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Journal Article (39)

  1. 1.
    Journal Article
    Hu, H.; Haas, S. A.; Chelly, J.; Van Esch, H.; Raynaud, M.; de Brouwer, A. P. M.; Weinert, S.; Froyen, G.; Frints, S. G. M.; Laumonnier, F. et al.; Zemojtel, T.; Love, M. I.; Richard, H.; Emde, A.-K.; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; Wissink-Lindhout, W.; Lebrun, N.; Castelnau, L.; Rucci, J.; Montjean, R.; Dorseuil, O.; Billuart, P.; Stuhlmann, T.; Shaw, M.; Corbett, M. A.; Gardner, A.; Willis-Owen, S.; Tan, C.; Friend, K. L.; Belet, S.; van Roozendaal, K. E. P.; Jimenez-Pocquet, M.; Moizard, M.-P.; Ronce, N.; Sun, R.; O'Keeffe, S.; Chenna, R.; van Bömmel, A.; Göke, J.; Hackett, A.; Field, M.; Christie, L.; Boyle, J.; Haan, E.; Nelson, J.; Turner, G.; Baynam, G.; Gillessen-Kaesbach, G.; Müller, U.; Steinberger, D.; Budny, B.; Badura-Stronka, M.; Latos-Bieleńska, A.; Ousager, L. B.; Wieacker, P.; Rodríguez Criado, G.; Bondeson, M.-L.; Annerén, G.; Dufke, A.; Cohen, M.; Van Maldergem, L.; Vincent-Delorme, C.; Echenne, B.; Simon-Bouy, B.; Kleefstra, T.; Willemsen, M.; Fryns, J.-P.; Devriendt, K.; Ullmann, R.; Vingron, M.; Wrogemann, K.; Wienker, T. F.; Tzschach, A.; van Bokhoven, H.; Gecz, J.; Jentsch, T. J.; Chen, W.; Ropers, H.-H.; Kalscheuer, V. M.: X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Molecular Psychiatry 21 (1), pp. 133 - 148 (2016)
  2. 2.
    Journal Article
    de Brouwer, A. P.; Nabuurs, S. B.; Verhaart, I. E.; Oudakker, A. R.; Hordijk, R.; Yntema, H. G.; Hordijk-Hos, J. M.; Voesenek, K.; de Vries, B. B.; van Essen, T. et al.; Chen, W.; Hu, H.; Chelly, J.; den Dunnen, J. T.; Kalscheuer, V. M.; Aartsma-Rus, A. M.; Hamel, B. C.; van Bokhoven, H.; Kleefstra, T.: A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy. European journal of human genetics 22 (4), pp. 480 - 485 (2014)
  3. 3.
    Journal Article
    Wang, Y.; Gogol-Doring, A.; Hu, H.; Frohler, S.; Ma, Y.; Jens, M.; Maaskola, J.; Murakawa, Y.; Quedenau, C.; Landthaler, M. et al.; Kalscheuer, V.; Wieczorek, D.; Wang, Y.; Hu, Y.; Chen, W.: Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation. EMBO Molecular Medicine 5 (9), pp. 1431 - 1442 (2013)
  4. 4.
    Journal Article
    Bainbridge, M. N.; Hu, H.; Muzny, D. M.; Musante, L.; Lupski, J. R.; Graham, B. H.; Chen, W.; Gripp, K. W.; Jenny, K.; Wienker, T. F. et al.; Yang, Y.; Sutton, V. R.; Gibbs, R. A.; Ropers, H. H.: De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Medicine 5 (2) (2013)
  5. 5.
    Journal Article
    Hu, H.; Eggers, K.; Chen, W.; Garshasbi, M.; Motazacker, M. M.; Wrogemann, K.; Kahrizi, K.; Tzschach, A.; Hosseini, M.; Bahman, I. et al.; Hucho, T.; Muhlenhoff, M.; Gerardy-Schahn, R.; Najmabadi, H.; Ropers, H. H.; Kuss, A. W.: ST3GAL3 mutations impair the development of higher cognitive functions. Am J Hum Genet 89 (3), pp. 407 - 14 (2011)
  6. 6.
