Published discoveries
Our peer-reviewed research, reviews, and conference contributions. Publications are grouped by year and type; conference abstracts are listed separately from journal articles.
Hyung-Lok Chung is shown in bold and underlined. * Co-first author; # corresponding or co-corresponding author. Symbols indicate Chung’s role.
2026
Peer-Reviewed Original Research
Identification of novel CDK19 variants and Drosophila-based in vivo functional evidence supporting pathogenicity in neurodevelopmental disorders
2026 · Genetics in Medicine. Published online October 1, 2026; article 102735.
Authors & contributors
Koh HY, Sahu RK, Kim SD, Tanaka T, Grewal KS, Liao JZ, Shim YK, Garg R, Krey I, Bothe V, Szczałuba K, Fosbinder E, Patat O, Lines MA, Leeuwen L, Frazier L, Hannibal M, Starks C, Verheyen EM, Zarate YA, Chung HL#
DDX23 gain-of-function linked to autism spectrum disorder with intellectual disability, motor delay, and seizure
2026 · Genetics in Medicine Open 4:104484.
Authors & contributors
Sahu RK, Bird LM, Geltzeiler AR, Vasudevan P, Vargas M, Crabb B, Ruedy J, Chung WK, Chung HL#
Hippo signaling regulates cuticle pigmentation and dopamine metabolism in Drosophila
2026 · PLOS Genetics 22(8):e1012260.
Authors & contributors
Gibson SB, Deal SL, Park YJ, Sun B, Qi Y, Mok JW, Chung HL, Li H, Yamamoto S
Loss-of-function variants in MARK2 cause neurodevelopmental disorder
2026 · HGG Advances 7(3):100600.
Authors & contributors
Yang Y, Shim YK, Miyake N, Takada S, Silva S, Peters-Foitzick A, Gupta AR, Neuhaus E, Bradley C, Taylor C, Russell B, Shrewsbury A, Michaelson JJ, Murali CN, Gerard A, Geltzeiler A, Chung WK, Chung HL#
Genetic analysis of the X-linked adrenoleukodystrophy gene ABCD1 in Drosophila uncovers a conserved phenotype
2026 · Communications Biology 9(1):944.
Authors & contributors
Manor J, Jangam SV, Chung HL, Bhagwat P, Andrews JC, Chester H, Kondo S, Srivastav S, Botas J, Moser AB, Huguenin SM, Wangler MF
ASAH2 deficiency affects sphingolipid homeostasis and neuromotor control, causing a progressive neurological disorder
2026 · HGG Advances 7(2):100587.
Authors & contributors
Scala M, Sahu RK, Severino M, Traverso M, Iacomino M, Pedemonte M, Santorelli F, Tozza S, Zara F, Fiorillo C, Chung HL#
Reviews and Commentaries
From lipid function to dysfunction: Very long-chain fatty acids as emerging regulators of neuroinflammatory pathways
2026 · iScience 29(2):114724.
Authors & contributors
Sahu RK, Yang Y, Chung HL#
Conference Abstracts
Integrative Genomic and Functional Analyses of CDK19 Variants Illuminate Translational Mechanisms of Early-onset Epilepsy, Infantile Spasm, and Neurodevelopmental Delay
2026 · American Academy of Neurology Annual Meeting. Conference abstract.
Authors & contributors
Koh HY, Chung HL
2025
Reviews and Commentaries
Exploiting fly models to investigate rare human neurological disorders
2025 · Neural Regeneration Research 20(1):21-28.
Authors & contributors
Tanaka T, Chung HL#
Conference Abstracts
Functional impact and phenotypic spectrum of CDK19 variants in neurodevelopmental disorders: insights from clinical data and in vivo modeling
2025 · American Society of Human Genetics Annual Meeting. Poster abstract. Poster 7078W; Reviewers’ Choice Poster.
Authors & contributors
Koh HY, Sahu RK, Tanaka T, Chung HL
2024
Peer-Reviewed Original Research
Cdk8/CDK19 promotes mitochondrial fission through Drp1 phosphorylation and can phenotypically suppress pink1 deficiency in Drosophila
2024 · Nature Communications 15(1):3326.
Authors & contributors
Liao JZ, Chung HL*, Shih C, Wong KKL, Dutta D, Nil Z, Burns CG, Kanca O, Park YJ, Zuo Z, Marcogliese PC, Sew K, Bellen HJ, Verheyen EM
2023
Peer-Reviewed Original Research
Very-long-chain fatty acids induce glial-derived sphingosine-1-phosphate synthesis, secretion, and neuroinflammation
2023 · Cell Metabolism 35(5):855-874.e5.
Authors & contributors
Chung HL*#, Ye Q, Park YJ, Zuo Z, Mok JW, Kanca O, Tattikota SG, Lu S, Perrimon N, Lee HK, Bellen HJ
The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival
2023 · Human Molecular Genetics 32(6):984-997.
