I am using high-throughput technologies to decipher the molecular processes that impact human health. My main goal is to interpret genome-wide datasets in the context of complex disease and identify novel therapeutic targets. A special focus lies on the utilization of ribosome profiling data to identify novel coding regions of the genome and investigate translational regulation. We use the insights gained from sophisticated drug discovery projects to develop novel therapeutics that will benefit patients.
1. Schafer, S., de Marvao, A., Adami, E., Fiedler, L., Ng, B., Khin, E., Rackham, O., van Heesch, S., Pua, C., Kui, M., Walsh, R., Tayal, U., Prasad, S., Dawes, T., Ko, N., Sim, D., Chan, L., Chin, C., Mazzarotto, F., Barton, P., Kreuchwig, F., de Kleijn, D., Totman, T., Biffi, C., Tee, N., Rueckert, D., Schneider, V., Faber, A., Regitz-Zagrosek, V., Seidman, J., Seidman, C., Linke, W., Kovalik, J.-P., O’Regan, D., Ware, J., Hubner, N. & Cook, S. Titin-truncating variants affect heart function in disease cohorts and the general population. Nature Genetics. 2017
2. McDermott-Roe, C., Leleu, M., Rowe, G. C., Palygin, O., Bukowy, J. D., Kuo, J., Rech, M., Hermans-Beijnsberger, S., Schaefer, S., Adami, E., Creemers, E. E., Heinig, M., Schroen, B., Arany, Z., Petretto, E. & Geurts, A. M. Transcriptome-wide co-expression analysis identifies LRRC2 as a novel mediator of mitochondrial and cardiac function. PloS one. 2017
3. Beqqali, A., Bollen, I. A., Rasmussen, T. B., van den Hoogenhof, M. M., van Deutekom, H. W., Schafer, S., Haas, J., Meder, B., Sørensen, K. E., van Oort, R. J., Mogensen, J., Hubner, N., Creemers, E. E., van der Velden, J. & Pinto, Y. M. 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. Cardiovascular research. 2016
4. Wang, M., Sips, P., Khin, E., Rotival, M., Sun, X., Ahmed, R., Widjaja, A., Schafer, S., Yusoff, P., Choksi, P., Ko, N., Singh, M., Epstein, D., Guan, Y., Houštěk, J., Mracek, T., Nuskova, H., Mikell, B., Tan, J., Pesce, F., Kolar, F., Bottolo, L., Mancini, M., Hubner, N., Pravenec, M., Petretto, E., MacRae, C. & Cook, S. Wars2 is a determinant of angiogenesis. Nature Communications. 2016
5. Van der Harst, P., van Setten, J., Verweij, N., Vogler, G., Franke, L., Maurano, M. T., Wang, X. … Schafer, S. … Christoffels, V.M., Isaacs, A., Samani, N.J., de Bakker, P.I.W. (2016). 52 Genetic Loci Influencing Myocardial Mass.Journal of the American College of Cardiology
6. Pua CJ, Bhalshankar J, Miao K, Walsh R, John S, Lim SQ, Chow K, Buchan R, Soh BY, Lio PM, Lim J, Schafer S, Lim JQ, Tan P, Whiffin N, Barton PJ, Ware JS, Cook SA. Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. J Cardiovasc Transl Res. 2016
7. Buyandelger B, Mansfield C, Kostin S, Choi O, Roberts AM, Ware JS, Mazzarotto F, Pesce F, Buchan R, Isaacson RL, Vouffo J, Gunkel S, Knöll G, McSweeney SJ, Wei H, Perrot A, Pfeiffer C, Toliat MR, Ilieva K, Krysztofinska E, López-Olañeta MM, Gómez-Salinero JMM, Schmidt A, Ng K-EE, Teucher N, Chen J, Teichmann M, Eilers M, Haverkamp W, Regitz-Zagrosek V, Hasenfuss G, Braun T, Pennell DJ, Gould I, Barton PJ, Lara-Pezzi E, Schäfer S, Hübner N, Felkin LE, O’Regan DP, Brand T, Milting H, Nürnberg P, Schneider MD, Prasad S, Petretto E, Knöll R. ZBTB17 (MIZ1) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart Failure. Circ Cardiovasc Genet. 2015
8. Schafer S, Adami E, Heinig M, Rodrigues KE, Kreuchwig F, Silhavy J, Heesch S van, Simaite D, Rajewsky N, Cuppen E, Pravenec M, Vingron M, Cook SA, Hubner N. Translational regulation shapes the molecular landscape of complex disease phenotypes. Nature communications. 2015
9. Hinson JT, Chopra A, Nafissi N, Polacheck WJ, Benson CC, Swist S, Gorham J, Yang L, Schafer S, Sheng CC, Haghighi A, Homsy J, Hubner N, Church G, Cook SA, Linke WA, Chen CS, Seidman JG, Seidman CE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy. Science. 2015
10. Albert GI, Schell C, Kirschner KM, Schäfer S, Naumann R, Müller A, Kretz O, Kuropka B, Girbig M, Hübner N, Krause E, Scholz H, Huber TB, Knobeloch K-PP, Freund C. The GYF domain protein CD2BP2 is critical for embryogenesis and podocyte function. J Mol Cell Biol. 2015
