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Journal Article (119)

  1. 1.
    Journal Article
    Hu, H.; Haas, S. A.; Chelly, J.; Van Esch, H.; Raynaud, M.; de Brouwer, A. P. M.; Weinert, S.; Froyen, G.; Frints, S. G. M.; Laumonnier, F. et al.; Zemojtel, T.; Love, M. I.; Richard, H.; Emde, A.-K.; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; Wissink-Lindhout, W.; Lebrun, N.; Castelnau, L.; Rucci, J.; Montjean, R.; Dorseuil, O.; Billuart, P.; Stuhlmann, T.; Shaw, M.; Corbett, M. A.; Gardner, A.; Willis-Owen, S.; Tan, C.; Friend, K. L.; Belet, S.; van Roozendaal, K. E. P.; Jimenez-Pocquet, M.; Moizard, M.-P.; Ronce, N.; Sun, R.; O'Keeffe, S.; Chenna, R.; van Bömmel, A.; Göke, J.; Hackett, A.; Field, M.; Christie, L.; Boyle, J.; Haan, E.; Nelson, J.; Turner, G.; Baynam, G.; Gillessen-Kaesbach, G.; Müller, U.; Steinberger, D.; Budny, B.; Badura-Stronka, M.; Latos-Bieleńska, A.; Ousager, L. B.; Wieacker, P.; Rodríguez Criado, G.; Bondeson, M.-L.; Annerén, G.; Dufke, A.; Cohen, M.; Van Maldergem, L.; Vincent-Delorme, C.; Echenne, B.; Simon-Bouy, B.; Kleefstra, T.; Willemsen, M.; Fryns, J.-P.; Devriendt, K.; Ullmann, R.; Vingron, M.; Wrogemann, K.; Wienker, T. F.; Tzschach, A.; van Bokhoven, H.; Gecz, J.; Jentsch, T. J.; Chen, W.; Ropers, H.-H.; Kalscheuer, V. M.: X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Molecular Psychiatry 21 (1), pp. 133 - 148 (2016)
  2. 2.
    Journal Article
    Jun, K. R.; Ullmann, R.; Khan, S.; Layman, L. C.; Kim, H.-G.: Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up. Molecular Cytogenetics 2014 (2014)
  3. 3.
    Journal Article
    Bhagavath, B.; Layman, L. C.; Ullmann, R.; Shen, Y.; Ha, K.; Rehman, K.; Looney, S.; McDonough, P. G.; Kim, H. G.; Carr, B. R.: Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene. Molecular and Cellular Endocrinology 393 (1-2), pp. 1 - 7 (2014)
  4. 4.
    Journal Article
    Thorwarth, A.; Schnittert-Hübener, S.; Schrumpf, P.; Müller, I.; Jyrch, S.; Dame, C.; Biebermann, H.; Kleinau, G.; Katchanov, J.; Schuelke, M. et al.; Ebert, G.; Steininger, A.; Bonnemann, C.; Brockmann, K.; Christen, H. J.; Crock, P.; deZegher, F.; Griese, M.; Hewitt, J.; Ivarsson, S.; Hübner, C.; Kapelari, K.; Plecko, B.; Rating, D.; Stoeva, I.; Ropers, H. H.; Grüters, A.; Ullmann, R.; Krude, H.: Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum. Journal of Medical Genetics 51 (6), pp. 375 - 387 (2014)
  5. 5.
    Journal Article
    Møller, R. S.; Jensen, L. R.; Maas, S. M.; Filmus, J.; Capurro, M.; Hansen, C.; Marcelis, C. L.; Ravn, K.; Andrieux, J.; Mathieu, M. et al.; Kirchhoff, M.; Rodningen, O. K.; de Leeuw, N.; Yntema, H. G.; Froyen, G.; Vandewalle, J.; Ballon, K.; Klopocki, E.; Joss, S.; Tolmie, J.; Knegt, A. C.; Lund, A. M.; Hjalgrim, H.; Kuss, A. W.; Tommerup, N.; Ullmann, R.; de Brouwer, A. P.; Stromme, P.; Kjaergaard, S.; Tumer, Z.; Kleefstra, T.: 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), pp. 625 - 638 (2014)
  6. 6.
    Journal Article
    Bokemeyer, A.; Eckert, C.; Meyr, F.; Koerner, G.; von Stackelberg, A.; Ullmann, R.; Turkmen, S.; Henze, G.; Seeger, K.: Copy number genome alterations are associated with treatment response and outcome in relapsed childhood ETV6/RUNX1-positive acute lymphoblastic leukemia. Haematologica 99 (4), pp. 706 - 714 (2014)
  7. 7.
    Journal Article
    Bokemeyer, A.; Eckert, C.; Meyr, F.; Koerner, G.; von Stackelberg, A.; Ullmann, R.; Türkmen, S.; Henze, G.; Seeger, K.: Copy number genome alterations are associated with treatment response and outcome in relapsed childhood ETV6/RUNX1-positive acute lymphoblastic leukemia. Haematologica 99 (4), pp. 706 - 714 (2014)
  8. 8.