    Journal Article
    Jensen, L. R.; Chen, W.; Moser, B.; Lipkowitz, B.; Schroeder, C.; Musante, L.; Tzschach, A.; Kalscheuer, V. M.; Meloni, I.; Raynaud, M. et al.; van Esch, H.; Chelly, J.; de Brouwer, A. P.; Hackett, A.; van der Haar, S.; Henn, W.; Gecz, J.; Riess, O.; Bonin, M.; Reinhardt, R.; Ropers, H. H.; Kuss, A. W.: Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. Eur J Hum Genet 19 (6), pp. 717 - 20 (2011)
  7. 7.
    Journal Article
    Kahrizi, K.; Hu, C. H.; Garshasbi, M.; Abedini, S. S.; Ghadami, S.; Kariminejad, R.; Ullmann, R.; Chen, W.; Ropers, H. H.; Kuss, A. W. et al.; Najmabadi, H.; Tzschach, A.: Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. Eur J Hum Genet 19 (1), pp. 115 - 7 (2011)
  8. 8.
    Journal Article
    Najmabadi, H.; Hu, H.; Garshasbi, M.; Zemojtel, T.; Abedini, S. S.; Chen, W.; Hosseini, M.; Behjati, F.; Haas, S.; Jamali, P. et al.; Zecha, A.; Mohseni, M.; Puttmann, L.; Vahid, L. N.; Jensen, C.; Moheb, L. A.; Bienek, M.; Larti, F.; Mueller, I.; Weissmann, R.; Darvish, H.; Wrogemann, K.; Hadavi, V.; Lipkowitz, B.; Esmaeeli-Nieh, S.; Wieczorek, D.; Kariminejad, R.; Firouzabadi, S. G.; Cohen, M.; Fattahi, Z.; Rost, I.; Mojahedi, F.; Hertzberg, C.; Dehghan, A.; Rajab, A.; Banavandi, M. J.; Hoffer, J.; Falah, M.; Musante, L.; Kalscheuer, V.; Ullmann, R.; Kuss, A. W.; Tzschach, A.; Kahrizi, K.; Ropers, H. H.: Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478 (7367), pp. 57 - 63 (2011)
  9. 9.
    Journal Article
    Kahrizi, K.; Hu, C. H.; Garshasbi, M.; Abedini, S. S.; Ghadami, S.; Kariminejad, R.; Ullmann, R.; Chen, W.; Ropers, H.-H.; Kuss, A. W. et al.; Najmabadi, H.; Tzschach, A.: Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. European Journal of Human Genetics 19, pp. 115 - 117 (2010)
  10. 10.
    Journal Article
    Peleg, S.; Sananbenesi, F.; Zovoilis, A.; Burkhardt, S.; Bahari-Javan, S.; Agis-Balboa, R. C.; Cota, P.; Wittnam, J. L.; Gogol-Doering, A.; Opitz, L. et al.; Salinas-Riester, G.; Dettenhofer, M.; Kang, H.; Farinelli, L.; Chen, W.; Fischer, A.: Altered Histone Acetylation Is Associated with Age-Dependent Memory Impairment in Mice. Science 328 (5979), pp. 753 - 756 (2010)
  11. 11.
    Journal Article
    Liu, Y.; Hu, W.; Wang, H.; Lu, M.; Shao, C.; Menzel, C.; Yan, Z.; Li, Y.; Zhao, S.; Khaitovich, P. et al.; Liu, M.; Chen, W.; Barnes, B. M.; Yan, J.: Genomic Analysis of miRNAs in an Extreme Mammalian Hibernator, the Arctic Ground Squirrel. Physiological Genomics 42A (1), pp. 39 - 51 (2010)
  12. 12.
