Functional Genomics Lab

Selected 35 publications with significant roles from 183 papers.

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Link to the Pubmed page

Link to the Google Scholar page (Total citations: 34,297 and h-index: 67 as of Aug/2025)

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     *, †: equal contributions

     Bold: Choi lab member

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2025

• Sim, H., Park, G.-H., Park, W.-Y., Lee, S.-H.,† Choi, M.† Single-cell-eQTL mapping in circulating immune cells reveals genetic regulation of response-associated networks in lung cancer immunotherapy. Cancer Commun. (2025) in press

• Hong, S. E., Mun, S. J., Lee, Y. J., Yoo, T., Suh, K.-S., Kang, K. W., Son, M. J., Kim, W.,† Choi, M.† Identification of genes conferring individual-level variation responsible for metabolic dysfunction-associated steatohepatitis using single-cell eQTL analysis. Nat. Genet. (2025) 57:1638-1648. 

• Moon, H.,* Kim, M.,* Sim, H.,* Hong, S., Jeon, H., Cho, J.,† Choi, M.† Comprehensive profiling of genetic and non-genetic factors that influence skin traits in Asian women from four countries. J. Invest. Dermatol. (2025) S0022-202X(25)00290-8.

• Jeon, E. Y., Kwak, Y., Kang, H., Jin, S. Y., Park, S., Kim, R. G., Ko, D., Won, J.-K., Cho, A., Jung, I., Lee, C.-H., Park, J., Kim, H.-Y., Chae, J.-H.,† Choi, M.† Inhibiting EZH2 complements steroid effects in Duchenne muscular dystrophy. Sci Adv. (2025) 11:eadr4443.

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2024

• Sim, H., Park, H. J., Park, G. H., Kim, Y. J., Park, W. Y., Lee, S. H.,† Choi, M.† Increased inflammatory signature in myeloid cells of non-small cell lung cancer patients with high clonal hematopoiesis burden. Elife. (2024) 13:RP96951.

• Jang, Y.,* Hong, S. E.,* Ahn, S. H., Mon, S. Y., You, J. H., Chu, K., Lee, S. K., Choi, M.,† Lee, S. T.† Polygenic landscape of cryptogenic new-onset refractory status epilepticus: A comprehensive whole-genome sequencing study. Ann Neurol. (2024) 96:1201-1208.

• Lee, C. R.,* Suh, J.,* Jang, D., Jin, B. Y., Cho, J., Lee, M., Sim, H., Kang, M., Lee, J., Park, J. H., Lee, K. H., Hwang, G. S., Moon, K. C., Song, C., Ku, J. H., Kwak, C., Kim, H. H., Cho, S. Y.,† Choi, M.,† Jeong, C. W.† Comprehensive molecular characterization of TFE3-rearranged renal cell carcinoma. Exp Mol Med. (2024) 56:1807-1815.

• Choi, T.-Y.,* Jeon, H.,* Jeong, S., Kim, E. J., Kim, J., Jeong, Y. H., Kang, B. Choi, M.,† Koo, J. W.† Distinct prefrontal projection activity and transcriptional state conversely orchestrate social competition and hierarchy. Neuron (2024) 112:611-627.

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2022

• Lee, J.,* Lee, J.,* Jeon, S., Lee, J., Jang, I., Yang, J. O., Park, S., Lee, B., Choi, J., Choi, B.-O., Gee, H. Y., Oh, J., Jang, I.-J., Lee, S., Baek, D., Koh, Y., Yoon, S.-S., Kim, Y.-J., Chae, J.-H., Park, W.-Y., Bhak, J. H.,† Choi, M.† A database of 5,305 healthy Korean individuals reveals genetic and clinical implications for an East Asian population. Exp Mol Med. (2022) 54:1862-1871.

• Park, S., Jang, S. S., Lee, S., Kim, M., Sim, H., Jeon, H., Hong, S. E., Lee, J., Lee, J., Jeon, E. Y., Lee, J., Lee, C.-R., Kim, S. Y., Kim, M. J., Yoon, J. G., Lim, B. C., Kim, W. J., Kim, K. J., Ko, J. M., Cho, A., Lee, J. S., Choi, M.,† Chae, J.-H.† Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases. Front Genet. (2022) 13:990015.

• Hong, S. E.,* Kneissl, J.,* Cho, A., Kim, M. J., Park, S., Lee, J., Woo, S., Kim, S., Kim, J.-S., Kim, S. Y., Jung, S., Kim, J., Shin, J.-Y., Chae, J.-H.,† Choi, M.† Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases. J Med Genet (2022) 59:1075-1081.

