|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
|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 (3), 1-18, 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 56 (2), 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
|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
|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
|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
|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 124 (18), 2767-2774, 2014
|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
|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
|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
|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
|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
|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
|Program recording system, remote controller, and method and program for remote control|
T Hiramoto, R Hori, S Okamoto, Y Asada
US Patent App. 10/155,995, 2003
|Critical role of histone acetylation by p300 in human placental 11β-HSD2 expression|
J Li, W Wang, C Liu, W Wang, W Li, Q Shu, ZJ Chen, K Sun
The Journal of Clinical Endocrinology & Metabolism 98 (7), E1189-E1197, 2013
|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
|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
|A missense mutation in ANKRD26 segregates with thrombocytopenia|
SA Al Daama, YH Housawi, W Dridi, M Sager, FG Otieno, C Hou, ...
Blood, The Journal of the American Society of Hematology 122 (3), 461-462, 2013
|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