Further information

Scientific Publications

Publication Overview

Journal Article (2365)

  1. 1.
    Charzewska, A.; Maiwald, R.; Kahrizi, K.; Oehl‐Jaschkowitz, B.; Dufke, A.; Lemke, J. R.; Enders, H.; Najmabadi, H.; Tzschach, A.; Hachmann, W. et al.; Jensen, C.; Bienek, M.; Poznański, J.; Nawara, M.; Chilarska, T.; Obersztyn, E.; Hoffman‐Zacharska, D.; Gos, M.; Bal, J.; Kalscheuer, V. M.: The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders. Clinical Genetics: an international journal of genetics in medicine (2018)
  2. 2.
    Selvan, N.; George, S.; Serajee, F. J.; Shaw, M.; Hobson, L.; Kalscheuer, V.; Nripesh, P.; Levy, S. E.; Taylor, J.; Aftimos, S. et al.; Schwartz, C. E.; Huq, A. M.; Gecz, J.; Wells, L.: O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling. Journal of Biological Chemistry 293 (27), pp. 10810 - 10824 (2018)
  3. 3.
    Berndt, N.; Bulik, S.; Wallach, I.; Wünsch, T.; König, M.; Stockmann, M.; Meierhofer, D.; Holzhütter, H.-G.: HEPATOKIN1 is a biochemistry-based model of liver metabolism for applications in medicine and pharmacology. Nature Communications (2018)
  4. 4.
    Louloupi, A.; Ntini, E.; Conrad, T.; Ørom, U. A.: Transient N-6-Methyladenosine Transcriptome Sequencing Reveals a Regulatory Role of m6A in Splicing Efficiency. Cell Reports (2018)
  5. 5.
    Xiao, Y.; Meierhofer, D.: Are hydroethidine-based probes reliable for ROS detection? ANTIOXIDANTS & REDOX SIGNALING (2018)
  6. 6.
    Frints, S. G. M.; Ozanturk, A.; Rodríguez Criado, G.; Grasshoff, U.; de Hoon, B.; Field, M.; Manouvrier-Hanu, S.; Hickey, S. E.; Kammoun, M.; Gripp, K. W. et al.; Bauer, C.; Schroeder, C.; Toutain, A.; Mihalic Mosher, T.; Kelly, B. J.; White, P.; Dufke, A.; Rentmeester, E.; Moon, S.; oboldt, D. C.; van Roozendaal, K. E. P.; Hu, H.; Haas, S. A.; Ropers, H.-H.; Murray, L.; Haan, E.; Shaw, M.; Carroll, R.; Friend, K.; Liebelt, J.; Hobson, L.; De Rademaeker, M.; Geraedts, J.; Fryns, J.-P.; Vermeesch, J.; Raynaud, M.; Riess, O.; Gribnau, J.; Katsanis, N.; Devriendt, K.; Bauer, P.; Gecz, J.; Golzio, C.; Gontan, C.; Kalscheuer, V. M.: Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Molecular Psychiatry (2018)
  7. 7.
    Vögtle, F.-N.; Brändl, B.; Larson, A.; Pendziwiat, M.; Friederich, M. W.; White, S. M.; Basinger, A.; Kücükköse, C.; Muhle, H.; Jähn, J. A. et al.; Keminer, O.; Helbig, K. L.; Delto, C. F.; Myketin, L.; Mossmann, D.; Burger, N.; Miyake, N.; Burnett, A.; van Baalen, A.; Lovell, M. A.; Matsumoto, N.; Walsh, M.; Yu, H.-C.; Deepali N. Shinde, D. N.; Stephani, U.; Van Hove, J. L. K.; Müller, F.-J.; Helbig, I.: Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood. American Journal of Human Genetics 102 (4), pp. 557 - 573 (2018)
  8. 8.
    Ziller, M. J.; Ortega, J. A.; Quinlan, K. A.; Santos, D. P.; Gu, H.; Martin , E. J.; Galonska, C.; Pop, R.; Maidl, S.; Pardo, A. D. et al.; Huang , M.; Meltzer, H. Y.; Gnirke , A.; Heckman, C. J.; Meissner, A.; Kiskinis, E.: Dissecting the Functional Consequences of De Novo DNA Methylation Dynamics in Human Motor Neuron Differentiation and Physiology. Cell Stem Cell 22, pp. 1 - 16 (2018)
  9. 9.
    Charlton, J.; Downing, T. L.; Smith, Z. D.; Gu, H.; Clement, K.; Pop, R.; Akopian, V.; Klages, S.; Santos, D. P.; Tsankov, A. M. et al.; Timmermann, B.; Ziller, M. J.; Kiskinis, E.; Gnirke, A.; Meissner, A.: Global delay in nascent strand DNA methylation. Nature Structural and Molecular Biology 25 (4), pp. 327 - 332 (2018)
  10. 10.
    Orgeur, M.; Martens, M.; Leonte, G.; Nassari, S.; Bonnin, M.-A.; Börno, S. T.; Timmermann, B.; Hecht, J.; Duprez, D.; Stricker, S.: Genome-wide strategies identify downstream target genes of connective tissue-associated transcription factors. Development (2018)
  11. 11.