11. Roberts AM, Ware JS, Herman DS, Schafer S, Baksi J, Bick AG, Buchan RJ, Walsh R, John S, Wilkinson S, Mazzarotto F, Felkin LE, Gong S, MacArthur JA, Cunningham F, Flannick J, Gabriel SB, Altshuler DM, Macdonald PS, Heinig M, Keogh AM, Hayward CS, Banner NR, Pennell DJ, O’Regan DP, San TR, Marvao A de, Dawes TJ, Gulati A, Birks EJ, Yacoub MH, Radke M, Gotthardt M, Wilson JG, O’Donnell CJ, Prasad SK, Barton PJ, Fatkin D, Hubner N, Seidman JG, Seidman CE, Cook SA. Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. Sci Transl Med. 2015
12. Heinig M, Colomé-Tatché M, Taudt A, Rintisch C, Schafer S, Pravenec M, Hubner N, Vingron M, Johannes F. histoneHMM: Differential analysis of histone modifications with broad genomic footprints. BMC Bioinformatics. 2015
13. Hermsen R, Ligt J de, Spee W, Blokzijl F, Schäfer S, Adami E, Boymans S, Flink S, Boxtel R van, Weide RH van der, Aitman T, Hübner N, Simonis M, Tabakoff B, Guryev V, Cuppen E. Genomic landscape of rat strain and substrain variation. BMC Genomics. 2015
14. Schafer S, Miao K, Benson CC, Heinig M, Cook SA, Hubner N. Alternative Splicing Signatures in RNA-seq Data: Percent Spliced in (PSI). Curr Protoc Hum Genet. 2015
15. Maatz H, Jens M, Liss M, Schafer S, Heinig M, Kirchner M, Adami E, Rintisch C, Dauksaite V, Radke MH, Selbach M, Barton PJ, Cook SA, Rajewsky N, Gotthardt M, Landthaler M, Hubner N. RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing. J Clin Invest. 2014
16. Falak S, Schafer S, Baud A, Hummel O, Schulz H, Gauguier D, Hubner N, Osborne-Pellegrin M. Protease inhibitor 15, a candidate gene for abdominal aortic internal elastic lamina ruptures in the rat. Physiological Genomics. 2014
17. Rintisch C, Heinig M, Bauerfeind A, Schafer S, Mieth C, Patone G, Hummel O, Chen W, Cook S, Cuppen E, Colomé-Tatché M, Johannes F, Jansen RC, Neil H, Werner M, Pravenec M, Vingron M, Hubner N. Natural variation of histone modification and its impact on gene expression in the rat genome. Genome Res. 2014
18. Chauveau, Bonnemann, Julien, Kho, Marks, Talim, Maury, Arne-Bes, Uro-Coste, Alexandrovich, Vihola, Schafer, Kaufmann, Medne, Hubner, Foley, Santi, Udd, Topaloglu, Moore, Gotthardt, Samuels, Gautel, Ferreiro. Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. Human Molecular Genetics. 2013
19. Low T, Heesch S van, Toorn H van den, Giansanti P, Cristobal A, Toonen P, Schafer S, Hübner N, Breukelen B van, Mohammed S, Cuppen E, Heck A, Guryev V. Quantitative and Qualitative Proteome Characteristics Extracted from In-Depth Integrated Genomics and Proteomics Analysis. Cell Reports. 2013
20. Arndt A-K, Schafer S, Drenckhahn J-D, Sabeh K, Plovie E, Caliebe A, Klopocki E, Musso G, Werdich A, Kalwa H, Heinig M, Padera R, Wassilew K, Bluhm J, Harnack C, Martitz J, Barton P, Greutmann M, Berger F, Hubner N, Siebert R, Kramer H-H, Cook S, MacRae C, Klaassen S. Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy. The American Journal of Human Genetics. 2013
21. Guo W*, Schafer S*, Greaser ML, Radke MH, Liss M, Govindarajan T, Maatz H, Schulz H, Li S, Parrish AM, Dauksaite V, Vakeel P, Klaassen S, Gerull B, Thierfelder L, Regitz-Zagrosek V, Hacker TA, Saupe KW, Dec GW, Ellinor PT, MacRae CA, Spallek B, Fischer R, Perrot A, Özcelik C, Saar K, Hubner N, Gotthardt M. RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. Nature Medicine. 2012 *shared first author
22. Zhao W, Loh W, Droujinine I, Teo W, Kumar N, Schafer S, Cui C, Zhang L, Sarkar D, Karnik R, Karp J. Mimicking the inflammatory cell adhesion cascade by nucleic acid aptamer programmed cell-cell interactions. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2011;25(9):3045–56.
23. Sarkar D, Spencer JA, Phillips JA, Zhao W, Schafer S, Spelke DP, Mortensen LJ, Ruiz JP, Vemula PK, Sridharan R, Kumar S, Karnik R, Lin CP, Karp JM. Engineered cell homing. Blood. 2011
24. Zhao W, Schafer S, Choi J, Yamanaka YJ, Lombardi ML, Bose S, Carlson AL, Phillips JA, Teo W, Droujinine IA, Cui CH, Jain RK, Lammerding J, Love JC, Lin CP, Sarkar D, Karnik R, Karp JM. Cell-surface sensors for real-time probing of cellular environments. Nat Nanotechnol. 2011