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Mingchu Xu
Mingchu Xu
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Year
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
1302016
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
1152015
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
832015
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
792011
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
752013
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
732014
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
702017
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
592015
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
572017
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
542016
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
492016
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
482016
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
472016
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
452017
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
422022
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
412017
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
372017
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
352016
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
352014
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
332017
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