| Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1 Z Cen, Z Jiang, Y Chen, X Zheng, F Xie, X Yang, X Lu, Z Ouyang, H Wu, ... Brain 141 (8), 2280-2288, 2018 | 90 | 2018 |
| Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification Z Cen, Y Chen, S Chen, H Wang, D Yang, H Zhang, H Wu, L Wang, ... Brain 143 (2), 491-502, 2020 | 75 | 2020 |
| LRP10 in autosomal‐dominant Parkinson's disease Y Chen, Z Cen, X Zheng, Q Pan, X Chen, L Zhu, S Chen, H Wu, F Xie, ... Movement Disorders 34 (6), 912-916, 2019 | 27 | 2019 |
| Evaluation of MYORG mutations as a novel cause of primary familial brain calcification Y Chen, F Fu, S Chen, Z Cen, H Tang, J Huang, F Xie, X Zheng, D Yang, ... Movement Disorders 34 (2), 291-297, 2019 | 27 | 2019 |
| A 3D structural SARS-CoV-2–human interactome to explore genetic and drug perturbations SD Wierbowski, S Liang, Y Liu, Y Chen, S Gupta, NM Andre, SM Lipkin, ... Nature methods 18 (12), 1477-1488, 2021 | 26 | 2021 |
| Dramatic response to pyridoxine in a girl with absence epilepsy with ataxia caused by a de novo CACNA1A mutation X Du, Y Chen, Y Zhao, W Luo, Z Cen, W Hao Seizure-European Journal of Epilepsy 45, 189-191, 2017 | 26 | 2017 |
| Intronic (TTTGA)n insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy Z Cen, Y Chen, D Yang, Q Zhu, S Chen, X Chen, B Wang, F Xie, ... Movement Disorders 34 (10), 1571-1576, 2019 | 24 | 2019 |
| MYORG Mutation Heterozygosity Is Associated With Brain Calcification Y Chen, Z Cen, X Chen, H Wang, S Chen, D Yang, F Fu, L Wang, P Liu, ... Movement Disorders 35 (4), 679-686, 2020 | 13 | 2020 |
| A novel homozygous CAPN1 pathogenic variant in a Chinese patient with pure hereditary spastic paraplegia Y Chen, Z Cen, X Zheng, F Xie, S Chen, W Luo Journal of Clinical Neurology 15 (2), 271-272, 2019 | 7 | 2019 |
| Finding Needles in the Haystack: Strategies for Uncovering Noncoding Regulatory Variants Y Chen, MI Paramo, Y Zhang, L Yao, SR Shah, Y Jin, J Zhang, X Pan, ... Annual Review of Genetics 57, 201-222, 2023 | | 2023 |
| Advancing discovery of risk-altering variants for complex diseases by functionally informed fine-mapping Y Chen, AG Clark, H Yu Neuron 110 (6), 905-907, 2022 | | 2022 |
