJ, Park YJ, Park WY.
Standard immunohistochemistry efficiently screens for anaplastic lymphoma kinase rearrangements in differentiated thyroid cancer. Endocr Relat Cancer. 2015 Feb;22(1):55-63.

3. Son DS, Lee DH, Lee K, Jung SH, Ahn T, Lee E, Sohn I, Chung J, Park WY, Lee JW, Huh N.
Practical approach to determine sample size for building logistic prediction models using high-throughput data. J Biomed Inform. 2015 Feb;53:355-62

4. Chang M, Kim N, Higashi T, Lee KY, Kim AR, Kitajiri S, Kim MY,Oh SH, Kim D, Furuse M, Park WY, Choi BY.
Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain. PLoS ONE 2015 Feb 10;10(2):e0116931

5. Ko JM, Bae JS, Choi JS, Miura K, Lee HR, Kim OH, Kim N, Oh SK, Ozono K, Choi IH, Park WY, Cho TJ.
Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1). Am J Med Genet A. 2015 Feb 27. doi: 10.1002

6. Lee HO, Jeong JH, Jo AR, Park PG, Lee HS.
Brac2 deficiency leads to T cell loss and immune dysfunction. Mol Cells. 2015 Mar; 38(3):251-8

7. Sang Yun Ha, So-Jung Choi, Jong Ho Cho, Hye Joo Choi, Jinseon Lee, Kyungsoo Jung, Darry Irwin, Xiao Liu, Maruja E. Lira, Mao Mao, Hong Kwan Kim, Yong Soo Choi, Young Mog Shim, Woong Yang Park, Yoon-La Choi, Jhingook Kim.
Lung cancer in never-smoker Asian females is driven by oncogenic mutations, most often involving EGFR. Oncotarget. 2015 Mar 9.

8. Park A, Francis J, Park WY, Park JO, Cho J.
Constitutive Asymmetric Dimerization is a Key Mechanism for Oncogenic Activation of Epidermal Growth Factor Receptor Carboxy-Terminal Deletion Mutants. Oncotarget. 2015 Apr 20;6(11):8839-50

9. Bae JS, Kim JY, Park BL, Cheong HS, Kim JH, Namgoong S, Kim JO, Park CS, Kim BJ, Lee CS, Lee M, Choi WH, Shin TM, Hwang J, Shin HD, Woo SI.
Investigating the potential genetic association between RANBP9 polymorphisms and the risk of schizophrenia. Mol Med Rep.
2015 Apr;11(4):2975-80.

10. Bae JS, Park BL, Cheong HS, Kim JH, Kim JY, Namgoong S, Kim JO, Park CS, Kim BJ, Lee CS, Kim JW, Choi WH, Shin TM, Hwang J, Koh IS, Shin HD, Woo SI.
Association analysis of PDE4B polymorphisms with schizophrenia and smooth pursuit eye movement abnormality in a Korean population. Gen Physiol Biophys. 2015 Apr 30.

11. Yi JH, Jang J, Cho J, Do IG, Hong M, Kim ST, Kim KM, Lee S, Park SH, Park JO, Park YS, Kang WK, Lim HY, Lee J.
MerTK is a novel therapeutic target in gastric cancer. Oncotarget. 2015 Apr 20

12. Kim KT, Lee HW, Lee HO, Kim SC, Seo YJ, Chung W, Eum HH, Nam DH, Kim J, Joo KM, Park WY.
Single-cell mRNA sequencing infers subclonal heterogeneity in anti-cancer drug responses of lung adenocarcinoma cells.
Genome Biology. 2015 Jun 19;16:127. doi: 10.1186/s13059-015-0692-3.

13. Lee JY, Moon YJ, Lee HO, Park AK, Wang KC, Joung JG, Kang HS, Kim JE, Phi JH, Park WY, Kim SK.
Deregulation of retinaldehyde dehydrogenase 2 leads to defective angiogenic function of endothelial colony-forming cells in pediatric moyamoya disease. Arteriosclerosis, Thrombosis, and Vascular Biology 2015 Jul;35(7):1670-7.

