Publikationen von A. W. Kuss

R. S. Møller, L. R. Jensen, S. M. Maas, J. Filmus, M. Capurro, C. Hansen, C. L. Marcelis, K. Ravn, J. Andrieux, M. Mathieu, M. Kirchhoff, O. K. Rodningen, N. de Leeuw, H. G. Yntema, G. Froyen, J. Vandewalle, K. Ballon, E. Klopocki, S. Joss, J. Tolmie, A. C. Knegt, A. M. Lund, H. Hjalgrim, A. W. Kuss, N. Tommerup, R. Ullmann, A. P. de Brouwer, P. Stromme, S. Kjaergaard, Z. Tumer, and T. Kleefstra, "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), 625-638 (2014).

L. Puettmann, H. Stehr, M. Garshasbi, H. Hu, K. Kahrizi, B. Lipkowitz, P. Jamali, A. Tzschach, H. Najmabadi, H. H. Ropers, L. Musante, and A. W. Kuss, "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), 1915-1922 (2013).

P. Starokadomskyy, N. Gluck, H. Li, B. Chen, M. Wallis, G. N. Maine, X. Mao, I. W. Zaidi, M. Y. Hein, F. J. McDonald, S. Lenzner, A. Zecha, H. H. Ropers, A. W. Kuss, J. McGaughran, J. Gecz, and E. Burstein, "CCDC22 deficiency in humans blunts activation of proinflammatory NF-kappaB signaling," The Journal of Clinical Investigation 123 (5), 2244-2256 (2013).

Lia Abbasi-Moheb, Sara Mertel, Melanie Gonsior, Leyla Nouri-Vahid, Kimia Kahrizi, Sebahattin Cirak, Dagmar Wieczorek, M. Mahdi Motazacker, Sahar Esmaeeli-Nieh, Kirsten Cremer, Robert Weissmann, Andreas Tzschach, Masoud Garshasbi, Seyedeh S. Abedini, Hossein Najmabadi, Hans-Hilger Ropers, Stephan J. Sigrist, and Andreas W. Kuss, "Mutations in NSUN2 cause autosomal-recessive intellectual disability," American Journal of Human Genetics 90 (5), 847-855 (2012).

S. Kelly, C. Pak, M. Garshasbi, A. Kuss, A. H. Corbett, and K. Moberg, "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), 555-562 (2012).

M. Garshasbi, K. Kahrizi, M. Hosseini, L. Nouri Vahid, M. Falah, S. Hemmati, H. Hu, A. Tzschach, H. H. Ropers, H. Najmabadi, and A. W. Kuss, "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), 1976-80 (2011).

H. Hu, K. Eggers, W. Chen, M. Garshasbi, M. M. Motazacker, K. Wrogemann, K. Kahrizi, A. Tzschach, M. Hosseini, I. Bahman, T. Hucho, M. Muhlenhoff, R. Gerardy-Schahn, H. Najmabadi, H. H. Ropers, and A. W. Kuss, "ST3GAL3 mutations impair the development of higher cognitive functions," Am J Hum Genet 89 (3), 407-14 (2011).

L. R. Jensen, W. Chen, B. Moser, B. Lipkowitz, C. Schroeder, L. Musante, A. Tzschach, V. M. Kalscheuer, I. Meloni, M. Raynaud, H. van Esch, J. Chelly, A. P. de Brouwer, A. Hackett, S. van der Haar, W. Henn, J. Gecz, O. Riess, M. Bonin, R. Reinhardt, H. H. Ropers, and A. W. Kuss, "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), 717-20 (2011).

K. Kahrizi, C. H. Hu, M. Garshasbi, S. S. Abedini, S. Ghadami, R. Kariminejad, R. Ullmann, W. Chen, H. H. Ropers, A. W. Kuss, H. Najmabadi, and A. Tzschach, "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), 115-7 (2011).

A. W. Kuss, M. Garshasbi, K. Kahrizi, A. Tzschach, F. Behjati, H. Darvish, L. Abbasi-Moheb, L. Puettmann, A. Zecha, R. Weissmann, H. Hu, M. Mohseni, S. S. Abedini, A. Rajab, C. Hertzberg, D. Wieczorek, R. Ullmann, S. Ghasemi-Firouzabadi, S. Banihashemi, S. Arzhangi, V. Hadavi, G. Bahrami-Monajemi, M. Kasiri, M. Falah, P. Nikuei, A. Dehghan, M. Sobhani, P. Jamali, H. H. Ropers, and H. Najmabadi, "Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots," Hum Genet 129 (2), 141-8 (2011).

H. Najmabadi, H. Hu, M. Garshasbi, T. Zemojtel, S. S. Abedini, W. Chen, M. Hosseini, F. Behjati, S. Haas, P. Jamali, A. Zecha, M. Mohseni, L. Puttmann, L. N. Vahid, C. Jensen, L. A. Moheb, M. Bienek, F. Larti, I. Mueller, R. Weissmann, H. Darvish, K. Wrogemann, V. Hadavi, B. Lipkowitz, S. Esmaeeli-Nieh, D. Wieczorek, R. Kariminejad, S. G. Firouzabadi, M. Cohen, Z. Fattahi, I. Rost, F. Mojahedi, C. Hertzberg, A. Dehghan, A. Rajab, M. J. Banavandi, J. Hoffer, M. Falah, L. Musante, V. Kalscheuer, R. Ullmann, A. W. Kuss, A. Tzschach, K. Kahrizi, and H. H. Ropers, "Deep sequencing reveals 50 novel genes for recessive cognitive disorders," Nature 478 (7367), 57-63 (2011).