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2021

• Yoo, Y.,* Park, S. Y.,* Jo, E. B., Choi, M., Lee, K. W., Hong, D., Lee, S., Lee, C. R., Lee, Y., Um, J. Y., Park, J. B., Seo, S. W., Choi, Y. L., Kim, S.,† Lee, S. G.,† Choi, M.† Overexpression of Replication-Dependent Histone Signifies a Subset of Dedifferentiated Liposarcoma with Increased Aggressiveness. Cancers (2021) 13:3122.

• Lee, S.,* Shin, C. H.,* Lee, J., Jeong, S. D., Hong, C. R., Kim, J.-D., Kim, A.-R., Park, B., Son, S. J., Kokhan, O., Yoo, T., Ko, J. S., Sohn, Y. B., Kim, O.-H., Ko, J.-M., Cho, T. J., Wright, N. T., Seong, J. K., Jin, S.-W., Kang, H. J.,† Kim, H. H.,† Choi, M.† Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome. Blood (2021) 138:2117-2128.

• Yoo, T., Joo, S. K., Kim, H. J., Kim, H. Y., Sim, H., Lee, J., Kim, H. H., Jung, S., Lee, Y., Jamialahmadi, O., Romeo, S., Jeong, W. I., Hwang, G. S., Kang, K. W., Kim, J. W., Kim, W.,† Choi, M.†; Innovative Target Exploration of NAFLD (ITEN) consortium. Disease-specific eQTL screening reveals an anti-fibrotic effect of AGXT2 in non-alcoholic fatty liver disease. J Hepatol. (2021) 75:514-523.

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2020

• Seo, J.,* Byun, M. S.,* Yi, D., Lee, J. H., Jeon, S. Y., Shin, S. A., Kim, Y. K., Kang, K. M., Sohn, C. H., Jung, G., Park, J. C., Han, S. H., Byun, J., Mook-Jung, I., Lee, D. Y.,† Choi, M.†; KBASE Research Group. Genetic associations of in vivo pathology influence Alzheimer's disease susceptibility. Alzheimers Res Ther. (2020) 12:156.

• Seo, J.,* Lee, C. R.,* Paeng, J. C., Kwon, H. W., Lee, D., Kim, S. C., Han, J., Ku, J. L., Chae, J. H., Lim, B. C.,† Choi, M.† Biallelic mutations in ABCB1 display recurrent reversible encephalopathy. Ann Clin Transl Neurol. (2020) 7:1443-1449.

• Lee, Y.,* Park, S.,* Lee, J. S.,* Kim, S. Y., Cho, J., Yoo, Y., Lee, S., Yoo, T., Lee, M., Seo, J., Lee, J., Kneissl, J., Lee, J., Jeon, H., Jeon, E. Y., Hong, S. E., Kim, E., Kim, H., Kim, W. J., Kim, J. S., Ko, J. M., Cho, A., Lim, B. C., Kim, W. S., Choi, M.,† Chae, J. H.† Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population. Sci Rep. (2020) 10:1413.

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2019

• Shashi, V.,†* Geist, J.,* Lee, Y.,* Yoo, Y., Shin, U., Schoch, K., Sullivan, J., Stong, N., Smith, E., Jasien, J., Kranz, P.; Undiagnosed Diseases Network, Lee, Y., Shin, Y. B., Wright, N. T., Choi, M.,† Kontrogianni-Konstantopoulos, A.† Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. Hum Mutat. (2019) 40:1115-1126.

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2018

• Yoo, Y., Cho, J., Choi, M. Reply to “A novel mutation in the TM6 domain of GABBR2 leads to a Rett-Like phenotype”. Ann. Neurol. (2018) 83:439.

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2017

• Yoo, Y.,* Jung, J.,* Lee, Y. N., Lee, Y., Cho, H., Na, E., Hong, J., Kim, E., Lee, J. S., Lee, J. S., Hong, C., Park, S. Y., Wie, J., Miller, K., Shur, N., Clow, C., Ebel, R. S., DeBrosse, S. D., Henderson, L. B., Willaert, R., Castaldi, C., Tikhonova, I., Bilgüvar, K., Mane, S., Kim, K. J., Hwang, Y. S., Lee, S. G., So, I., Lim, B. C., Choi, H. J., Seong, J. Y., Shin, Y. B., Jung, H.,† Chae, J. H.,† Choi, M.† GABBR2 mutations determine phenotype in Rett syndrome and epileptic encephalopathy. Ann. Neurol. (2017) 82:466-478.

• Kang, H. G.,* Lee, M.,* Lee, K. B., Hughes, M., Kwon, B. S., Lee, S., McNagny, K. M., Ahn, Y. H., Ko, J. M., Ha, I.-S., Choi, M.,† Cheong, H. I.† Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome. Exp. Mol. Med. (2017) 49:e414.

• Lee, S.,* Seo, J.,* Park, J.,* Nam, J. Y.,* Choi, A., Ignatius, J. S., Bjornson, R. D., Chae, J. H., Jang, I. J., Lee, S., Park, W. Y., Baek, D.,† Choi, M.† Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population. Sci. Rep. (2017) 7:4287.

