Sebastian Schäfer
Sebastian Schäfer
Duke-NUS Medical School
Verified email at
Cited by
Cited by
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
RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing
W Guo*, S Schafer*, ML Greaser, MH Radke, M Liss, T Govindarajan, ...
Nature Medicine, 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
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
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
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
Engineered cell homing
D Sarkar, JA Spencer, JA Phillips, W Zhao, S Schafer, DP Spelke, ...
Blood 118 (25), e184-e191, 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
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
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
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
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
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
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
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
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
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
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
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
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, 263-276, 2020
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