C. Pak, M. Garshasbi, K. Kahrizi, C. Gross, L. H. Apponi, J. J. Noto, S. M. Kelly, S. W. Leung, A. Tzschach, F. Behjati, S. S. Abedini, M. Mohseni, L. R. Jensen, H. Hu, B. Huang, S. N. Stahley, G. Liu, K. R. Williams, S. Burdick, Y. Feng, S. Sanyal, G. J. Bassell, H. H. Ropers, H. Najmabadi, A. H. Corbett, K. H. Moberg, and A. W. Kuss, "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), 12390-5 (2011).

M. A. Rafiq, A. W. Kuss, L. Puettmann, A. Noor, A. Ramiah, G. Ali, H. Hu, N. A. Kerio, Y. Xiang, M. Garshasbi, M. A. Khan, G. E. Ishak, R. Weksberg, R. Ullmann, A. Tzschach, K. Kahrizi, K. Mahmood, F. Naeem, M. Ayub, K. W. Moremen, J. B. Vincent, H. H. Ropers, M. Ansar, and H. Najmabadi, "Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability," Am J Hum Genet 89 (1), 176-82 (2011).

C. B. Santos-Reboucas, N. Fintelman-Rodrigues, L. R. Jensen, A. W. Kuss, M. G. Ribeiro, M. Campos, J. M. Santos, and M. M. Pimentel, "A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay," Neurosci Lett 498 (1), 67-71 (2011).

B. Timmermann, M. Kerick, C. Roehr, A. Fischer, M. Isau, S. T. Boerno, A. Wunderlich, C. Barmeyer, P. Seemann, J. Koenig, M. Lappe, A. W. Kuss, M. Garshasbi, L. Bertram, K. Trappe, M. Werber, B. G. Herrmann, K. Zatloukal, H. Lehrach, and M. R. Schweiger (ed), "Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis," PLoS ONE 5 (12), e15661-e15661 (2010).

H. . Darvish, Sahar Esmaeeli Nieh, G. B. Monajemi, M. Mohseni, S. Ghasemi-Firouzabadi, S. S. Abedini, I. Bahman, P. P Jamali, S. Azimi, F. Mojahedi, A. Dehghan, Y. Shafeghati, A. Jankhah, M. Falah, M. J. Soltani Banavandi, M. Ghani-Kakhi, M. Garshasbi, F. Rakhshani, A. Naghavi, Andreas Tzschach, H. Neitzel, Hans-Hilger Ropers, Andreas W. Kuss, F. Behjati, K. Kahrizi, and Hossein Najmabadi, "A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.," Journal of Medical Genetics. 47 (12), 823-828 (2010).

Kimia Kahrizi, Cougar Hao Hu, Masoud Garshasbi, Seyedeh Sedigheh Abedini, Shirin Ghadami, Roxana Kariminejad, Reinhard Ullmann, Wei Chen, Hans-Hilger Ropers, Andreas W. Kuss, Hossein Najmabadi, and Andreas Tzschach, "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, 115-117 (2010).

Joanna Walczak-Sztulpa, Jonathan Eggenschwiler, Daniel Osborn, Desmond A. Brown, Francesco Emma, Claus Klingenberg, Raoul C. Hennekam, Giuliano Torre, Masoud Garshasbi, Andreas Tzschach, Malgorzata Szczepanska, Marian Krawczynski, Jacek Zachwieja, Danuta Zwolinska, Philip L. Beales, Hans-Hilger Ropers, Anna Latos-Bielenska, and Andreas W. Kuss, "Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.," American Journal of Human Genetics 86 (6), 949-956 (2010).

Marc Trimborn, Mahdi Ghani, Diego J. Walther, Monika Dopatka, Véronique Dutrannoy, Andreas Busche, Franziska Meyer, Stefanie Nowak, Jean N Nowak, Claus Zabel, Joachim Klose, Veronica Esquitino, Masoud Garshasbi, Andreas W. Kuss, Hans-Hilger Ropers, Susanne Mueller, Charlotte Poehlmann, Ioannis Gavvovidis, Detlev Schindler, Karl Sperling, and Heidemarie Neitzel, "Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function.," PLoS ONE 5 (2), e9242.-e9242. (2010).

Lars R. Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, Andreas Tzschach, Astrid Nümann, Andreas R. Janecke, Ralf Spörle, Sigmar Stricker, Martine Raynaud, John Nelson, Anna Hackett, Jean-Pierre Fryns, Jamel Chelly, Arjan P. M. de Brouwer, Ben Hamel, Jozef Gecz, Hans-Hilger Ropers, and Andreas W. Kuss, "A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C," Pathogenetics 3, 2-2 (2010).