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Journal Article (32)

  1. 1.
    Journal Article
    Møller, R. S.; Jensen, L. R.; Maas, S. M.; Filmus, J.; Capurro, M.; Hansen, C.; Marcelis, C. L.; Ravn, K.; Andrieux, J.; Mathieu, M. et al.; Kirchhoff, M.; Rodningen, O. K.; de Leeuw, N.; Yntema, H. G.; Froyen, G.; Vandewalle, J.; Ballon, K.; Klopocki, E.; Joss, S.; Tolmie, J.; Knegt, A. C.; Lund, A. M.; Hjalgrim, H.; Kuss, A. W.; Tommerup, N.; Ullmann, R.; de Brouwer, A. P.; Stromme, P.; Kjaergaard, S.; Tumer, Z.; Kleefstra, T.: X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome. Human Genetics 133 (5), pp. 625 - 638 (2014)
  2. 2.
    Journal Article
    Puettmann, L.; Stehr, H.; Garshasbi, M.; Hu, H.; Kahrizi, K.; Lipkowitz, B.; Jamali, P.; Tzschach, A.; Najmabadi, H.; Ropers, H. H. et al.; Musante, L.; Kuss, A. W.: A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. American Journal of Medical Genetics Part A 161A (8), pp. 1915 - 1922 (2013)
  3. 3.
    Journal Article
    Starokadomskyy, P.; Gluck, N.; Li, H.; Chen, B.; Wallis, M.; Maine, G. N.; Mao, X.; Zaidi, I. W.; Hein, M. Y.; McDonald, F. J. et al.; Lenzner, S.; Zecha, A.; Ropers, H. H.; Kuss, A. W.; McGaughran, J.; Gecz, J.; Burstein, E.: CCDC22 deficiency in humans blunts activation of proinflammatory NF-kappaB signaling. The Journal of Clinical Investigation 123 (5), pp. 2244 - 2256 (2013)
  4. 4.
    Journal Article
    Abbasi-Moheb, L.; Mertel, S.; Gonsior, M.; Nouri-Vahid, L.; Kahrizi, K.; Cirak, S.; Wieczorek, D.; Motazacker, M. M.; Esmaeeli-Nieh, S.; Cremer, K. et al.; Weissmann, R.; Tzschach, A.; Garshasbi, M.; Abedini, S. S.; Najmabadi, H.; Ropers, H.-H.; Sigrist, S. J.; Kuss, A. W.: Mutations in NSUN2 cause autosomal-recessive intellectual disability. American Journal of Human Genetics 90 (5), pp. 847 - 855 (2012)
  5. 5.
    Journal Article
    Kelly, S.; Pak, C.; Garshasbi, M.; Kuss, A.; Corbett, A. H.; Moberg, K.: New kid on the ID block: Neural functions of the Nab2/ZC3H14 class of Cys3His tandem zinc-finger polyadenosine RNA binding proteins. RNA Biology 9 (5), pp. 555 - 562 (2012)
  6. 6.
    Journal Article
    Garshasbi, M.; Kahrizi, K.; Hosseini, M.; Nouri Vahid, L.; Falah, M.; Hemmati, S.; Hu, H.; Tzschach, A.; Ropers, H. H.; Najmabadi, H. et al.; Kuss, A. W.: A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. Am J Med Genet A 155A (8), pp. 1976 - 80 (2011)
  7. 7.
    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)
  8. 8.
    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)
  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. Eur J Hum Genet 19 (1), pp. 115 - 7 (2011)
  10. 10.
    Journal Article
    Kuss, A. W.; Garshasbi, M.; Kahrizi, K.; Tzschach, A.; Behjati, F.; Darvish, H.; Abbasi-Moheb, L.; Puettmann, L.; Zecha, A.; Weissmann, R. et al.; Hu, H.; Mohseni, M.; Abedini, S. S.; Rajab, A.; Hertzberg, C.; Wieczorek, D.; Ullmann, R.; Ghasemi-Firouzabadi, S.; Banihashemi, S.; Arzhangi, S.; Hadavi, V.; Bahrami-Monajemi, G.; Kasiri, M.; Falah, M.; Nikuei, P.; Dehghan, A.; Sobhani, M.; Jamali, P.; Ropers, H. H.; Najmabadi, H.: Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum Genet 129 (2), pp. 141 - 8 (2011)
  11. 11.
    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)
  12. 12.