    Journal Article
    Sharbati, S.; Friedländer, M. R.; Sharbati, J.; Hoeke, L.; Chen, W.; Keller, A.; Stähler, P. F.; Rajewsky, N.; Einspanier, R.: Deciphering the porcine intestinal microRNA transcriptome. BMC Genomics 11, p. e275 - e275 (2010)
  13. 13.
    Journal Article
    Hu, H.; Wrogemann, K.; Kalscheuer, V. M.; Tzschach, A.; Richard, H.; Haas, S. A.; Menzel, C.; Bienek, M.; Froyen, G.; Raynaud, M. et al.; Van Bokhoven, H.; Chelly, J.; Ropers, H.-H.; Chen, W.: Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. The Hugo Journal 3 (1-4), p. 83 - 83 (2010)
  14. 14.
    Journal Article
    Grabundzija, I.; Irgang, M.; Lajos Mátés, L. M.; Belay, E.; Matrai, J.; Gogol-Döring, A.; Kawakami, K.; Chen, W.; Ruiz, P.; Chuah, M. K. L. et al.; VandenDriessche, T.; Izsvák, Z.; Ivics, Z.: Comparative Analysis of Transposable Element Vector Systems in Human Cells. Molecular Therapy: the Journal of the American Society of Gene Therapy 18 (6), pp. 1200 - 1209 (2010)
  15. 15.
    Journal Article
    Chen, W.; Ullmann, R.; Langnick, C.; Menzel, C.; Wotschofsky, Z.; Hu, H.; Döring, A.; Hu, Y.; Kang, H.; Tzschach, A. et al.; Hoeltzenbein, M.; Neitzel, H.; Markus, S.; Wiedersberg, E.; Kistner, G.; van Ravenswaaij-Arts, C. M. A.; Kleefstra, T.; Kalscheuer, V. M.; Ropers, H.-H.: Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing. European Journal of Human Genetics (2010)
  16. 16.
    Journal Article
    Stoeckius, M.; Maaskola, J.; Colombo, T.; Rahn, H.-P.; Friedländer, M. R.; Li, N.; Chen, W.; Piano, F.; Rajewsky, N.: Large-scale sorting of C. elegans embryos reveals the dynamics of small RNA expression. Nature Methods 6, pp. 745 - 751 (2009)
  17. 17.
    Journal Article
    Hu, H. Y.; Yan, Z.; Xu, Y.; Hu, H.; Menzel, C.; Zhou, Y. H.; Chen, W.; Khaitovich, P.: Sequence features associated with microRNA strand selection in humans and flies. BMC Genomics 10, p. 413 - 413 (2009)
  18. 18.
    Journal Article
    Fu, X.; Fu, N.; Guo, S.; Yan, Z.; Xu, Y.; Hu, H.; Menzel, C.; Chen, W.; Li, Y.; Zeng, R. et al.; Khaitovich, P.: Estimating accuracy of RNA-Seq and microarrays with proteomics. BMC Genomics 10, p. 161 - 161 (2009)
  19. 19.
    Journal Article
    Ender, C.; Krek, A.; Friedländer, M. R.; Beitzinger, M.; Weinmann, L.; Chen, W.; Pfeffer, S.; Rajewsky, N.; Meister, G.: A human snoRNA with microRNA-like functions. Molecular Cell 32 (4), pp. 519 - 528 (2008)
  20. 20.
    Journal Article
    Erdogan, F.; Larsen, L. A.; Zhang, L.; Tümer, Z.; Tommerup, N.; Chen, W.; Jacobsen, J. R.; Schubert, M.; Jurkatis, J.; Tzschach, A. et al.; Ropers, H. H.; Ullmann, R.: High frequency of submicroscopic genomic aberrations detected by tiling path array CGH in patients with isolated congenital heart disease. Journal of Medical Genetics 11, pp. 705 - 709 (2008)
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