Bellen Lab

Hyunglok Chung

Hyunglok Chung

BS, KAIST, Republic of Korea
PhD, KAIST, Republic of Korea (Kwang-Wook Choi)

Research Interests

I am part of the Undiagnosed Diseases Network (UDN) team, working towards unraveling the genetic and molecular basis for diseases caused by yet unknown mechanisms. As one of my projects, I am investigating the DMXL1 human gene and its variants identified by Whole-Genome Sequencing (WGS) in a UDN patient. I will determine the potential pathogenicity of DMXL1 variants found in the patient and explore the molecular functions of Rabconnectin-3a, the fly homologue.

In addition, as I am particularly interested in the genes associated with developmental signaling pathways such as Hippo (Hpo), Hedgehog (Hh) and Wingless (Wg), I will focus on the UDN cases relevant to these pathways. I am eager to discover the mechanisms by which the variants affect these developmental signaling pathways and mediate the pathogenesis of these rare human diseases.


Marcogliese PC*, Deal SL*, Andrews J*, Harnish JM*, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan H, Longley CM, Chao HT, Chung H, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, Gerard A, Schwaibold EMC, Guerrini R, Vetro A, England E, Murali CN, Barakat TS, van Dooren MF, Wilke M, van Slegtenhorst M, Lesca G, Sabatier I, Chatron N, Brownstein CA, Madden JA, Agrawal PB, Keller R, Pavinato L, Brusco A, Rosenfeld JA, Marom R, Wangler MF, Yamamoto S (2021) Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases. bioRxiv 424813: *Contributed equally. Download PDF.   
Mok JW, Chung HL , Choi KW (2020) Calx, a sodium/calcium exchanger, may affect lifespan in Drosophila melanogastermicroPublication Biology 10:17912.  [Abstract]
Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfels JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF, Undiagnosed Diseases Network, Chao HT, Long H, Feng L, Bacino CA, Bellen HJ, Xiao B (2020) De novo variants in CDK19 are associated with a new syndrome with intellectual disability and epileptic encephalopathy. American Journal of Human Genetics 106:717-725.  [Abstract]
Chung HL, Wangler MF, Marcogliese PC, Jo J, Ravenscroft TA, Zuo Z, Duraine L, Sadeghzadeh S, Li-Kroeger D, Schmidt RE, Pestronk A, Rosenfeld JA, Burrage L, Herndon MJ, Chen S, Undiagnosed Diseases Network, Shillington A, Vawter-Lee M, Hopkin R, Rodriguez-Smith J, Henrickson M, Lee B, Moser AB, Jones RO, Watkins P, Yoo T, Mar S, Choi M, Bucelli RC, Yamamoto S, Lee HK, Prada CE, Chae JH, Vogel TP, Bellen HJ (2020) Loss or gain of function mutations in ACOX1 cause axonal loss via different mechanisms. Neuron 106:589-606.  [Abstract]
Link N, Chung HL, Jolly A, Withers M, Tepe B, Arenkiel BR, Shah PS, Krogan NJ, Aydin H, Geckinli BB, Tos T, Isikay S, Tuysuz B, Mochida GH, Thomas AX, Clark RD, Mirzaa GM, Lupski JR, Bellen HJ (2019) Mutations in ANKLE2, a ZIKA virus target, disrupt an asymmetric cell division pathway in Drosophila neuroblasts to cause microcephaly. Developmental Cell 51:713-729.  [Abstract]
Kanca O, Zirin J, Garcia-Marques J, Knight SM, Yang-Zhou D, Amador G, Chung HL, Zuo Z, Ma L, He Y, Lin WW, Fang Y, Ge M, Yamamoto S, Schulze KL, Hu Y, Spradling AC, Mohr SE, Perrimon N, Bellen HJ (2019) An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms. eLife 8:e51539.  [Abstract]
Ansar M*, Chung HL*, Al-Otaibi A, Elagabani MN, Ravenscroft TA, Paracha SA, Scholz R, Abdel Magid T, Sarwar MT, Shah SF, Qaisar AA, Makrythanasis P, Marcogliese PC, Kamsteeg EJ, Falconnet E, Ranza E, Santoni FA, Aldhalaan H, Al-Asmari A, Faqeih EA, Ahmed J, Kornau HC, Bellen HJ, Antonarakis SE (2019) Bi-allelic variants in IQSEC1 cause intellectual disability, developmental delay and short stature. American Journal of Human Genetics 105:907-920. (*equal contribution) [Abstract]
Ansar M*, Chung HL*, Taylor RL, Nazir A, Imtiaz S, Sarwar MT, Manousopoulou A, Makrythanasis P, Saeed S, Falconnet E, Guipponi M, Pournaras CJ, Ansari MA, Ranza E, Santoni FA, Ahmed J, Shah I, Gul K, Black GC, Bellen HJ, Antonarakis SE (2018) Bi-allelic loss-of-function variants in DNMBP cause infantile cataracts. American Journal of Human Genetics 103:568-578. (*equal contribution) [Abstract]
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM (2018) IRF2BPL is associated with neurological phenotypes. American Journal of Human Genetics 103:245-260.  [Abstract]
Ansar M*, Chung HL*, Waryah YM, Makrythanasis P, Falconnet E, Rao AR, Guipponi M, Narsani AK, Fingerhut R, Santoni FA, Ranza E, Waryah AM, Bellen HJ, Antonarakis SE (2018) Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3Human Molecular Genetics 27:2703-2711. (*equal contribution) [Abstract]
Chung HL, Choi KW (2016) Schip1, a new upstream regulator of Hippo signaling. Cell Cycle 15:2097-2098.  [Abstract]
Chung HL, Augustine GJ, Choi KW (2016) Drosophila Schip1 links Expanded and Tao-1 to regulate Hippo signaling. Developmental Cell 36:511-524.  [Abstract]

Last Modified 3-31-21 by Jodie Hebert

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