    Journal Article
    Ebert, G.; Steininger, A.; Weissmann, R.; Boldt, V.; Lind-Thomsen, A.; Grune, J.; Badelt, S.; Hessler, M.; Peiser, M.; Hitzler, M. et al.; Jensen, L. R.; Müller, I.; Hu, H.; Arndt, P. F.; Kuss, A. W.; Tebel, K.; Ullmann, R.: Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7. BMC Genomics 15, p. 15:537 - 15:537 (2014)
  9. 9.
    Journal Article
    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 21 (8), pp. 887 - 890 (2013)
  10. 10.
    Journal Article
    Onkes, W.; Fredrik, R.; Micci, F.; Schonbeck, B. J.; Martin-Subero, J. I.; Ullmann, R.; Hilpert, F.; Brautigam, K.; Janssen, O.; Maass, N. et al.; Siebert, R.; Heim, S.; Arnold, N.; Weimer, J.: 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), pp. 512 - 522 (2013)
  11. 11.
    Journal Article
    Gilling, M.; Rasmussen, H. B.; Calloe, K.; Sequeira, A. F.; Baretto, M.; Oliveira, G.; Almeida, J.; Lauritsen, M. B.; Ullmann, R.; Boonen, S. E. et al.; Brondum-Nielsen, K.; Kalscheuer, V. M.; Tumer, Z.; Vicente, A. M.; Schmitt, N.; Tommerup, N.: Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders. Frontiers in Genetics 4 (2013)
  12. 12.
    Journal Article
    Kunde, S.-A.; Rademacher, N.; Tzschach, A.; Wiedersberg, E.; Ullmann, R.; Kalscheuer, V. M.; Shoichet, S. A.: Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients. Human Genetics 132 (4), pp. 461 - 471 (2013)
  13. 13.
    Journal Article
    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, p. e - e (2012)
  14. 14.
    Journal Article
    Kim, H.-G.; Kim, H. T.; Leach, N. T.; Lan, F.; Ullmann, R.; Silahtaroglu, A.; Kurth, I.; Nowka, A.; Seong, I. S.; Shen, Y. et al.; Talkowski, M. E.; Ruderfer, D.; Lee, J. H.; Glotzbach, C.; Ha, K.; Kjaergaard, S.; Levin, A. V.; Romeike, B. F.; Kleefstra, T.; Bartsch, O.; Elsea, S. H.; Jabs, E. W.; Macdonald, M. E.; Harris, D. J.; Quade, B. J.; Ropers, H.-H.; Shaffer, L. G.; Kutsche, K.; Layman, L. C.; Tommerup, N.; Kalscheuer, V. M.; Shi, Y.; Morton, C. C.; Kim, C. H.; Gusella, J. F.: 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), pp. 56 - 72 (2012)
  15. 15.
    Journal Article
    Huppke, P.; Brendel, C.; Kalscheuer, V.; Korenke, G. C.; Marquardt, I.; Freisinger, P.; Christodoulou, J.; Hillebrand, M.; Pitelet, G.; Wilson, C. et al.; Gruber-Sedlmayr, U.; Ullmann, R.; Haas, S.; Elpeleg, O.; Nürnberg, G.; Nürnberg, P.; Dad, S.; Møller, L. B.; Kaler, S. G.; Gärtner, J.: 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), pp. 61 - 8 (2012)
  16. 16.
    Journal Article
    Buonincontri, R.; Bache, I.; Silahtaroglu, A.; Elbro, C.; Nielsen, A. M.; Ullmann, R.; Arkesteijn, G.; Tommerup, N.: A cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1. Behav Genet 41 (1), pp. 125 - 33 (2011)
  17. 17.
    Journal Article
    Fullston, T.; Gabb, B.; Callen, D.; Ullmann, R.; Woollatt, E.; Bain, S.; Ropers, H. H.; Cooper, M.; Chandler, D.; Carter, K. et al.; Jablensky, A.; Kalaydjieva, L.; Gecz, J.: 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), pp. 204 - 14 (2011)
  18. 18.
    Journal Article
    Gilling, M.; Lind-Thomsen, A.; Mang, Y.; Bak, M.; Moller, M.; Ullmann, R.; Kristoffersson, U.; Kalscheuer, V. M.; Henriksen, K. F.; Bugge, M. et al.; Tumer, Z.; Tommerup, N.: Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation. Eur J Med Genet 54 (4), pp. e383 - 8 (2011)
  19. 19.
    Journal Article
    Gregor, A.; Albrecht, B.; Bader, I.; Bijlsma, E. K.; Ekici, A. B.; Engels, H.; Hackmann, K.; Horn, D.; Hoyer, J.; Klapecki, J. et al.; Kohlhase, J.; Maystadt, I.; Nagl, S.; Prott, E.; Tinschert, S.; Ullmann, R.; Wohlleber, E.; Woods, G.; Reis, A.; Rauch, A.; Zweier, C.: Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet 12, p. 106 (2011)
  20. 20.
    Journal Article
    Jakobsen, L. P.; Bugge, M.; Ullmann, R.; Schjerling, C. K.; Borup, R.; Hansen, L.; Eiberg, H.; Tommerup, N.: 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), pp. 652 - 5 (2011)
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