    Journal Article
    Pak, C.; Garshasbi, M.; Kahrizi, K.; Gross, C.; Apponi, L. H.; Noto, J. J.; Kelly, S. M.; Leung, S. W.; Tzschach, A.; Behjati, F. et al.; Abedini, S. S.; Mohseni, M.; Jensen, L. R.; Hu, H.; Huang, B.; Stahley, S. N.; Liu, G.; Williams, K. R.; Burdick, S.; Feng, Y.; Sanyal, S.; Bassell, G. J.; Ropers, H. H.; Najmabadi, H.; Corbett, A. H.; Moberg, K. H.; Kuss, A. W.: Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans. Proc Natl Acad Sci U S A 108 (30), pp. 12390 - 5 (2011)
  13. 13.
    Journal Article
    Rafiq, M. A.; Kuss, A. W.; Puettmann, L.; Noor, A.; Ramiah, A.; Ali, G.; Hu, H.; Kerio, N. A.; Xiang, Y.; Garshasbi, M. et al.; Khan, M. A.; Ishak, G. E.; Weksberg, R.; Ullmann, R.; Tzschach, A.; Kahrizi, K.; Mahmood, K.; Naeem, F.; Ayub, M.; Moremen, K. W.; Vincent, J. B.; Ropers, H. H.; Ansar, M.; Najmabadi, H.: Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet 89 (1), pp. 176 - 82 (2011)
  14. 14.
    Journal Article
    Santos-Reboucas, C. B.; Fintelman-Rodrigues, N.; Jensen, L. R.; Kuss, A. W.; Ribeiro, M. G.; Campos, M.; Santos, J. M.; Pimentel, M. M.: A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay. Neurosci Lett 498 (1), pp. 67 - 71 (2011)
  15. 15.
    Journal Article
    Timmermann, B.; Kerick, M.; Roehr, C.; Fischer, A.; Isau, M.; Boerno, S. T.; Wunderlich, A.; Barmeyer, C.; Seemann, P.; Koenig, J. et al.; Lappe, M.; Kuss, A. W.; Garshasbi, M.; Bertram, L.; Trappe, K.; Werber, M.; Herrmann, B. G.; Zatloukal, K.; Lehrach, H.; Schweiger, M. R.: Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis. PLoS ONE 5 (12), p. e15661 - e15661 (2010)
  16. 16.
    Journal Article
    Darvish, H. ..; Nieh, S. E.; Monajemi, G. B.; Mohseni, M.; Ghasemi-Firouzabadi, S.; Abedini, S. S.; Bahman, I.; P Jamali, P.; Azimi, S.; Mojahedi, F. et al.; Dehghan, A.; Shafeghati, Y.; Jankhah, A.; Falah, M.; Soltani Banavandi, M. J.; Ghani-Kakhi, M.; Garshasbi, M.; Rakhshani, F.; Naghavi, A.; Tzschach, A.; Neitzel, H.; Ropers, H.-H.; Kuss, A. W.; Behjati, F.; Kahrizi, K.; Najmabadi, H.: A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. Journal of Medical Genetics. 47 (12), pp. 823 - 828 (2010)
  17. 17.
    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)
  18. 18.
    Journal Article
    Walczak-Sztulpa, J.; Eggenschwiler, J.; Osborn, D.; Brown, D. A.; Emma, F.; Klingenberg, C.; Hennekam, R. C.; Torre, G.; Garshasbi, M.; Tzschach, A. et al.; Szczepanska, M.; Krawczynski, M.; Zachwieja, J.; Zwolinska, D.; Beales, P. L.; Ropers, H.-H.; Latos-Bielenska, A.; Kuss, A. W.: Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. American Journal of Human Genetics 86 (6), pp. 949 - 956 (2010)
  19. 19.
    Journal Article
    Trimborn, M.; Ghani, M.; Walther, D. J.; Dopatka, M.; Dutrannoy, V.; Busche, A.; Meyer, F.; Nowak, S.; Nowak, J. N.; Zabel, C. et al.; Klose, J.; Esquitino, V.; Garshasbi, M.; Kuss, A. W.; Ropers, H.-H.; Mueller, S.; Poehlmann, C.; Gavvovidis, I.; Schindler, D.; Sperling, K.; Neitzel, H.: Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function. PLoS ONE 5 (2), p. e9242. - e9242. (2010)
  20. 20.
    Journal Article
    Jensen, L. R.; Bartenschlager, H.; Rujirabanjerd, S.; Tzschach, A.; Nümann, A.; Janecke, A. R.; Spörle, R.; Stricker, S.; Raynaud, M.; Nelson, J. et al.; Hackett, A.; Fryns, J.-P.; Chelly, J.; de Brouwer, A. P. M.; Hamel, B.; Gecz, J.; Ropers, H.-H.; Kuss, A. W.: A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C. Pathogenetics 3, p. 2 - 2 (2010)
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