| Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing J O'Rawe, T Jiang, G Sun, Y Wu, W Wang, J Hu, P Bodily, L Tian, ... Genome medicine 5, 1-18, 2013 | 541 | 2013 |
| Accurate de novo and transmitted indel detection in exome-capture data using microassembly G Narzisi, JA O'rawe, I Iossifov, H Fang, Y Lee, Z Wang, Y Wu, GJ Lyon, ... Nature methods 11 (10), 1033-1036, 2014 | 239 | 2014 |
| Reducing INDEL calling errors in whole genome and exome sequencing data H Fang, Y Wu, G Narzisi, JA ORawe, LTJ Barrón, J Rosenbaum, ... Genome medicine 6, 1-17, 2014 | 197 | 2014 |
| TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations JA O’Rawe, Y Wu, MJ Dörfel, AF Rope, PYB Au, JS Parboosingh, S Moon, ... The American Journal of Human Genetics 97 (6), 922-932, 2015 | 128 | 2015 |
| Indel variant analysis of short-read sequencing data with Scalpel H Fang, EA Bergmann, K Arora, V Vacic, MC Zody, I Iossifov, JA O'rawe, ... Nature protocols 11 (12), 2529-2548, 2016 | 118 | 2016 |
| Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects LM Myklebust, P Van Damme, SI Støve, MJ Dörfel, A Abboud, TV Kalvik, ... Human molecular genetics 24 (7), 1956-1976, 2015 | 118 | 2015 |
| NAA10-related syndrome Y Wu, GJ Lyon Experimental & Molecular Medicine 50 (7), 1-10, 2018 | 49 | 2018 |
| Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta L Li, B Mao, S Li, J Xiao, H Wang, J Zhang, X Ren, Y Wang, Y Wu, Y Cao, ... Human Mutation 40 (5), 588-600, 2019 | 36 | 2019 |
| Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine H Fang, Y Wu, H Yang, M Yoon, LT Jiménez-Barrón, D Mittelman, ... BMC medical genomics 10, 1-16, 2017 | 20 | 2017 |
| Are CAR-T therapies living up to their hype? A study using real-world data in two cohorts to determine how well they are actually working in practice compared with bone marrow … D Schulthess, D Gassull, A Makady, A Ludlow, B Rothman, P Ten Have, ... BMJ Evidence-Based Medicine 26 (3), 98-102, 2021 | 16 | 2021 |
| Derivation and validation of the ED-SAS score for very early prediction of mortality and morbidity with acute pancreatitis: a retrospective observational study J Miller, Y Wu, R Safa, G Marusca, S Bhatti, G Ahluwalia, J Dandashi, ... BMC emergency medicine 21, 1-7, 2021 | 12 | 2021 |
| Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Med J O’Rawe, T Jiang, G Sun, Y Wu, W Wang, J Hu, P Bodily, LF Tian, ... BioMed Central Ltd 5, 28, 2013 | 10 | 2013 |
| Congenital syndromes involving the lungs: Pathogenetic models based on Chinese medicine theories J Li-Ling, Y Wu The Journal of Alternative and Complementary Medicine 14 (8), 1017-1025, 2008 | 10 | 2008 |
| Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline LT Jiménez-Barrón, JA O'Rawe, Y Wu, M Yoon, H Fang, I Iossifov, ... Molecular Case Studies 1 (1), a000422, 2015 | 9 | 2015 |
| A variant in TAF1 is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features J Ou’Rawe, Y Wu, A Rope, LT Jimenez Barrón, J Swensen, H Fang, ... bioRxiv, 014050, 2015 | 7 | 2015 |
| Conserved cell-type specific signature of resilience to Alzheimer’s disease nominates role for excitatory intratelencephalic cortical neurons MA Telpoukhovskaia, N Hadad, B Gurdon, Y Dai, AR Ouellette, ... bioRxiv, 2022.04. 12.487877, 2022 | 6 | 2022 |
| Spectrum of COL1A1/2 mutations and gene diagnosis in Chinese patients with osteogenesis imperfecta X Zhao, J Xiao, H Wang, X Ren, J Gao, Y Wu, C Lu, X Zhang Zhonghua yi xue za zhi 95 (43), 3484-3489, 2015 | 3 | 2015 |
| Studying Long QT Syndrome Caused by NAA10 Genetic Variants Using Patient-Derived Induced Pluripotent Stem Cells N Belbachir, Y Wu, M Shen, SL Zhang, JZ Zhang, C Liu, BC Knollmann, ... Circulation 148 (20), 1598-1601, 2023 | 2 | 2023 |
| 475: Emergency department spo2, age, and sirs (ed-sas) score predicts mortality in acute pancreatitis G Ahluwalia, Y Wu, H Gomez, N Farook, A Scott, V Nair, H Mohammed, ... Critical Care Medicine 48 (1), 218, 2020 | 2 | 2020 |
| Toward Precision Medicine: From Clinical Genomics to iPSC Disease Modeling Y Wu State University of New York at Stony Brook, 2017 | 2 | 2017 |
Gholson LyonInstitute for Basic Research in Developmental Disabilities在 opwdd.ny.gov 的电子邮件经过验证