14. Yoon CK, Kim N, Shin JY, Park JH, Eum HH, Joung JG, Lee HO, Yu HG, Park WY.
Diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa. BMC Genomics. 2015 Jul 9;16:515

15. Lee SH, Jin KS, Bang OY, Kim BJ, Park SJ, Lee NH, Yoo KH, Koo HH, Sung KW.
Differential Migration of Mesenchymal Stem Cells to Ischemic Regions after Middle Cerebral Artery Occlusion in Rats. PLoS One. 2015 Aug 4;10(8):e0134920

16. Min JW, Kim WJ, Hahn JA, Jung YJ, Kim KT, Park WY, Lee HO, Choi SS.
Identification of Distinct Tumor Subpopulations in Lung Adenocarcinoma via Single-Cell RNA-seq. PLoS One.
2015 Aug 25;10(8):e0135817

17. Park W, Kim N, Yi Z, Cho A, Kim K, Ficarro SB, Park A, Park WY, Meyerson M, Marto JA, Cho J, Eck MJ.
Structure and mechanism of activity-based inhibition of the EGF receptor by Mig6. Nat Struct Mol Biol. 2015 Sep;22(9):703-11

18. Lee JY, Kim SY, Park C, Kim N, Jang J, Park K, Ho J, Hong M, Ahn TJ, Rath O, Schueler , Kim ST, Do IG, Lee SJ, Park SH, Ji WI, Kim D, Park JO, Park YS, Kang WK, Kim KM, Park WY, Lim HY, Lee JY.
Patient-derived cell models as preclinical tools for genome-directed targeted therapy. Oncotarget. Accepted

19. Kim ST, Lee J, Hong M, Park K, Park JO, Ahn TJ, Park SH, Park YS, Lim HY, Kim SY, Sun JM, Ahn JS, Ahn MJ, Kim HC, Sohn TS, Choi DI, Cho JH, Heo JH, Kwon W, Uhm SW, Lee H, Min BH, Hong SN, Kim DH, Park WY, Kim KM, Kang WK, Park K.
The NEXT-1 (Next generation pErsonalized tX with mulTi-omics and preclinical model) Trial: Prospective molecular screening trial of metastatic solid cancer patients, a feasibility analysis. Oncotarget. 2015 Oct 20;6(32):33358-68

20. Kim N, Bae JS, Kim OH, Park WY, Cho TJ.
Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing. Genet Med. 2015 Sep 24

21. Park YH, Shin HT, Jung HH, Choi YL, Ahn T, Park K, Lee A, Do I, Kim, JY Ahn JS, Park WY, Im YH.
Role of HER2 mutations in refractory metastatic breast cancers: Targeted sequencing results in patients with refractory breast cancer. Oncotarget. 2015 Oct 13;6(31):32027-38

22. Park KH, Park YH.
Mutational profiling of brain metastasis from breast cancer: macted pair analysis of targeted sequencing between brain metastasis and primary breast cancer. Oncotarget. 2015 Dec 22;6(41):43731-42

23. Jung H, Lee D, Lee J, Hong D, Park PJ, Lee E.
Intron retention is a widespread mechanism of tumor suppressor inactivation. Nat Genet. 2015 Nov;47(11):1242-8

24. Mallavarapu RS, Ahn TJ, Mukherjee S, Bopardikar AS, Agarwal G, Park T.
Estimating functional coupling between cancer gene sub-networks using novel interaction measures, INTERNATIONAL JOURNAL OF DATA MINING AND BIOINFORMATICS

25. Choi JW, Min B, Kim A, Koo JW, Kim CS, Park WY, Chung J, Kim V, Ryu YJ, Kim SH, Chang SO, Oh SH, Choi BY.
De novo large genomic deletions involving pou3f4 in incomplete partition type iii inner ear anomaly in east Asian populations and implications for genetic counseling. Otol Neurotol. 2015 Jan;36(1):184-90

26. Kim D, Joung JG, Sohn KA, Shin H, Park YR, Ritchie MD, Kim JH.
Knowledge boosting: a graph-based integration approach with multi-omics data and genomic knowledge for cancer clinical outcome prediction. J Am Med Inform Assoc. 2015 Jan;22(1):109-20

27. Singh A, Kim OH, Iida A, Park WY, Ikegawa S, Kapoor S.
A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type. Eur J Med Genet. 2015 Feb;58(2):105-10

