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Sebastian Schäfer
Sebastian Schäfer
VVB Bio
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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
6692015
RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing
W Guo*, S Schafer*, ML Greaser, MH Radke, M Liss, T Govindarajan, ...
Nature Medicine, 2012
6192012
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
5742017
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
5102019
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
4962015
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
3172017
Engineered cell homing
D Sarkar, JA Spencer, JA Phillips, W Zhao, S Schafer, DP Spelke, ...
Blood 118 (25), e184-e191, 2011
2542011
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
252*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
2472019
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
2472019
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
2222011
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
2212014
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
2152013
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
1912014
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
1742015
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
151*2019
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
1462020
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
1452020
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
1352013
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
1312016
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