Publikationen von R. Ullmann

H. Hu, S. A. Haas, J. Chelly, H. Van Esch, M. Raynaud, A. P. M. de Brouwer, S. Weinert, G. Froyen, S. G. M. Frints, F. Laumonnier, T. Zemojtel, M. I. Love, H. Richard, A.-K. Emde, M. Bienek, C. Jensen, M. Hambrock, U. Fischer, C. Langnick, M. Feldkamp, W. Wissink-Lindhout, N. Lebrun, L. Castelnau, J. Rucci, R. Montjean, O. Dorseuil, P. Billuart, T. Stuhlmann, M. Shaw, M. A. Corbett, A. Gardner, S. Willis-Owen, C. Tan, K. L. Friend, S. Belet, K. E. P. van Roozendaal, M. Jimenez-Pocquet, M.-P. Moizard, N. Ronce, R. Sun, S. O'Keeffe, R. Chenna, A. van Bömmel, J. Göke, A. Hackett, M. Field, L. Christie, J. Boyle, E. Haan, J. Nelson, G. Turner, G. Baynam, G. Gillessen-Kaesbach, U. Müller, D. Steinberger, B. Budny, M. Badura-Stronka, A. Latos-Bieleńska, L. B. Ousager, P. Wieacker, G. Rodríguez Criado, M.-L. Bondeson, G. Annerén, A. Dufke, M. Cohen, L. Van Maldergem, C. Vincent-Delorme, B. Echenne, B. Simon-Bouy, T. Kleefstra, M. Willemsen, J.-P. Fryns, K. Devriendt, R. Ullmann, M. Vingron, K. Wrogemann, T. F. Wienker, A. Tzschach, H. van Bokhoven, J. Gecz, T. J. Jentsch, W. Chen, H.-H. Ropers, and V. M. Kalscheuer, "X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes," Molecular Psychiatry 21 (1), 133-148 (2016).

K. R. Jun, R. Ullmann, S. Khan, L. C. Layman, and H.-G. Kim, "Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up," Molecular Cytogenetics 2014, 7:52 (2014).

B. Bhagavath, L. C. Layman, R. Ullmann, Y. Shen, K. Ha, K. Rehman, S. Looney, P. G. McDonough, H. G. Kim, and B. R. Carr, "Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene," Molecular and Cellular Endocrinology 393 (1-2), 1-7 (2014).

A. Thorwarth, S. Schnittert-Hübener, P. Schrumpf, I. Müller, S. Jyrch, C. Dame, H. Biebermann, G. Kleinau, J. Katchanov, M. Schuelke, G. Ebert, A. Steininger, C. Bonnemann, K. Brockmann, H. J. Christen, P. Crock, F. deZegher, M. Griese, J. Hewitt, S. Ivarsson, C. Hübner, K. Kapelari, B. Plecko, D. Rating, I. Stoeva, H. H. Ropers, A. Grüters, R. Ullmann, and H. Krude, "Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum," Journal of Medical Genetics 51 (6), 375-387 (2014).

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).

A. Bokemeyer, C. Eckert, F. Meyr, G. Koerner, A. von Stackelberg, R. Ullmann, S. Turkmen, G. Henze, and K. Seeger, "Copy number genome alterations are associated with treatment response and outcome in relapsed childhood ETV6/RUNX1-positive acute lymphoblastic leukemia," Haematologica 99 (4), 706-714 (2014).

A. Bokemeyer, C. Eckert, F. Meyr, G. Koerner, A. von Stackelberg, R. Ullmann, S. Türkmen, G. Henze, and K. Seeger, "Copy number genome alterations are associated with treatment response and outcome in relapsed childhood ETV6/RUNX1-positive acute lymphoblastic leukemia," Haematologica 99 (4), 706-714 (2014).

Grit Ebert, Anne Steininger, Robert Weissmann, Vivien Boldt, Allan Lind-Thomsen, Jana Grune, Stefan Badelt, Melanie Hessler, Matthias Peiser, Manuel Hitzler, Lars R. Jensen, Ines Müller, Hao Hu, Peter F. Arndt, Andreas W. Kuss, Katrin Tebel, and Reinhard Ullmann, "Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7," BMC Genomics 15, 15:537-15:537 (2014).

