Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study S Petrovski, V Aggarwal, JL Giordano, M Stosic, K Wou, L Bier, E Spiegel, ... The Lancet 393 (10173), 758-767, 2019 | 495 | 2019 |
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios X Zhu, S Petrovski, P Xie, EK Ruzzo, YF Lu, K McSweeney, B Ben-Zeev, ... Genetics in Medicine 17 (10), 774-781, 2015 | 362 | 2015 |
An evaluation of copy number variation detection tools from whole‐exome sequencing data R Tan, Y Wang, SE Kleinstein, Y Liu, X Zhu, H Guo, Q Jiang, AS Allen, ... Human mutation 35 (7), 899-907, 2014 | 264 | 2014 |
One gene, many neuropsychiatric disorders: lessons from Mendelian diseases X Zhu, AC Need, S Petrovski, DB Goldstein Nature neuroscience 17 (6), 773-781, 2014 | 194 | 2014 |
Advanced research on risk factors of type 2 diabetes Y Bi, T Wang, M Xu, Y Xu, M Li, J Lu, X Zhu, G Ning Diabetes/metabolism research and reviews 28, 32-39, 2012 | 163 | 2012 |
Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures S Petrovski, S Küry, CT Myers, K Anyane-Yeboa, B Cogné, M Bialer, F Xia, ... The American Journal of Human Genetics 98 (5), 1001-1010, 2016 | 120 | 2016 |
Combined effects of 19 common variations on type 2 diabetes in Chinese: results from two community-based studies M Xu, Y Bi, Y Xu, B Yu, Y Huang, L Gu, Y Wu, X Zhu, M Li, T Wang, ... PLoS one 5 (11), e14022, 2010 | 101 | 2010 |
A genome-wide association study confirms previously reported loci for type 2 diabetes in Han Chinese B Cui, X Zhu, M Xu, T Guo, D Zhu, G Chen, X Li, L Xu, Y Bi, Y Chen, Y Xu, ... PloS one 6 (7), e22353, 2011 | 85 | 2011 |
Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin G Heimer, E Eyal, X Zhu, EK Ruzzo, D Marek-Yagel, D Sagiv, Y Anikster, ... european journal of paediatric neurology 22 (1), 93-101, 2018 | 51 | 2018 |
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia EL Heinzen, AC O'Neill, X Zhu, AS Allen, M Bahlo, J Chelly, MH Chen, ... PLoS genetics 14 (5), e1007281, 2018 | 49 | 2018 |
A gradient-boosting approach for filtering de novo mutations in parent–offspring trios Y Liu, B Li, R Tan, X Zhu, Y Wang Bioinformatics 30 (13), 1830-1836, 2014 | 41 | 2014 |
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations X Zhu, R Padmanabhan, B Copeland, J Bridgers, Z Ren, S Kamalakaran, ... PLoS genetics 13 (11), e1007104, 2017 | 31 | 2017 |
Sensitivity of whole exome sequencing in detecting infantile-and late-onset Pompe disease M Mori, G Haskell, Z Kazi, X Zhu, SM DeArmey, JL Goldstein, D Bali, ... Molecular genetics and metabolism 122 (4), 189-197, 2017 | 24 | 2017 |
Impaired lung function is associated with increased carotid intima-media thickness in middle-aged and elderly Chinese Z Ma, Y Liu, Y Xu, Y Huang, M Xu, X Zhu, H Zhang, B Xu, F Huang, ... PLoS One 8 (2), e53153, 2013 | 20 | 2013 |
Joint detection of copy number variations in parent-offspring trios Y Liu, J Liu, J Lu, J Peng, L Juan, X Zhu, B Li, Y Wang Bioinformatics 32 (8), 1130-1137, 2016 | 19 | 2016 |
The genomic and epigenomic landscape of double-negative metastatic prostate cancer A Lundberg, M Zhang, R Aggarwal, H Li, L Zhang, A Foye, M Sjöström, ... Cancer Research 83 (16), 2763-2774, 2023 | 10 | 2023 |
New insights into tardive dyskinesia genetics: Implementation of whole-exome sequencing approach A Alkelai, L Greenbaum, EL Heinzen, EH Baugh, A Teitelbaum, X Zhu, ... Progress in Neuro-Psychopharmacology and Biological Psychiatry 94, 109659, 2019 | 10 | 2019 |
De-novo mutations in patients with chronic ultra-refractory epilepsy with onset after age five years M McCormack, RN McGinty, X Zhu, L Slattery, EL Heinzen, DJ Costello, ... European journal of medical genetics 63 (1), 103625, 2020 | 9 | 2020 |
University of Washington Center for Mendelian G S Petrovski, S Kury, CT Myers, K Anyane-Yeboa, B Cogne, M Bialer, F Xia, ... Rosen ABI, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X …, 2016 | 7 | 2016 |
Impact of squamous histology on clinical outcomes and molecular profiling in metastatic urothelial carcinoma patients treated with immune checkpoint inhibitors or enfortumab … T Jindal, L Zhang, P Deshmukh, K Reyes, E Chan, V Kumar, X Zhu, ... Clinical Genitourinary Cancer 21 (5), e394-e404, 2023 | 4 | 2023 |