Publikationen von R. Ullmann

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).

R. Kariminejad, A. Lind-Thomsen, Z. Tumer, F. Erdogan, H. H. Ropers, N. Tommerup, R. Ullmann, and R. S. Moller, "High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations," Hum Mutat 32 (12), 1427-35 (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).

K. P. Lesch, S. Selch, T. J. Renner, C. Jacob, T. T. Nguyen, T. Hahn, M. Romanos, S. Walitza, S. Shoichet, A. Dempfle, M. Heine, A. Boreatti-Hummer, J. Romanos, S. Gross-Lesch, H. Zerlaut, T. Wultsch, S. Heinzel, M. Fassnacht, A. Fallgatter, B. Allolio, H. Schafer, A. Warnke, A. Reif, H. H. Ropers, and R. Ullmann, "Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree," Mol Psychiatry 16 (5), 491-503 (2011).

D. Mitter, R. Ullmann, A. Muradyan, L. Klein-Hitpass, D. Kanber, K. Ounap, M. Kaulisch, and D. Lohmann, "Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions," Eur J Hum Genet 19 (9), 947-58 (2011).

A. Muradyan, K. Gilbertz, S. Stabentheiner, S. Klause, H. Madle, V. Meineke, R. Ullmann, and H. Scherthan, "Acute high-dose X-radiation-induced genomic changes in A549 cells," Radiat Res 175 (6), 700-7 (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).

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).

F. Ropers, E. Derivery, H. Hu, M. Garshasbi, M. Karbasiyan, M. Herold, G. Nurnberg, R. Ullmann, A. Gautreau, K. Sperling, R. Varon, and A. Rajab, "Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP," Hum Mol Genet 20 (13), 2585-90 (2011).

E. Stacher, V. Boldt, S. Leibl, I. Halbwedl, H. H. Popper, R. Ullmann, F. A. Tavassoli, and F. Moinfar, "Chromosomal aberrations as detected by array comparative genomic hybridization in early low-grade intraepithelial neoplasias of the breast," Histopathology 59 (3), 549-55 (2011).

A. Steininger, M. Mobs, R. Ullmann, K. Kochert, S. Kreher, B. Lamprecht, I. Anagnostopoulos, M. Hummel, J. Richter, M. Beyer, M. Janz, C. D. Klemke, H. Stein, B. Dorken, W. Sterry, E. Schrock, S. Mathas, and C. Assaf, "Genomic loss of the putative tumor suppressor gene E2A in human lymphoma," J Exp Med 208 (8), 1585-93 (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).

Andreas Walter Kuss, Masoud Garshasbi, Kimia Kahrizi, Andreas Tzschach, Farkhondeh Behjati, Hossein Darvish, Lia Abbasi-Moheb, Lucia Puettmann, Agnes Zecha, Robert Weißmann, Hao Hu, Marzieh Mohseni, Seyedeh Sedigheh Abedini, Anna Rajab, Christoph Hertzberg, Dagmar Wieczorek, Reinhard Ullmann, Saghar Saghar Ghasemi-Firouzabadi, Susan Banihashemi, Sanaz Arzhangi, Valeh Hadavi, Gholamreza Bahrami-Monajemi, Mahboubeh Kasiri, Masoumeh Falah, Pooneh Nikuei, Atefeh Dehghan, Masoumeh Sobhani, Payman Jamali, Hans-Hilger Ropers, and Hossein Najmabadi, "Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 nvel loci and several mutation hotspots," Human Genetics 129 (2), 141-148 (2010).

Hyung-Goo Kim, Jang-Won Ahn, Ingo Kurth, Reinhard Ullmann, Hyun-Taek Kim, Anita Kulharya, Kyung-Soo Ha, Yasuhide Itokawa, Irene Meliciani, Wolfgang Wenzel Wolfgang Wenzel, Deresa Lee, Georg Rosenberger, Metin Ozata, David P. Bick, Richard J. Sherins, Takahiro Nagase, Mustafa Tekin, Soo-Hyun Kim, Cheol-Hee Kim, Hans-Hilger Ropers, James F. Gusella, Vera M. Kalscheuer, Cheol Yong Choi, and Lawrence C. Layman, "WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.," American Society of Human Genetics 87 (4), 465-479 (2010).

Roberta Buonincontri, Iben Bache, Asli Silahtaroglu, Carsten Elbro, Anne-Mette Veber Nielsen, Reinhard Ullmann, Ger Arkesteijn, and Niels Tommerup, "Cohort of Balanced Reciprocal Translocations Associated with Dyslexia: Identification of Two Putative Candidate Genes at DYX1.," Learning Disabilities , 125-133 (2010).

Ariana Kariminejad, Roxana Kariminejad, Andreas Tzschach, Hamid Najafi, Alischo Ahmed, Reinhard Ullmann, Hans-Hilger Ropers, and Mohamad Hasan Kariminejad, "11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features.," American Journal of Medical Genetics. Part A. 152A (10), 2651-2655 (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).

Clelia Tiziana Storlazzi, Angelo Lonoce, Maria C. Guastadisegni, Domenico Trombetta, Pietro D'Addabbo, Giulia Daniele, Alberto L'Abbate, Gemma Macchia, Cecilia Surace, Klaas Kok, Reinhard Ullmann, Stefania Purgato, Orazio Palumbo, Massimo Carella, Peter F. Ambros, and Mariano Rocchi, "Gene amplification as double minutes or homogeneously staining regions in solid tumors: Origin and structure," Genome Research 20 (9), 1198-1206 (2010).

A. Thorwarth, I. Mueller, H. Biebermann, Hans-Hilger Ropers, A. Grueters, H. Krude, and Reinhard Ullmann, "Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis.," The Journal of Clinical Endocrinology & Metabolism 95 (7), 3446-3452 (2010).

C. Nur Semerci, Mine Cinbis, Reinhard Ullmann, Anne Steininger, Muhterem Bahce, Baki Yagci, Serap Ozden, Nuran Sabir, Dilihan Gumus, Emre Tepeli, Jazmín Arteaga, and Osvaldo M. Mutchinick, "Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome.," American Journal of Medical Genetics Part A 152A (7), 1724-1729 (2010).