A. Rump, L. Hildebrand, A. Tzschach, R. Ullmann, E. Schrock, and D. 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 21 (8), 887-890 (2013).

W. Onkes, R. Fredrik, F. Micci, B. J. Schonbeck, J. I. Martin-Subero, R. Ullmann, F. Hilpert, K. Brautigam, O. Janssen, N. Maass, R. Siebert, S. Heim, N. Arnold, and J. Weimer, "Breakpoint characterization of the der(19)t(11;19)(q13;p13) in the ovarian cancer cell line SKOV-3," Genes, Chromosomes and Cancer 52 (5), 512-522 (2013).

M. Gilling, H. B. Rasmussen, K. Calloe, A. F. Sequeira, M. Baretto, G. Oliveira, J. Almeida, M. B. Lauritsen, R. Ullmann, S. E. Boonen, K. Brondum-Nielsen, V. M. Kalscheuer, Z. Tumer, A. M. Vicente, N. Schmitt, and N. Tommerup, "Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders," Frontiers in Genetics 4, 4:54-4:54 (2013).

Stella-Amrei Kunde, Nils Rademacher, Andreas Tzschach, Eberhard Wiedersberg, Reinhard Ullmann, Vera M. Kalscheuer, and Sarah A. Shoichet, "Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients," Human Genetics 132 (4), 461-471 (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).

H.-G. Kim, H. T. Kim, N. T. Leach, F. Lan, R. Ullmann, A. Silahtaroglu, I. Kurth, A. Nowka, I. S. Seong, Y. Shen, M. E. Talkowski, D. Ruderfer, J. H. Lee, C. Glotzbach, K. Ha, S. Kjaergaard, A. V. Levin, B. F. Romeike, T. Kleefstra, O. Bartsch, S. H. Elsea, E. W. Jabs, M. E. Macdonald, D. J. Harris, B. J. Quade, H.-H. Ropers, L. G. Shaffer, K. Kutsche, L. C. Layman, N. Tommerup, V. M. Kalscheuer, Y. Shi, C. C. Morton, C. H. Kim, and J. F. Gusella, "Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies," The American Journal of Human Genetics 91 (1), 56-72 (2012).

P. Huppke, C. Brendel, V. Kalscheuer, G. C. Korenke, I. Marquardt, P. Freisinger, J. Christodoulou, M. Hillebrand, G. Pitelet, C. Wilson, U. Gruber-Sedlmayr, R. Ullmann, S. Haas, O. Elpeleg, G. Nürnberg, P. Nürnberg, S. Dad, L. B. Møller, S. G. Kaler, and J. Gärtner, "Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin," The American Journal of Human Genetics 90 (1), 61-8 (2012).

R. Buonincontri, I. Bache, A. Silahtaroglu, C. Elbro, A. M. Nielsen, R. Ullmann, G. Arkesteijn, and N. Tommerup, "A cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1," Behav Genet 41 (1), 125-33 (2011).

T. Fullston, B. Gabb, D. Callen, R. Ullmann, E. Woollatt, S. Bain, H. H. Ropers, M. Cooper, D. Chandler, K. Carter, A. Jablensky, L. Kalaydjieva, and J. Gecz, "Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia," Am J Med Genet B Neuropsychiatr Genet 156 (2), 204-14 (2011).

M. Gilling, A. Lind-Thomsen, Y. Mang, M. Bak, M. Moller, R. Ullmann, U. Kristoffersson, V. M. Kalscheuer, K. F. Henriksen, M. Bugge, Z. Tumer, and N. Tommerup, "Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation," Eur J Med Genet 54 (4), e383-8 (2011).

A. Gregor, B. Albrecht, I. Bader, E. K. Bijlsma, A. B. Ekici, H. Engels, K. Hackmann, D. Horn, J. Hoyer, J. Klapecki, J. Kohlhase, I. Maystadt, S. Nagl, E. Prott, S. Tinschert, R. Ullmann, E. Wohlleber, G. Woods, A. Reis, A. Rauch, and C. Zweier, "Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1," BMC Med Genet 12, 106 (2011).

L. P. Jakobsen, M. Bugge, R. Ullmann, C. K. Schjerling, R. Borup, L. Hansen, H. Eiberg, and N. Tommerup, "500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip," Am J Med Genet A 155A (3), 652-5 (2011).