Hyunglok Chung

Hyunglok Chung

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.


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]