Marcogliese, Paul C.; Deal, Samantha L.; Andrews, Jonathan; Harnish, J. Michael; Bhavana, V. Hemanjani; Graves, Hillary K.; Jangam, Sharayu; Luo, Xi; Liu, Ning; Bei, Danqing; Yu-Hsin Chao; Hull, Brooke; Pei-Tseng Lee; Pan, Hongling; Bhadane, Pradnya; Mei-Chu Huang; Longley, Colleen M.; Hsiao-Tuan Chao; Hyung-lok Chung; Haelterman, Nele A.; Kanca, Oguz; Manivannan, Sathiya N.; Rossetti, Linda Z.; German, Ryan J.; Gerard, Amanda; Schwaibold, Eva Maria Christina; Fehr, Sarah; Guerrini, Renzo; Vetro, Annalisa; England, Eleina; Murali, Chaya N.; Barakat, Tahsin Stefan; van Dooren, Marieke F.; Wilke, Martina; van Slegtenhorst, Marjon; Lesca, Gaetan; Sabatier, Isabelle; Chatron, Nicolas; Brownstein, Catherine A.; Madden, Jill A.; Agrawal, Pankaj B.; Keren, Boris; Courtin, Thomas; Perrin, Laurence; Brugger, Melanie; Roser, Timo; Leiz, Steffen; Mau-Them, Frederic Tran; Delanne, Julian; Sukarova-Angelovska, Elena; Trajkova, Slavica; Rosenhahn, Erik; Strehlow, Vincent; Platzer, Konrad; Keller, Roberto; Pavinato, Lisa; Brusco, Alfredo; Rosenfeld, Jill A.; Marom, Ronit; Wangler, Michael F.; Yamamoto, Shinya

Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling

SCIENCE ADVANCES

IF12.5

2022-01-2118

OAAI

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies

De novo FZR1功能丧失变体导致发育性和癫痫性脑病

BRAIN

IF11.7

2021-11-116

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

NEURON

IF15

2020-05-0175

OAAI

Chung, Hyung-lok; Wangler, Michael F.; Marcogliese, Paul C.; Jo, Juyeon; Ravenscroft, Thomas A.; Zuo, Zhongyuan; Duraine, Lita; Sadeghzadeh, Sina; Li-Kroeger, David; Schmidt, Robert E.; Pestronk, Alan; Rosenfeld, Jill A.; Burrage, Lindsay; Herndon, Mitchell J.; Chen, Shan; Shillington, Amelle; Vawter-Lee, Marissa; Hopkin, Robert; Rodriguez-Smith, Jackeline; Henrickson, Michael; Lee, Brendan; Moser, Ann B.; Jones, Richard O.; Watkins, Paul; Yoo, Taekyeong; Mar, Soe; Choi, Murim; Bucelli, Robert C.; Yamamoto, Shinya; Lee, Hyun Kyoung; Prada, Carlos E.; Chae, Jong-Hee; Vogel, Tiphanie P.; Bellen, Hugo J.

De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2020-05-0134

OAAI

Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly

DEVELOPMENTAL CELL

IF8.7

2019-12-0174

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-11-0124

OAAI

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2018-10-0128

OAAI

IRF2BPL Is Associated with Neurological Phenotypes (vol 103, pg 245, 2018)

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2018-09-0121

OAAI

Marcogliese, Paul C.; Shashi, Vandana; Spillmann, Rebecca C.; Stong, Nicholas; Rosenfeld, Jill A.; Koenig, Mary Kay; Martinez-Agosto, Julia A.; Herzog, Matthew; Chen, Agnes H.; Dickson, Patricia I.; Lin, Henry J.; Vera, Moin U.; Salamon, Noriko; Graham, John M., Jr.; Ortiz, Damara; Infante, Elena; Steyaert, Wouter; Dermaut, Bart; Poppe, Bruce; Chung, Hyung-Lok; Zuo, Zhongyuan; Lee, Pei-Tseng; Kanca, Oguz; Xia, Fan; Yang, Yaping; Smith, Edward C.; Jasien, Joan; Kansagra, Sujay; Spiridigliozzi, Gail; El-Dairi, Mays; Lark, Robert; Riley, Kacie; Koeberl, Dwight D.; Golden-Grant, Katie; Yamamoto, Shinya; Wangler, Michael F.; Mirzaa, Ghayda; Hemelsoet, Dimitri; Lee, Brendan; Nelson, Stanley F.; Goldstein, David B.; Bellen, Hugo J.; Pena, Loren D. M.

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

HUMAN MOLECULAR GENETICS

IF3.2

2018-05-1622

OAAI

Use of whole-exome sequencing to determine the genetic basis of signs of skin youthfulness in Korean women

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

IF8

2016-08-301

PREAI

Hyung-Lok Chung

个人简介

教育背景

工作经历

荣誉奖项

研究方向