28. Seo J, Choi IH, Lee JS, Yoo Y, Kim NK, Choi M, Ko JM, Shin YB.
Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations. J Hum Genet.
2015 Apr;60(4):213-5. doi: 10.1038/jhg.2015.2

29. Han MS, Ko JM, Cho TJ, Park WY, Cheong HI.
A Novel NOTCH2 Mutation Identified in a Korean Family with Hajdu-Cheney Syndrome Showing Phenotypic Diversity.
Ann Clin Lab Sci. 2015 Jan;45(1):110-114.
30. Chee HK, Yang JS, Joung JG, Zhang BT, Oh SJ.
Characteristic molecular vibrations of adenosine receptor ligands. FEBS Lett. 2015 Feb 13;589(4):548-52

31. Lee SJ, Li GG, Kim ST, Hong ME, Jang J, Yoon N, Ahn SM, Murphy D, Christiansen J, Wei G, Hornby Z, Lee DW, Park JO, Park YS, Lim HY, Hong SN, Kim SH, Kang WK, Park K, Park WY, Kim KM, Lee J.
NTRK1 rearrangement in colorectal cancer patients: evidence for actionable target using patient-derived tumor cell line.
Oncotarget. 2015 Nov 17;6(36):39028-35

32. Lee JM, Ahn YH, Kang HG, Ha IS, Lee K, Moon KC, Lee JH, Park YS, Cho YM, Bae JS, Kim NK, Park WY, Cheong HI.
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. Pediatr Nephrol. 2015 Mar 1

33. Kang G, Yun H, Sun CH, Park I, Lee S, Kwon J, Do I, Hong ME, Vrancken MV, Lee J, Park JO, Cho J, Kim KM, Sohn TS.
Integrated genomic analyses identify frequent gene fusion events and VHL inactivation in gastrointestinal stromal tumors. Oncotarget. 2015 Mar 30

34. Choi YJ, Nam YS, Yun JM, Park JH, Cho BL, Son HY, Kim JI, Yun JW.
Association between salivary amylase (AMY1) gene copy numbers and insulin resistance in asymptomatic Korean men.
Diabet Med.  2015 May 20. doi: 10.1111/dme.12808.

35. Kim BJ, Kim AR, Park G, Park WY, Chang SO, Oh SH, Choi BY.
Targeted Exome Sequencing of Deafness Genes After Failure of Auditory Phenotype-driven Candidate Gene Screening.
Otol Neurotol. 2015 Jul;36(6):1096-102. doi: 10.1097/MAO.0000000000000747

36. Hwang SJ, Lee HW, Kim HR, Song HJ, Lee DH, Lee H, Shin CH, Joung JG, Kim DH, Joo KM, Kim HH.
Overexpression of microRNA-95-3p suppresses brain metastasis of lung adenocarcinoma through downregulation of cyclin D1. Oncotarget. 2015 May 7.

37. Kim K, Yang W, Lee KS, Bang H, Jang K, Kim SC, Yang JO, Park S, Park K, Choi JK.
Global transcription network incorporating distal regulator binding reveals selective cooperation of cancer drivers and risk genes. Nucleic Acids Res.2015 Jul 13;43(12):5716-29. doi: 10.1093/nar/gkv532

38. Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, Mikati M, ?ncecik F, Azam M, Borgatti R, Romaniello R, Boustany RM, Clericuzio CL, D'Arrigo S, Strømme P, Boltshauser E, Stanzial F, Mirabelli-Badenier M, Moroni I, Bertini E, Emma F, Steinlin M, Hildebrandt F, Johnson CA, Freilinger M, Vaux KK, Gabriel SB, Aza-Blanc P, Heynen-Genel S, Ideker T, Dynlacht BD, Lee JE, Valente EM, Kim J, Gleeson JG.
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 2015 May 30;4:e06602

39. Lee JW, Park YS, Lee JH, Park SJ, Shin JI, Park YH, Yoo KH, Cho MH, Kim SY, Kim SH, Namgoong MK, Lee SJ, Lee JH, Cho HY, Han KH, Kang HG, Ha IS, Bae JS, Kim N, Park WY, Cheong HI.
Atypical hemolytic uremic syndrome: a Korean pediatric series. Pediatr Int. 2015 Jun;57(3):431-8