    Smol, T.; Petit, F.; Piton, A.; Keren, B.; Sanlaville, D.; Afenjar, A.; Baker, S.; Bedoukian, E. C.; Bhoj, E. J.; Bonneau, D. et al.; Boudry-Labis, E.; Bouquillon, S.; Boute-Benejean, O.; Caumes, R.; Chatron, N.; Colson, C.; Coubes, C.; Coutton, C.; Devillard, F.; Dieux-Coeslier, A.; Doco-Fenzy, M.; Ewans, L. J.; Faivre, L.; Fassi, E.; Field, M.; Fournier, C.; Francannet, C.; Genevieve, D.; Giurgea, I.; Goldenberg, A.; Green, A. K.; Guerrot, A. M.; Heron, D.; Isidor, B.; Keena, B. A.; Krock, B. L.; Kuentz, P.; Lapi, E.; Le Meur, N.; Lesca, G.; Li, D.; Marey, I.; Mignot, C.; Nava, C.; Nesbitt, A.; Nicolas, G.; Roche-Lestienne, C.; Roscioli, T.; Satre, V.; Santani, A.; Stefanova, M.; Steinwall Larsen, S.; Saugier-Veber, P.; Picker-Minh, S.; Thuillier, C.; Verloes, A.; Vieville, G.; Wenzel, M.; Willems, M.; Whalen, S.; Zarate, Y. A.; Ziegler, A.; Manouvrier-Hanu, S.; Kalscheuer, V. M.; Gerard, B.; Ghoumid, J.: MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. Neurogenetics (2018)
  12. 12.
    Ho, B.; Greenlaw, K.; Al Tuwaijri, A.; Moussette, S.; Martinez, F.; Giorgio, E.; Brusco, A.; Ferrero, G. B.; Linhares, N. D.; Valadares, E. R. et al.; Svartman, M.; Kalscheuer, V. M.; Rodriguez Criado, G.; Laprise, C.; Greenwood, C. M. T.; Naumova, A. K.: X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells. Biology of Sex Differences (2018)
  13. 13.
    Li, Y.; Lee, M.; Kim, N.; Wu, G.; Deng, D.; Kim, J. M.; Liu, X.; Heo, W. D.; Zi, Z.: Spatiotemporal Control of TGF-β Signaling with Light. ACS Synthetic Biology 7 (2), pp. 443 - 451 (2018)
  14. 14.
    Piard, J.; Hu, J. H.; Campeau, P. M.; Rzonca, S.; Van Esch, H.; Vincent, E.; Han, M.; Rossignol, E.; Castaneda, J.; Chelly, J. et al.; Skinner, C.; Kalscheuer, V. M.; Wang, R.; Lemyre, E.; Kosinska, J.; Stawinski, P.; Bal, J.; Hoffman, D. A.; Schwartz, C. E.; Van Maldergem, L.; Wang, T.; Worley, P. F.: FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis. Human Molecular Genetics 27 (4), pp. 589 - 600 (2018)
  15. 15.
    Galonska, C.; Charlton, J.; Mattei, A. L.; Donaghey, J.; Clement, K.; Gu, H.; Mohammad, A. W.; Stamenova, E. K.; Cacchiarelli, D.; Klages, S. et al.; Timmermann, B.; Cantz, T.; Schöler, H. R.; Gnirke, A.; Ziller, M. J.; Meissner, A.: Genome-wide tracking of dCas9-methyltransferase footprints. Nature Communications (2018)
  16. 16.
    Baek, J. Y.; Geissner, A.; Rathwell, D. C. K.; Meierhofer, D.; Pereira, C. L.; Seeberger , P.: A modular synthetic route to size-defined immunogenic Haemophilus influenzae b antigens is key to the identification of an octasaccharide lead vaccine candidate. Chemical Science 9 (5), pp. 1279 - 1288 (2018)
  17. 17.
    Janssens, S.; Schotsaert, M.; Karnik, R.; Balasubramaniam, V.; Dejosez, M.; Meissner, A.; García-Sastre, A.; Zwaka, T. P.: Zika Virus Alters DNA Methylation of Neural Genes in an Organoid Model of the Developing Human Brain. mSystems (2018)
  18. 18.
    Palmer, E. E.; Stuhlmann, T.; Weinert, S.; Haan, E.; van Esch, H.; Holvoet, M.; Boyle, J.; Leffler, M.; Raynaud, M.; Moraine, C. et al.; van Bokhoven, H.; Kleefstra, T.; Kahrizi, K.; Najmabadi, H.; Ropers, H.-H.; Delgado, M. R.; Sirsi, D.; Golla, S.; Sommer, A.; Pietryga, M. P.; Chung, W. K.; Wynn, J.; Rohena, L.; Bernardo, E.; Hamlin, D.; Faux, B. M.; Grange, D. K.; Manwaring, L.; Tolmie, J.; Joss, S.; Study, D. D. D.; Cobben, J. M.; Duijkers, F. A. M.; Goehringer, M.; Challman, T. D.; Hennig, F.; Fischer, U.; Grimme, A.; Suckow, V.; Musante, L.; Nicholl, J.; Shaw, M.; Lodh, S. P.; Niu, Z.; Rosenfeld, A.; Stankiewicz, P.; Jentsch, T. H.; Gecz, J.; Field, M.; Kalscheuer, V. M.: De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. Molecular Psychiatry 23 (2), pp. 222- - 230 (2018)
  19. 19.
    Donaghey, J.; Thakurela, S.; Charlton, J.; Chen, J. S.; Smith, Z. D.; Gu, H.; Pop, R.; Clement, K.; Stamenova, E. K.; Karnik, R. et al.; Kelley, D. R.; Gifford, C. A.; Cacchiarelli, D.; Rinn, J. L.; Gnirke, A.; Ziller, M. J.; Meissner, A.: Genetic determinants and epigenetic effects of pioneer-factor occupancy. Nature Genetics (2018)
  20. 20.
    Orgeur, M.; Martens, M.; Börno, S. T.; Timmermann, B.; Duprez, D.; Stricker, S.: A dual transcript-discovery approach to improve the delimitation of gene features from RNA-seq data in the chicken model. Biology Open (2018)
 
loading content
Go to Editor View