Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy JT Hinson, A Chopra, N Nafissi, WJ Polacheck, CC Benson, S Swist, ... Science 349 (6251), 982-986, 2015 | 644 | 2015 |
RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing W Guo*, S Schafer*, ML Greaser, MH Radke, M Liss, T Govindarajan, ... Nature Medicine, 2012 | 598 | 2012 |
IL-11 is a crucial determinant of cardiovascular fibrosis S Schafer, S Viswanathan, AA Widjaja, WW Lim, A Moreno-Moral, ... Nature 552 (7683), 110, 2017 | 538 | 2017 |
The translational landscape of the human heart S van Heesch, F Witte, V Schneider-Lunitz, JF Schulz, E Adami, AB Faber, ... Cell 178 (1), 242-260. e29, 2019 | 474 | 2019 |
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease AM Roberts, JS Ware, DS Herman, S Schafer, J Baksi, AG Bick, ... Science translational medicine 7 (270), 270ra6-270ra6, 2015 | 466 | 2015 |
Titin-truncating variants affect heart function in disease cohorts and the general population. S Schafer, A De Marvao, E Adami, LR Fiedler, B Ng, E Khin, OJ Rackham, ... Nature genetics 49 (1), 46-53, 2017 | 300 | 2017 |
Engineered cell homing D Sarkar, JA Spencer, JA Phillips, W Zhao, S Schafer, DP Spelke, ... Blood 118 (25), e184-e191, 2011 | 246 | 2011 |
IL-11 is a therapeutic target in idiopathic pulmonary fibrosis S Cook, B Ng, J Dong, S Viswanathan, G DAgostino, A Widjaja, WW Lim, ... BioRxiv, 336537, 2018 | 233* | 2018 |
Interleukin-11 is a therapeutic target in idiopathic pulmonary fibrosis B Ng, J Dong, G D’Agostino, S Viswanathan, AA Widjaja, WW Lim, ... Science translational medicine 11 (511), eaaw1237, 2019 | 228 | 2019 |
Inhibiting Interleukin 11 Signaling Reduces Hepatocyte Death and Liver Fibrosis, Inflammation, and Steatosis in Mouse Models of Nonalcoholic Steatohepatitis AA Widjaja, BK Singh, E Adami, S Viswanathan, J Dong, GA D’Agostino, ... Gastroenterology 157 (3), 777-792. e14, 2019 | 219 | 2019 |
Cell-surface sensors for real-time probing of cellular environments W Zhao, S Schafer, J Choi, YJ Yamanaka, ML Lombardi, S Bose, ... Nature nanotechnology 6 (8), 524-531, 2011 | 218 | 2011 |
RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing H Maatz, M Jens, M Liss, S Schafer, M Heinig, M Kirchner, E Adami, ... The Journal of clinical investigation 124 (8), 3419-3430, 2014 | 214 | 2014 |
Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy AK Arndt, S Schafer, JD Drenckhahn, MK Sabeh, ER Plovie, A Caliebe, ... The American Journal of Human Genetics, 2013 | 205 | 2013 |
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease C Chauveau, CG Bonnemann, C Julien, AL Kho, H Marks, B Talim, ... Human molecular genetics 23 (4), 980-991, 2014 | 183 | 2014 |
Alternative Splicing Signatures in RNA‐seq Data: Percent Spliced in (PSI) S Schafer, K Miao, CC Benson, M Heinig, SA Cook, N Hubner Current Protocols in Human Genetics, 11.16. 1-11.16. 14, 2015 | 170 | 2015 |
Characterising the loss-of-function impact of 5'untranslated region variants in whole genome sequence data from 15,708 individuals N Whiffin, KJ Karczewski, X Zhang, S Chothani, MJ Smith, DG Evans, ... bioRxiv, 543504, 2019 | 134* | 2019 |
Quantitative and Qualitative Proteome Characteristics Extracted from In-Depth Integrated Genomics and Proteomics Analysis TY Low, S van Heesch, H van den Toorn, P Giansanti, A Cristobal, ... Cell reports 5 (5), 1469-1478, 2013 | 132 | 2013 |
Characterising the loss-of-function impact of 5’untranslated region variants in 15,708 individuals N Whiffin, KJ Karczewski, X Zhang, S Chothani, MJ Smith, DG Evans, ... Nature communications 11 (1), 2523, 2020 | 129 | 2020 |
52 genetic loci influencing myocardial mass P Van der Harst, J van Setten, N Verweij, G Vogler, L Franke, ... Journal of the American College of Cardiology 68 (13), 1435-1448, 2016 | 129 | 2016 |
Hiding in plain sight: interleukin-11 emerges as a master regulator of fibrosis, tissue integrity, and stromal inflammation SA Cook, S Schafer Annual Review of Medicine 71 (1), 263-276, 2020 | 124 | 2020 |