Authors & contributors
Ma M, Zhang X, Zheng Y, Lu S, Pan X, Mao X, Pan H, Chung HL, Wang H, Guo H, Bellen HJ
2022
Peer-Reviewed Original Research
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila
2022 · Human Molecular Genetics 31(19):3231-3244.
Authors & contributors
Chung HL, Rump P, Lu D, Glassford MR, Mok JW, Fatih J, Basal A, Marcogliese PC, Kanca O, Rapp M, Fock JM, Kamsteeg EJ, Lupski JR, Larson A, Haninbal MC, Bellen H, Harel T
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies
2022 · Brain 145(5):1684-1697.
Authors & contributors
Manivannan SN, Roovers J, Smal N, Myers CT, Turkdogan D, Roelens F, Kanca O, Chung HL, Scholz T, Hermann K, Bierhals T, Caglayan HS, Stamberger H, MAE Working Group of EuroEPINOMICS RES Consortium, Mefford H, de Jonghe P, Yamamoto S, Weckhuysen S, Bellen HJ
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures
2022 · American Journal of Human Genetics 109(4):571-586.
Authors & contributors
Lu S, Hernan R, Marcogliese PC, Huang Y, Gertler TS, Akcaboy M, Liu S, Chung HL, Pan X, Sun X, Oguz MM, Oztoprak U, de Baaij JHF, Ivanisevic J, McGinnis E, Guillen Sacoto MJ, Chung WK, Bellen HJ
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
2022 · Cell Reports 38(11):110517.
Authors & contributors
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, Bhadane P, Huang MC, Longley CM, Chao HT, Chung HL, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, German RJ, Gerard A, Schwaibold EMC, Fehr S, 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, Keren B, Courtin T, Perrin L, Brugger M, Roser T, Leiz S, Mau-Them FT, Delanne J, Sukarova-Angelovska E, Trajkova S, Rosenhahn E, Strehlow V, Platzer K, Keller R, Pavinato L, Brusco A, Rosenfeld JA, Marom R, Wangler MF, Yamamoto S
Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling
2022 · Science Advances 8(3):eabl5613.
Authors & contributors
Marcogliese PC, Dutta D, Ray SS, Dang NDP, Zuo Z, Wang Y, Lu D, Fazal F, Ravenscroft TA, Chung HL, Kanca O, Wan J, Douine ED, Undiagnosed Diseases Network, Pena LDM, Yamamoto S, Nelson SF, Might M, Meyer KC, Yeo NC, Bellen HJ
2021
Peer-Reviewed Original Research
Phosphatidylserine synthase plays an essential role in glia and affects development, as well as the maintenance of neuronal function
2021 · iScience 24(8):102899.
Authors & contributors
Park YJ, Kim S, Shim HP, Park JH, Lee G, Kim TY, Jo MC, Kwon AY, Lee M, Lee S, Yeo J, Chung HL, Bellen HJ, Kwon SH, Jeon SH
Reviews and Commentaries
ABCD1 and X-linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models
2021 · Journal of Neuroscience Research 99(12):3170-3181.
Authors & contributors
Manor J, Chung HL, Bhagwat PK, Wangler MF
2020
Peer-Reviewed Original Research
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms
2020 · Neuron 106(4):589-606.e6.
Authors & contributors
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, Members of 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
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy
2020 · American Journal of Human Genetics 106(5):717-725.
Authors & contributors
Chung HL*, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfeld 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
Calx, a sodium/calcium exchanger, may affect lifespan in Drosophila melanogaster
2020 · microPublication Biology 2020.
Authors & contributors
Mok JW, Chung HL, Choi KW
2019
Peer-Reviewed Original Research
Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly
2019 · Developmental Cell 51(6):713-729.e6.
Authors & contributors
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
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature
2019 · American Journal of Human Genetics 105(5):907-920.
Authors & contributors
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
An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms
2019 · eLife 8:e51539.
Authors & contributors
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
2018
Peer-Reviewed Original Research
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts
2018 · American Journal of Human Genetics 103(4):568-578.
Authors & contributors
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
IRF2BPL Is Associated with Neurological Phenotypes
2018 · American Journal of Human Genetics 103(2):245-260.
Authors & contributors
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
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3
2018 · Human Molecular Genetics 27(15):2703-2711.
Authors & contributors
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
2016
Peer-Reviewed Original Research
Drosophila Schip1 Links Expanded and Tao-1 to Regulate Hippo Signaling
2016 · Developmental Cell 36(5):511-524.
Authors & contributors
Chung HL, Augustine GJ, Choi KW
Reviews and Commentaries
Schip1, a new upstream regulator of Hippo signaling
2016 · Cell Cycle 15(16):2097-2098.
Authors & contributors
Chung HL, Choi KW