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Scientific Publications

Publication Overview

Journal Article (2520)

  1. 1.
    Khayat, W.; Hackett , A.; Shaw, M.; Ilie , A.; Dudding-Byth , T.; Kalscheuer, V. M.; Christie , L.; Corbett , M. A.; Juusola , J.; Friend, K. L. et al.; Kirmse , B. M.; Gecz , J.; Field, M.; Orlowski, J.: A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. Human Molecular Genetics (2018)
  2. 2.
    Kahrizi, K.; Hu, H.; Hosseini, M.; Kalscheuer, V. M.; Fattahi, Z.; Beheshtian, M.; Suckow, V.; Mohseni, M.; Lipkowitz, B.; Mehvari, S. et al.; Mehrjoo, Z.; Akhtarkhavari, T.; Ghaderi, Z.; Rahimi, M.; Arzhangi, S.; Jamali, P.; Falahat Chian, M.; Nikuei , P.; Sabbagh Kermani, F.; Sadeghinia, F.; Jazayeri , R.; Tonekaboni, S. H.; Khoshaeen, A.; Habibi, H.; Pourfatemi, F.; Mojahedi , F.; Khodaie‐Ardakani, M.; Najafipour, R.; Wienker, T. F.; Najmabadi , H.; Ropers, H.-H.: Effect of inbreeding on intellectual disability revisited by Trio sequencing. Clinical Genetics: an international journal of genetics in medicine (2018)
  3. 3.
    Basilicata, M. F.; Bruel, A.-L.; Semplicio, G.; Keller Valsecchi, C. I.; Aktaş, T.; Duffourd, Y.; Rumpf, T.; Morton, J.; Bache, I.; Szymanski, W. G. et al.; Gilissen, C.; Vanakker, O.; Õunap, K.; Mittler, G.; van der Burgt, I.; El Chehadeh, S.; Cho, M. T.; Pfundt, R.; Tan, T. Y.; Kirchhoff, M.; Menten, B.; Vergult, S.; Lindstrom, K.; Reis, A.; Johnson, D. S.; Fryer, A.; McKay, V.; Study, D. D. D.; Fisher, R. B.; Thauvin-Robinet, C.; Francis, D.; Roscioli, T.; Pajusalu, S.; Radtke, K.; Ganesh, J.; Brunner, H. G.; Wilson, M.; Faivre, L.; Kalscheuer, V. M.; Thevenon, J.; Akhtar, A.: De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nature Genetics 50 (10), pp. 1442 - 1451 (2018)
  4. 4.
    Kragesteen , B. K.; Spielmann, M.; Paliou, C.; Heinrich, V.; Schöpflin, R.; Esposito, A.; Annunziatella, C.; Bianco , S.; Chiariello, A. M.; Jerković , I. et al.; Harabula, I.; Guckelberger, P.; Pechstein, M.; Wittler, L.; Chan, W.-L.; Franke, M.; Lupiáñez , D. G.; Kraft, K.; Timmermann, B.; Vingron, M.; Visel, A.; Nicodemi, M.; Mundlos, S.; Andrey, G.: Dynamic 3D chromatin architecture determines enhancer specificity and morphogenetic identity in limb development. Nature Genetics 50 (10), pp. 1463 - 1473 (2018)
  5. 5.
    Adachi, K.; Kopp, W.; Wu, G.; Heising, S.; Greber, B.; Stehling, M.; Araúzo-Bravo, M. J.; Boerno, S. T.; Timmermann, B.; Vingron, M. et al.; Schöler, H. R.: Esrrb unlocks silenced enhancers for reprogramming to naïve pluripotency. Cell Stem Cell 23 (2), pp. 266 - 275 (2018)
  6. 6.
    Grasse, S.; Lienhard, M.; Frese, S.; Kerick, M.; Steinbach, A.; Grimm, C.; Hussong, M.; Rolff, J.; Becker, M.; Dreher, F. et al.; Schirmer, U.; Boerno, S. T.; Ramisch, A.; Leschber, G.; Timmermann, B.; Grohé, C.; Lüders, H.; Vingron, M.; Fichtner, I.; Klein, S.; Odenthal, M.; Büttner, R.; Lehrach, H.; Sültmann, H.; Herwig, R.; Schweiger, R. M.: Epigenomic profiling of non-small cell lung cancer xenografts uncover LRP12 DNA methylation as predictive biomarker for carboplatin resistance. Genome Medicine (2018)
  7. 7.
    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)
  8. 8.
    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)
  9. 9.
    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)
  10. 10.
    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)
  11. 11.
    Xiao, Y.; Meierhofer, D.: Are hydroethidine-based probes reliable for ROS detection? ANTIOXIDANTS & REDOX SIGNALING (2018)
  12. 12.
    Mueller, J. C.; Kuhl, H.; Boerno, S. T.; Tella, J. L.; Carrete, M.; Kempenaers, B.: Evolution of genomic variation in the burrowing owl in response to recent colonization of urban areas. Proceedings of the Royal Society of London. Series B: Biological Sciences (London) (2018)
  13. 13.
    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.; Koboldt, 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)
  14. 14.
    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)
  15. 15.
    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)
  16. 16.
    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)
  17. 17.
    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)
  18. 18.
    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)
  19. 19.
    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)
  20. 20.
    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)
 
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