Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa G Arno, SA Agrawal, A Eblimit, J Bellingham, M Xu, F Wang, C Chakarova, ... The American Journal of Human Genetics 99 (6), 1305-1315, 2016 | 132 | 2016 |
Next-Generation Sequencing and Novel Variant Determination in a Cohort of 92 Familial Exudative Vitreoretinopathy Patients J Salvo, V Lyubasyuk, M Xu, H Wang, F Wang, D Nguyen, K Wang, H Luo, ... Investigative ophthalmology & visual science 56 (3), 1937-1946, 2015 | 115 | 2015 |
Mutations in human IFT140 cause non-syndromic retinal degeneration M Xu, L Yang, F Wang, H Li, X Wang, W Wang, Z Ge, K Wang, L Zhao, ... Human genetics 134, 1069-1078, 2015 | 83 | 2015 |
Prognostic role of systemic inflammatory response in renal cell carcinoma: a systematic review and meta-analysis Y Wu, X Fu, X Zhu, X He, C Zou, Y Han, M Xu, C Huang, X Lu, Y Zhao Journal of cancer research and clinical oncology 137, 887-896, 2011 | 80 | 2011 |
Structure-function analysis reveals a novel mechanism for regulation of histone demethylase LSD2/AOF1/KDM1b Q Zhang, S Qi, M Xu, L Yu, Y Tao, Z Deng, W Wu, J Li, Z Chen, J Wong Cell research 23 (2), 225-241, 2013 | 76 | 2013 |
Comparison and quantitative verification of mapping algorithms for whole-genome bisulfite sequencing G Kunde-Ramamoorthy, C Coarfa, E Laritsky, NJ Kessler, RA Harris, ... Nucleic acids research 42 (6), e43-e43, 2014 | 72 | 2014 |
Mutations in the spliceosome component CWC27 cause retinal degeneration with or without additional developmental anomalies M Xu, YA Xie, H Abouzeid, CT Gordon, A Fiorentino, Z Sun, A Lehman, ... The American Journal of Human Genetics 100 (4), 592-604, 2017 | 71 | 2017 |
SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data Y Chen, L Zhao, Y Wang, M Cao, V Gelowani, M Xu, SA Agrawal, Y Li, ... BMC bioinformatics 18, 1-9, 2017 | 59 | 2017 |
ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement M Xu, V Gelowani, A Eblimit, F Wang, MP Young, BL Sawyer, L Zhao, ... Investigative ophthalmology & visual science 56 (6), 3889-3895, 2015 | 59 | 2015 |
Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands Q Zhang, M Xu, JD Verriotto, Y Li, H Wang, L Gan, BL Lam, R Chen Scientific reports 6 (1), 32792, 2016 | 54 | 2016 |
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination F Coppieters, G Ascari, K Dannhausen, K Nikopoulos, F Peelman, ... The American Journal of Human Genetics 99 (2), 470-480, 2016 | 50 | 2016 |
Genomic analysis defines clonal relationships of ductal carcinoma in situ and recurrent invasive breast cancer EH Lips, T Kumar, A Megalios, LL Visser, M Sheinman, A Fortunato, ... Nature genetics 54 (6), 850-860, 2022 | 49 | 2022 |
ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa M Xu, A Eblimit, J Wang, J Li, F Wang, L Zhao, X Wang, N Xiao, Y Li, ... Human mutation 37 (3), 246-249, 2016 | 49 | 2016 |
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa M Xu, T Yamada, Z Sun, A Eblimit, I Lopez, F Wang, H Manya, S Xu, ... Human molecular genetics 25 (8), 1479-1488, 2016 | 49 | 2016 |
CEP78 is mutated in a distinct type of Usher syndrome Q Fu, M Xu, X Chen, X Sheng, Z Yuan, Y Liu, H Li, Z Sun, H Li, L Yang, ... Journal of medical genetics 54 (3), 190-195, 2017 | 48 | 2017 |
REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking SA Agrawal, T Burgoyne, A Eblimit, J Bellingham, DA Parfitt, A Lane, ... Human molecular genetics 26 (14), 2667-2677, 2017 | 41 | 2017 |
A novel dominant mutation in SAG, the arrestin-1 gene, is a common cause of retinitis pigmentosa in Hispanic families in the Southwestern United States LS Sullivan, SJ Bowne, DC Koboldt, EL Cadena, JR Heckenlively, ... Investigative ophthalmology & visual science 58 (5), 2774-2784, 2017 | 37 | 2017 |
Diagnosis of a mild peroxisomal phenotype with next-generation sequencing MJ Ventura, D Wheaton, M Xu, D Birch, SJ Bowne, LS Sullivan, SP Daiger, ... Molecular Genetics and Metabolism Reports 9, 75-78, 2016 | 37 | 2016 |
A Missense Mutation in HK1 Leads to Autosomal Dominant Retinitis Pigmentosa F Wang, Y Wang, B Zhang, L Zhao, V Lyubasyuk, K Wang, M Xu, Y Li, ... Investigative ophthalmology & visual science 55 (11), 7159, 2014 | 37 | 2014 |
Folic acid exerts antidepressant effects by upregulating brain-derived neurotrophic factor and glutamate receptor 1 expression in brain L Gao, X Liu, L Yu, J Wu, M Xu, Y Liu NeuroReport 28 (16), 1078-1084, 2017 | 34 | 2017 |