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#

DOI: 10.1016/j.gim.2026.102735 | PMID: 42820262

Reviews and Commentaries

Conference Abstracts

2025

Reviews and Commentaries

Conference Abstracts

2024

Peer-Reviewed Original Research

2023

Peer-Reviewed Original Research

2022

Peer-Reviewed Original Research

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

DOI: 10.1016/j.celrep.2022.110517 | PMID: 35294868

2021

Peer-Reviewed Original Research

Reviews and Commentaries

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

DOI: 10.1016/j.neuron.2020.02.021 | PMID: 32169171

2019

Peer-Reviewed Original Research

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

DOI: 10.1016/j.ajhg.2019.09.013 | PMID: 31607425

2018

Peer-Reviewed Original Research

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

DOI: 10.1016/j.ajhg.2018.07.006 | PMID: 30057031

2016

Peer-Reviewed Original Research

Reviews and Commentaries

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