40. Park WY. The Cancer Genome Atlas Network.
Genomic Classification of Cutaneous Melanoma. Cell. 2015 Jun 18;161(7):1681-96. doi: 10.1016

41. Park JH, Cho B, Kwon H, Prilutsky D, Yun JM, Choi HC, Hwang KB, Lee IH, Kim JI, Kong SW.
I148M variant in PNPLA3 reduces central adiposity and metabolic disease risks while increasing nonalcoholic fatty liver disease. Liver Int. 2015 Dec;35(12):2537-46

42. Lee HB, Joung JG, Kim J, Lee KM, Lee M, Ryu HS, Lee HO, Yoo TK, Lee E, Kim J, Kim MK, Moon HG, Park IA, Park WY, Noh DY Han W.
The use of fine-needle aspiration biopsy samples for whole-exome sequencing and detection of somatic mutations in breast cancer. Cancer Cytopathol. 2015 Nov;123(11):669-77

43. Ji JH, Oh YR, Hong M, Yun JW, Lee HW, Kim DG, Ji Y, Kim DH, Park WY, Shin HT, Kim KM, Ahn MJ, Park K, Sun JM.
Identification of driving ALK fusion genes and genomic landscape of medullary thyroid cancer. PLoS Genet.
2015 Aug 21;11(8):e1005467

44. Chang MY, Kim AR, Kim N, Lee C, Lee KY, Jeon WS, Koo JW, Oh SH, Park WY, Kim D, Choi BY.
Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing. Mol Cells. 2015 Sep;38(9):781-8

45. Kim J, Lee IH, Cho HJ, Park CK, Jung YS, Kim Y, Nam SH, Kim BS, Johnson MD, Kong DS, Seol HJ, Lee JI, Joo KM, Yoon Y, Park WY, Lee J, Park PJ, Nam DH.
Spatiotemporal Evolution of the Primary Glioblastoma Genome. Cancer Cell. 2015 Sep 14;28(3):318-28

46. Oh DY, Kim S, Choi YL, Cho YJ, Oh E, Choi JJ, Jung K, Song JY, Ahn SE, Kim BG4 Bae DS, Park WY, Lee JW, Song S.
HER2 as a novel therapeutic target for cervical cancer. Oncotarget. 2015 Nov 3;6(34):36219-30

47. Lee S, Li GG, ParkWY, Kim ST.
NTRK1 rearrangement in colorectal cancer patients: evidence for actionable target using patient-derived tumor cell line, ONCOTARGET, 2015 Nov 17;6(36):39028-35.

48. Kim ST, Ahn TJ, Lee E, Do IG, Lee SJ, Park SH, Park JO, Park YS, Lim HY, Kang WK, Kim SH, Lee J, Kim HC.
Exploratory biomarker analysis for treatment response in KRAS wild type metastatic colorectal cancer patients who received cetuximab plus irinotecan. BMC Cancer. 2015 Oct 20;15:747

49. Park HJ, Hong YB, Choi YC, Lee J, Kim EJ, Lee JS, Mo WM, Ki SM, Kim HI, Kim HJ, Hyun YS, Hong HD, Nam K, Jung SC, Kim SB, Kim SH, Kim DH, Oh KW, Kim SH, Yoo JH, Lee JE, Chung KW, Choi BO.
ADSSL1 mutation relevant to autosomal recessive adolescent-onset distal myopathy. Ann Neurol. 2016 Feb;79(2):231-43

50. Yang SY, Choi SA, Lee JY, Park AK, Wang KC, Phi JH, Koh EJ, Park WY, Park SH, Hwang DW, Jung HW, Kim SK.
miR-192 suppresses leptomeningeal dissemination of medulloblastoma by modulating cell proliferation and anchoring through the regulation of DHFR, integrins, and CD47. Oncotarget. 2015 Dec 22;6(41):43712-30

51. Yu DH, Lee SJ, Lee WJ, Kim SC, Lim JH, Kwon SW.
Classification of Spectral Data Using Fused Lasso Logistic Regression, CHEMOMETRICS AND INTELLIGENT LABORATORY SYSTEMS