Human Genetics Publicaitons
Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy
Renae Elaine Bertrand, Jun Wang, Kaitlyn H. Xiong, Chinthana Thangavel, Xinye Qian, Rola Ba-Abbad, Qingnan Liang, Renata T. Simões, Shirley A.M. Sampaio, Keren J. Carss, F. Lucy Raymond, Anthony G. Robson, Andrew R. Webster, Gavin Arno, Fernanda Belga Ottoni Porto, Rui Chen
Genetics in Medicine · 01 Mar 2021
A novel statistical method for interpreting the pathogenicity of rare variants
Jun Wang, Hehe Liu, Renae Elaine Bertrand, Alejandro Sarrion-Perdigones, Yezabel Gonzalez, Koen J.T. Venken, Rui Chen
Genetics in Medicine · 01 Jan 2021
GRIPT: a novel case-control analysis method for Mendelian disease gene discovery
Jun Wang, Li Zhao, Xia Wang, Yong Chen, Mingchu Xu, Zachry T. Soens, Zhongqi Ge, Peter Ronghan Wang, Fei Wang, Rui Chen
Genome Biology · 26 Nov 2018
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies
Mingchu Xu, Yajing (Angela) Xie, Hana Abouzeid, Christopher T. Gordon, Alessia Fiorentino, Zixi Sun, Anna Lehman, Ihab S. Osman, Rachayata Dharmat, Rosa Riveiro-Alvarez, Linda Bapst-Wicht, Darwin Babino, Gavin Arno, Virginia Busetto, Li Zhao, Hui Li, Miguel A. Lopez-Martinez, Liliana F. Azevedo, Laurence Hubert, Nikolas Pontikos, Aiden Eblimit, Isabel Lorda-Sanchez, Valeria Kheir, Vincent Plagnol, Myriam Oufadem, Zachry T. Soens, Lizhu Yang, Christine Bole-Feysot, Rolph Pfundt, Nathalie Allaman-Pillet, Patrick Nitschké, Michael E. Cheetham, Stanislas Lyonnet, Smriti A. Agrawal, Huajin Li, Gaëtan Pinton, Michel Michaelides, Claude Besmond, Yumei Li, Zhisheng Yuan, Johannes von Lintig, Andrew R. Webster, Hervé Le Hir, Peter Stoilov, Jeanne Amiel, Alison J. Hardcastle, Carmen Ayuso, Ruifang Sui, Rui Chen, Rando Allikmets, Daniel F. Schorderet, Graeme Black, Georgina Hall, Rachel Gillespie, Simon Ramsden, Forbes Manson, Panagiotis Sergouniotis, Chris Inglehearn, Carmel Toomes, Manir Ali, Martin McKibbin, James Poulter, Emma Lord, Andrea Nemeth, Stephanie Halford, Susan Downes, Jing Yu
The American Journal of Human Genetics · 01 Apr 2017
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
Gavin Arno, Smriti A. Agrawal, Aiden Eblimit, James Bellingham, Mingchu Xu, Feng Wang, Christina Chakarova, David A. Parfitt, Amelia Lane, Thomas Burgoyne, Sarah Hull, Keren J. Carss, Alessia Fiorentino, Matthew J. Hayes, Peter M. Munro, Ralph Nicols, Nikolas Pontikos, Graham E. Holder, Chinwe Asomugha, F. Lucy Raymond, Anthony T. Moore, Vincent Plagnol, Michel Michaelides, Alison J. Hardcastle, Yumei Li, Catherine Cukras, Andrew R. Webster, Michael E. Cheetham, Rui Chen, Graeme Black, Georgina Hall, Stuart Ingram, Rachel Gillespie, Forbes Manson, Panagiotis Sergouniotis, Chris Inglehearn, Carmel Toomes, Manir Ali, Martin McKibbin, James Poulter, Kamron Khan, Emma Lord, Andrea Nemeth, Susan Downes, Jing Yu, Stefano Lise, Gavin Arno, Alessia Fiorentino, Nikos Ponitkos, Vincent Plagnol, Michel Michaelides, Alison J. Hardcastle, Michael E. Cheetham, Andrew R. Webster, Veronica van Heyningen
The American Journal of Human Genetics · 01 Dec 2016
Single Cell Omics
Bi-order multimodal integration of single-cell data
Jinzhuang Dou, Shaoheng Liang, Vakul Mohanty, Qi Miao, Yuefan Huang, Qingnan Liang, Xuesen Cheng, Sangbae Kim, Jongsu Choi, Yumei Li, Li Li, May Daher, Rafet Basar, Katayoun Rezvani, Rui Chen, Ken Chen
Genome Biology · 09 May 2022
Single-cell transcriptomics identifies limbal stem cell population and cell types mapping its differentiation trajectory in limbal basal epithelium of human cornea
De-Quan Li, Sangbae Kim, Jin-Miao Li, Qianmiao Gao, Jongsu Choi, Fang Bian, Jiaoyue Hu, Yun Zhang, Jin Li, Rong Lu, Yumei Li, Stephen C. Pflugfelder, Hongyu Miao, Rui Chen
The Ocular Surface · 01 Apr 2021
Generation, transcriptome profiling, and functional validation of cone-rich human retinal organoids
Sangbae Kim, Albert Lowe, Rachayata Dharmat, Seunghoon Lee, Leah A. Owen, Jun Wang, Akbar Shakoor, Yumei Li, Denise J. Morgan, Andre A. Hejazi, Ales Cvekl, Margaret M. DeAngelis, Z. Jimmy Zhou, Rui Chen, Wei Liu
Proceedings of the National Academy of Sciences · 09 May 2019
Therapeutics
AAV8-Mediated Gene Therapy Rescues Retinal Degeneration Phenotype in a Tlcd3b Knockout Mouse Model
Xinye Qian, Hehe Liu, Shangyi Fu, Jiaxiong Lu, Yu-Ting Hung, Cassidy Turner, Haiwei Gu, Rui Chen
Investigative Opthalmology & Visual Science · 11 Mar 2022
Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice
Smriti Agrawal Zaneveld, Aiden Eblimit, Qingnan Liang, Renae Bertrand, Nathaniel Wu, Hehe Liu, Quynh Nguyen, Jacques Zaneveld, Keqing Wang, Yumei Li, Rui Chen
Human Gene Therapy · 01 Mar 2019
A nonhuman primate model of inherited retinal disease
Ala Moshiri, Rui Chen, Soohyun Kim, R. Alan Harris, Yumei Li, Muthuswamy Raveendran, Sarah Davis, Qingnan Liang, Ori Pomerantz, Jun Wang, Laura Garzel, Ashley Cameron, Glenn Yiu, J. Timothy Stout, Yijun Huang, Christopher J. Murphy, Jeffrey Roberts, Kota N. Gopalakrishna, Kimberly Boyd, Nikolai O. Artemyev, Jeffrey Rogers, Sara M. Thomasy
Journal of Clinical Investigation · 22 Jan 2019