• Seo, J.,* Kang, J.-A.,* Suh, D. I.,* Park, E.-B., Lee, C.-R., Choi, S. A., Kim, S. Y., Kim, Y., Park, S. H., Kwon, S.-H., Park, J. D., Lim, B. C., Lee, D. H., Kang, S.-J., Choi, M.,† Park, S.-G.,† Chae, J.-H.† Tofacitinib relieves symptoms in STING-associated vasculopathy with onset in infancy caused by two de novo variants in TMEM173. J Allergy Clin. Immunol. (2017) 139:1396-1399.

• Choi, M.,* Kadara, H.,* Zhang, J.,* et al. Mutation profiles in early-stage lung squamous cell carcinoma with clinical follow-up and correlation with markers of immune function. Ann. Oncol. (2017) 28:83-89.

• Kadara, H.,* Choi, M.,* Zhang, J.,* et al. Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up. Ann. Oncol. (2017) 28:75-82.

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2016

• Lee, S.,* Moon, J. S.,* Lee, C-R.,* Kim, H-E., Baek, S-M., Hwang, S., Kang, G. H., Seo, J. K., Shin, C. H., Kang, H. J., Park, S. G.,† Ko, J. S.,† Choi, M.† A de novo variant in CTLA-4 confers responsiveness to abatacept in a patient with severe autoimmune features. J Allergy Clin. Immunol. (2016) 137:327-330.

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2015

• Lee, J. S.,* Lee, S.,* Lim, B. C., Kim, K. J., Hwang, Y. S., Choi, M.,† Chae, J. H.† Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation. Gene (2015) 569:318-22.

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Before SNU

• Zaidi, S.,* Choi, M.,* Wakimoto, H., Ma, L., Jiang, J., Overton, J. D., Romano-Adesman, A., Bjornson, R. D., Breitbart, R. E., Brown, K. K., Carriero, N. J., Cheung, Y. H., Deanfield, J., DePalma, S., Fakhro, K. A., Glessner, J., Hakonarson, H., Italia, M. J., Kaltman, J. R., Kaski, J., Kim, R., Kline, J. K., Lee, T., Leipzig, J., Lopez, A., Mane, S. M., Mitchell, L. E., Newburger, J. W., Parfenov, M., Pe'er, I., Porter, G., Roberts, A. E., Sachidanandam, R., Sanders, S. J., Seiden, H. S., State, M. W., Subramanian, S., Tikhonova, I. R., Wang, W., Warburton, D., White, P. S., Williams, I. A., Zhao, H., Seidman, J. G., Brueckner, M., Chung, W. K., Gelb, B. D., Goldmuntz, E., Seidman, C. E., Lifton, R. P. De novo mutations in histone modifying genes in congenital heart disease. Nature (2013) 498:220-223.

• Lo, S. M.*, Choi, M.*, Liu, J., Jain, D., Boot, R., Kallemeijn, W. W., Aerts, H., Pashankar, F., Kupfer, G., Mane, S., Lifton, R. P., Mistry, P. K. Phenotypic diversity in type 1 Gaucher disease: identification of a genetic modifier underlying Gaucher disease/hematological malignancy phenotype by whole exome capture massively parallel sequencing. Blood (2012) 119:4731-4740.

• Choi, M., Scholl, U. I., Yue, P., Björklund P., Zhao, B., Nelson-Williams, C., Ji, W., Cho, Y., Patel, A., Men, C. J., Lolis, E., Wisgerhof, M. V., Geller, D. S., Mane, S., Hellman, P., Westin, G., Åkerström, G., Wang, W., Carling, T., Lifton, R. P. K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science (2011) 331:768-772.

• Choi, M., Scholl, U. I., Ji, W., Liu, T., Tikhonova, I., Zumbo, P., Nayir, A., Bakkaloğlu, A., Özen, S., Sanjad, S., Nelson-Williams, C., Farhi, A., Mane, S., Lifton, R. P. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing Proc. Natl Acad. Sci. USA. (2009) 106:19096-19101.

• Choi, M., Klingensmith, J. Chordin is a modifier of Tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse. PLoS Genet. (2009) 5:e1000395.

• Choi, M., Stottmann, R. W., Yang, Y.-P., Meyers. E. N., Klingensmith, J. The bone morphogenetic protein antagonist Noggin regulates mammalian cardiac morphogenesis. Circ. Res. (2007) 100:220-228.

• Choi, M., Lee, H., and Rho, H. M. 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) 53:309-317.

• Choi, M., Kim, J. H., Lee, D. H., Lee, S. H., and Rho, H. M. Frequency data on four tetrameric STR loci D18S1270, D14S608, D16S3253 and D21S1437 in a Korean population. Int. J. Legal Med. (2000) 113:179-180.