| Genetic variants near TIMP3 and high-density lipoprotein–associated loci influence susceptibility to age-related macular degeneration W Chen, D Stambolian, AO Edwards, KE Branham, M Othman, ... Proceedings of the National Academy of Sciences 107 (16), 7401-7406, 2010 | 622 | 2010 |
| 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 | 560 | 2013 |
| Distinct features of SARS-CoV-2-specific IgA response in COVID-19 patients H Yu, B Sun, Z Fang, J Zhao, X Liu, Y Li, X Sun, H Liang, B Zhong, ... European Respiratory Journal, 2020 | 378 | 2020 |
| Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis JA Martignetti, L Tian, D Li, MCM Ramirez, O Camacho-Vanegas, ... The American Journal of Human Genetics 92 (6), 1001-1007, 2013 | 208 | 2013 |
| ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor D Li, ME March, A Gutierrez-Uzquiza, C Kao, C Seiler, E Pinto, ... Nature medicine 25 (7), 1116-1122, 2019 | 194 | 2019 |
| GRIN2D recurrent de novo dominant mutation causes a severe epileptic encephalopathy treatable with NMDA receptor channel blockers D Li, H Yuan, XR Ortiz-Gonzalez, ED Marsh, L Tian, EM McCormick, ... The American Journal of Human Genetics 99 (4), 802-816, 2016 | 171 | 2016 |
| Shape signatures: a new approach to computer-aided ligand-and receptor-based drug design RJ Zauhar, G Moyna, LF Tian, ZJ Li, WJ Welsh Journal of medicinal chemistry 46 (26), 5674-5690, 2003 | 161 | 2003 |
| Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1 Y Guo, M Kartawinata, J Li, HA Pickett, J Teo, T Kilo, PM Barbaro, ... Blood, The Journal of the American Society of Hematology 124 (18), 2767-2774, 2014 | 137 | 2014 |
| Comprehensive analysis of gene expression in human retina and supporting tissues M Li, C Jia, KL Kazmierkiewicz, AS Bowman, L Tian, Y Liu, NA Gupta, ... Human molecular genetics 23 (15), 4001-4014, 2014 | 127 | 2014 |
| Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly D Li, TL Wenger, C Seiler, ME March, A Gutierrez-Uzquiza, C Kao, E Bhoj, ... Human molecular genetics 27 (18), 3233-3245, 2018 | 94 | 2018 |
| AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate MJ Falk, D Li, X Gai, E McCormick, E Place, FM Lasorsa, FG Otieno, ... JIMD Reports, Volume 14, 77-85, 2014 | 87 | 2014 |
| Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder MD Keller, R Pandey, D Li, J Glessner, L Tian, SE Henrickson, IK Chinn, ... Journal of Allergy and Clinical Immunology 138 (2), 544-550. e4, 2016 | 85 | 2016 |
| Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications GJ Lyon, T Jiang, R Van Wijk, W Wang, PM Bodily, J Xing, L Tian, ... Discovery medicine 12 (62), 41, 2011 | 78 | 2011 |
| Transcriptome of the human retina, retinal pigmented epithelium and choroid L Tian, KL Kazmierkiewicz, AS Bowman, M Li, CA Curcio, DE Stambolian Genomics 105 (5-6), 253-264, 2015 | 63 | 2015 |
| Analysis of six genetic risk factors highly associated with AMD in the region surrounding ARMS2 and HTRA1 on chromosome 10, region q26 D Hadley, A Orlin, G Brown, AJ Brucker, AC Ho, CD Regillo, LA Donoso, ... Investigative ophthalmology & visual science 51 (4), 2191-2196, 2010 | 46 | 2010 |
| Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy B Almoguera, S He, M Corton, P Fernandez-San Jose, F Blanco-Kelly, ... Orphanet journal of rare diseases 9, 1-9, 2014 | 44 | 2014 |
| Shape Signatures: speeding up computer aided drug discovery PJ Meek, ZW Liu, LF Tian, CY Wang, WJ Welsh, RJ Zauhar Drug discovery today 11 (19-20), 895-904, 2006 | 42 | 2006 |
| A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling D Li, X Chang, JJ Connolly, L Tian, Y Liu, EJ Bhoj, N Robinson, D Abrams, ... Scientific Reports 7 (1), 3847, 2017 | 37 | 2017 |
| Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism D Li, EA Streeten, A Chan, W Lwin, L Tian, R Pellegrino da Silva, CE Kim, ... The Journal of Clinical Endocrinology & Metabolism 102 (5), 1726-1733, 2017 | 35 | 2017 |
| Application of whole exome sequencing in six families with an initial diagnosis of autosomal dominant retinitis pigmentosa: lessons learned B Almoguera, J Li, P Fernandez-San Jose, Y Liu, M March, R Pellegrino, ... PloS one 10 (7), e0133624, 2015 | 35 | 2015 |
Hakon HakonarsonDirector, Center for Applied Genomics, CHOP, UPENNEmail được xác minh tại email.chop.edu
