Sebastian Schäfer
Sebastian Schäfer
National Heart Centre Singapore, Duke-NUS Medical School
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RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing
W Guo*, S Schafer*, ML Greaser, MH Radke, M Liss, T Govindarajan, ...
Nature Medicine, 2012
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
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
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 crucial determinant of cardiovascular fibrosis
S Schafer, S Viswanathan, AA Widjaja, WW Lim, A Moreno-Moral, ...
Nature 552 (7683), 110, 2017
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
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
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
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
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
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
52 Genetic Loci Influencing Myocardial Mass
P van der Harst, J van Setten, N Verweij, G Vogler, L Franke, MT Maurano, ...
Journal of the American College of Cardiology 68 (13), 1435-1448, 2016
A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank–Starling mechanism
A Beqqali, IAE Bollen, TB Rasmussen, MM van den Hoogenhof, ...
Cardiovascular Research 112 (1), 452-463, 2016
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
Translational regulation shapes the molecular landscape of complex disease phenotypes
S Schafer, E Adami, M Heinig, KEC Rodrigues, F Kreuchwig, J Silhavy, ...
Nature communications 6, 2015
Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes
CJ Pua, J Bhalshankar, K Miao, R Walsh, S John, SQ Lim, K Chow, ...
Journal of cardiovascular translational research 9 (1), 3-11, 2016
Genomic landscape of rat strain and substrain variation
R Hermsen, J de Ligt, W Spee, F Blokzijl, S Schäfer, E Adami, S Boymans, ...
BMC genomics 16 (1), 357, 2015
Natural variation of histone modification and its impact on gene expression in the rat genome
C Rintisch, M Heinig, A Bauerfeind, S Schafer, C Mieth, G Patone, ...
Genome research 24 (6), 942-953, 2014
Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy
M Heinig, ME Adriaens, S Schafer, HWM van Deutekom, EM Lodder, ...
Genome Biology 18 (1), 170, 2017
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Artículos 1–20