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Choi TY, Jeon H, Jeong S, Kim EJ, Kim J, Jeong YH, Kang B, Choi M, Koo JW. Neuron (2023)

PMID: 38086372

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Yoo Y, Park SY, Jo EB, Choi M, Lee KW, Hong D, Lee S, Lee CR, Lee Y, Um JY, Park JB, Seo SW, Choi YL, Kim S, Lee SG, Choi MCancers (2021)

PMID: 34206586

Lee S, Shin CH, Lee J, Jeong SD, Hong CR, Kim JD, Kim AR, Pak B, Son S, Kokhan O, Yoo T, Ko JS, Sohn YB, Kim OH, Ko JM, Cho TJ, Wright NT, Seong JK, Jin SW, Kang HJ, Kim HH, Choi MBlood (2021)

PMID: 34115847

Yoo T, Joo SK, Kim HJ, Kim HY, Sim H, Lee J, Kim HH, Jung S, Lee Y, Jamialahmadi O, Romeo S, Jeong WI, Hwang GS, Kang KW, Kim JW, Kim W, Choi M. J Hepatol. (2021) 

PMID: 33892010

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Kadara H*, Choi M*, Zhang J, Parra ER, Rodriguez-Canales J, Gaffney SG, Zhao Z, Behrens C, Fujimoto J, Chow C, Yoo Y, Kalhor N, Moran C, Rimm D, Swisher S, Gibbons DL, Heymach J, Kaftan E, Townsend JP, Lynch TJ, Schlessinger J, Lee J, Lifton RP, Wistuba II, Herbst RS. Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up. Ann Oncol (2017) 

PMID: 27687306


Choi M*,Kadara H* Zhang J, Parra ER, Rodriguez-Canales J, Gaffney SG, Zhao Z, Behrens C, Fujimoto J, Chow C, Kim K, Kalhor N, Moran C, Rimm D, Swisher S, Gibbons DL, Heymach J, Kaftan E, Townsend JP, Lynch TJ, Schlessinger J, Lee J, Lifton RP, Herbst RS, Wistuba II. Mutation profiles in early-stage lung squamous cell carcinoma with clinical follow-up and correlation with markers of immune function. Ann Oncol (2017) 

PMID: 28177435

Kang HG*, Lee M*, Lee KB, Hughes M, Kwon BS, Lee S, McNagny KM, Ahn YH, Ko JM, Ha IS, Choi M* , Cheong HI* Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome.  Exp Mol Med. (2017)

PMID: 29244787

Yoo Y, Jung J, Lee YN, Lee Y, Cho H, Na E, Hong J, Kim E, Lee JS, Lee JS, Hong C, Park SY, Wie J, Miller K, Shur N, Clow C, Ebel RS, DeBrosse SD, Henderson LB, Willaert R, Castaldi C, Tikhonova I, Bilgüvar K, Mane S, Kim KJ, Hwang YS, Lee SG, So I, Lim BC, Choi HJ, Seong JY, Shin YB, Jung H, Chae JH1, Choi M*, GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. Ann Neurol. (2017)

PMID: 28856709

Lee S*, Seo J*, Park J*, Nam JY*, Choi A, Ignatius JS, Bjornson RD, Chae JH, Jang IJ, Lee S, Park WY, Baek D**, Choi M**. Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population. Sci Rep. (2017)

PMID: 28655895

Seo J*, Kang JA*, Suh DI*, Park EB, Lee CR, Choi SA, Kim SY, Kim Y, Park SH, Ye M, Kwon SH, Park JD, Lim BC, Lee DH, Kang SJ, Choi M**, Park SG**, Chae JH**. Tofacitinib relieves symptoms of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173J Allergy Clin Immunol. (2016)

PMID: 28041677

Lee S*, Moon JS*, Lee C-R*, Kim H-E, Baek S-M, Hwang S, Kang GH, Seo JK, Shin CH, Kang HJ, Ko SJ**, Park SG**, Choi M**. Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4. J Allergy Clin Immunol. (2016)

PMID: 26478010

Zaidi S*, Choi M*, De novo mutations in histone-modifying genes in congenital heart disease. Nature. (2013)

PMID: 21311022


Boyden LM, Choi M et al. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature (2012) 

PMID: 22266938

Lo SM*, Choi M* et al. Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis. Blood. (2012)

PMID: 22493294

Choi M et al. K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science (2011)

PMID: 21311022

Choi M et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc. Natl. Acad. Sci. USA. (2009)

PMID: 19861545

Choi M et al. Chordin is a modifier of Tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse. PLoS Genet. (2009)

PMID: 19247433

Choi M et al. E2F1 activates the human p53 promoter and overcomes the repressive effect of hepatitis B viral X protein (Hbx) on the p53 promoter. IUBMB Life (2002)

PMID: 12625370

Choi M et al. Frequency data on four tetrameric STR loci D18S1270, D14S608, D16S3253 and D21S1437 in a Korean population. Int J Legal Med. (2000)

PMID: 10876993

Full publication list can be seen here.




Aug 30, 2020

Congratulations to Young Ha for his Ph.D. graduation!

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Sep 30, 2019

Congrats to Jaeso to Korea-Swiss exchange student program fellowship by NRF!

Aug 31, 2019

Congratulations to Jeongha for getting the Global Ph.D. fellowship from NRF!

Aug 29, 2019

Congratulations to Jana for her Ph.D. graduation!

Aug 30, 2018

Congratulations to Yongjin for his Ph.D. graduation!

Feb 27, 2018

Congratulations to Sangmoon for his Ph.D. graduation!

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Seoul National University Graduate School, Biomedical Science Building 107, 103 Daehakro, Jongro-gu, Seoul 03080, Korea.


Apr 15, 2018

Hiking trip to the Bukhansan National Park in Seoul, Korea. (April 2018)

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