Publikationen von A. Tzschach

J. L. Hoffer, H. Fryssira, A. Konstantinidou, H.-H. Ropers, and A. Tzschach, "Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome)," Clinical Genetics: an international journal of genetics in medicine 83 (1), 92-95 (2013).

Andreas Rump, Laura Hildebrand, Andreas Tzschach, Reinhard Ullmann, Evelin Schrock, and Diana Mitter, "A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring," European journal of human genetics: EJHG ; the official journal of the European Society of Human Genetics 2012, e-e (2012).

Lingli Huang, Lachlan A. Jolly, Saffron Willis-Owen, Alison Gardner, Raman Kumar, Evelyn Douglas, Cheryl Shoubridge, Dagmar Wieczorek, Andreas Tzschach, Monika Cohen, Anna Hackett, Michael Field, Guy Froyen, Hao C. Hu, Stefan Haas, Hans-H. Ropers, Vera M. Kalscheuer, Mark A. Corbett, and Jozef Gecz, "A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability," The American Journal of Human Genetics 91 (4), 694-702 (2012).

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).

D. Braunholz, M. Hullings, M. C. Gil-Rodriguez, C. T. Fincher, M. B. Mallozzi, E. Loy, M. Albrecht, M. Kaur, J. Limon, A. Rampuria, D. Clark, A. Kline, A. Dalski, J. Eckhold, A. Tzschach, R. Hennekam, G. Gillessen-Kaesbach, J. Wierzba, I. D. Krantz, M. A. Deardorff, and F. J. Kaiser, "Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction," European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 20 (3), 271-276 (2012).

M. Höckner, A. Spreiz, A. Frühmesser, A. Tzschach, A. Dufke, O. Rittinger, V. Kalscheuer, S. Singer, M. Erdel, C. Fauth, V. Grossmann, G. Utermann, J. Zschocke, and D. Kotzot, "Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations," Cytogenetics and Genome Research 136 (4), 242-245 (2012).

D. Braunholz, M. Hullings, M. C. Gil-Rodriguez, C. T. Fincher, M. B. Mallozzi, E. Loy, M. Albrecht, M. Kaur, J. Limon, A. Rampuria, D. Clark, A. Kline, A. Dalski, J. Eckhold, A. Tzschach, R. Hennekam, G. Gillessen-Kaesbach, J. Wierzba, I. D. Krantz, M. A. Deardorff, and F. J. Kaiser, "Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction," Eur J Hum Genet (2011).

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. Pagan, H. G. Botros, K. Poirier, A. Dumaine, S. Jamain, S. Moreno, A. de Brouwer, H. Van Esch, R. Delorme, J. M. Launay, A. Tzschach, V. Kalscheuer, D. Lacombe, S. Briault, F. Laumonnier, M. Raynaud, B. W. van Bon, M. H. Willemsen, M. Leboyer, J. Chelly, and T. Bourgeron, "Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability," BMC Med Genet 12, 17 (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).

N. Rademacher, M. Hambrock, U. Fischer, B. Moser, B. Ceulemans, W. Lieb, R. Boor, I. Stefanova, G. Gillessen-Kaesbach, C. Runge, G. C. Korenke, S. Spranger, F. Laccone, A. Tzschach, and V. M. Kalscheuer, "Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features," Neurogenetics 12 (2), 165-7 (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).

N. Rivera-Brugues, B. Albrecht, D. Wieczorek, H. Schmidt, T. Keller, I. Gohring, A. B. Ekici, A. Tzschach, M. Garshasbi, K. Franke, N. Klopp, H. E. Wichmann, T. Meitinger, T. M. Strom, and M. Hempel, "Cohen syndrome diagnosis using whole genome arrays," J Med Genet 48 (2), 136-40 (2011).

G. Strobl-Wildemann, V. M. Kalscheuer, H. Hu, K. Wrogemann, H. H. Ropers, and A. Tzschach, "Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability," Am J Med Genet A 155A (12), 3067-70 (2011).

A. Tzschach, R. Ullmann, A. Ahmed, T. Martin, G. Weber, O. Decker-Schwering, F. Pauly, M. G. Shamdeen, W. Reith, and B. Oehl-Jaschkowitz, "Christianson syndrome in a patient with an interstitial Xq26.3 deletion," Am J Med Genet A 155A (11), 2771-4 (2011).