Publikationen von A. Tzschach

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

Rump, A.; Hildebrand, L.; Tzschach, A.; Ullmann, R.; Schrock, E.; Mitter, D.: 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, S. e - e (2012)

Huang, L.; Jolly, L. A.; Willis-Owen, S.; Gardner, A.; Kumar, R.; Douglas, E.; Shoubridge, C.; Wieczorek, D.; Tzschach, A.; Cohen, M. et al.; Hackett, A.; Field, M.; Froyen, G.; Hu, H. C.; Haas, S.; Ropers, H.-H.; Kalscheuer, V. M.; Corbett, M. A.; Gecz, J.: A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. The American Journal of Human Genetics 91 (4), S. 694 - 702 (2012)

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), S. 847 - 855 (2012)

Braunholz, D.; Hullings, M.; Gil-Rodriguez, M. C.; Fincher, C. T.; Mallozzi, M. B.; Loy, E.; Albrecht, M.; Kaur, M.; Limon, J.; Rampuria, A. et al.; Clark, D.; Kline, A.; Dalski, A.; Eckhold, J.; Tzschach, A.; Hennekam, R.; Gillessen-Kaesbach, G.; Wierzba, J.; Krantz, I. D.; Deardorff, M. A.; Kaiser, F. J.: 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), S. 271 - 276 (2012)

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

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

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), S. 1976 - 80 (2011)

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), S. 407 - 14 (2011)

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), S. 717 - 20 (2011)

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), S. 115 - 7 (2011)

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), S. 141 - 8 (2011)

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), S. 57 - 63 (2011)

Pagan, C.; Botros, H. G.; Poirier, K.; Dumaine, A.; Jamain, S.; Moreno, S.; de Brouwer, A.; Van Esch, H.; Delorme, R.; Launay, J. M. et al.; Tzschach, A.; Kalscheuer, V.; Lacombe, D.; Briault, S.; Laumonnier, F.; Raynaud, M.; van Bon, B. W.; Willemsen, M. H.; Leboyer, M.; Chelly, J.; Bourgeron, T.: Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability. BMC Med Genet 12, S. 17 (2011)

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), S. 12390 - 5 (2011)

Rademacher, N.; Hambrock, M.; Fischer, U.; Moser, B.; Ceulemans, B.; Lieb, W.; Boor, R.; Stefanova, I.; Gillessen-Kaesbach, G.; Runge, C. et al.; Korenke, G. C.; Spranger, S.; Laccone, F.; Tzschach, A.; Kalscheuer, V. M.: 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), S. 165 - 7 (2011)

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), S. 176 - 82 (2011)

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

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

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