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Journal Article (38)

  1. 1.
    Journal Article
    Jerković, I.; Ibrahim, D.; Andrey, G.; Haas, S.; Hansen, P.; Janetzki, C.; Gonzalez Navarrete, I.; Robinson, P. N.; Hecht, J.; Mundlos, S.: Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF. PLoS Genetics 13 (1) (2017)
  2. 2.
    Journal Article
    Ibrahim, D.; Tayebi, N.; Knaus, A.; Stiege, A. C.; Sahebzamani, A.; Hecht, J.; Mundlos, S.; Spielmann, M.: A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. American Journal of Medical Genetics Part A 170 (3), pp. 615 - 621 (2016)
  3. 3.
    Journal Article
    Emmerich, D.; Zemojtel, T.; Hecht, J.; Krawitz, P.; Spielmann, M.; Kühnisch, J.; Kobus, K.; Oßwald, M.; Heinrich, V.; Berlien, P. et al.; Müller, U.; Mautner, V.-F.; Wimmer, K.; Robinson, P. N.; Vingron, M.; Tinschert, S.; Mundlos, S.; Kolanczyk, M.: Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient. European journal of human genetics 23 (6), pp. 1870 - 1873 (2015)
  4. 4.
    Journal Article
    Maass, P. G.; Aydin, A.; Luft, F. C.; Schachterle, C.; Weise, A.; Stricker, S.; Lindschau, C.; Vaegler, M.; Qadri, F.; Toka, H. R. et al.; Schulz, H.; Krawitz, P. M.; Parkhomchuk, D.; Hecht, J.; Hollfinger, I.; Wefeld-Neuenfeld, Y.; Bartels-Klein, E.; Muhl, A.; Kann, M.; Schuster, H.; Chitayat, D.; Bialer, M. G.; Wienker, T. F.; Ott, J.; Rittscher, K.; Liehr, T.; Jordan, J.; Plessis, G.; Tank, J.; Mai, K.; Naraghi, R.; Hodge, R.; Hopp, M.; Hattenbach, L. O.; Busjahn, A.; Rauch, A.; Vandeput, F.; Gong, M.; Ruschendorf, F.; Hübner, N.; Haller, H.; Mundlos, S.; Bilginturan, N.; Movsesian, M. A.; Klussmann, E.; Toka, O.; Bahring, S.: PDE3A mutations cause autosomal dominant hypertension with brachydactyly. Nature Genetics 47 (6), pp. 647 - 653 (2015)
  5. 5.
    Journal Article
    Lupiáñez, D. G.; Kraft, K.; Heinrich, V.; Krawitz, P.; Brancati, F.; Klopocki, E.; Horn, D.; Kayserili, H.; Opitz, J. M.; Laxova, R. et al.; Santos-Simarro, F.; Gilbert-Dussardier, B.; Wittler, L.; Borschiwer, M.; Haas, S. A.; Osterwalder, M.; Franke, M.; Timmermann, B.; Hecht, J.; Spielmann, M.; Visel, A.; Mundlos, S.: Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions. Cell 161 (5), pp. 1012 - 1025 (2015)
  6. 6.
    Journal Article
    Kolanczyk, M.; Krawitz, P.; Hecht, J.; Hupalowska, A.; Miaczynska, M.; Marschner, K.; Schlack, C.; Emerich, D.; Kobus, K.; Kornak, U. et al.; Robinson, P. N.; Plecko, B.; Grangl, G.; Uhrig, S.; Mundlos, S.; Horn, D.: Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. European journal of human genetics 23, 720 (2015)
  7. 7.
    Journal Article
    Tine, M.; Kuhl, H.; Gagnaire, P.-A.; Louro, B.; Desmarais, E.; Martins, R. S. T.; Hecht, J.; Knaust, F.; Belkhir, K.; Klages, S. et al.; Dieterich, R.; Stueber, K.; Piferrer, F.; Guinand, B.; Bierne, N.; Volckaert, F. A. M.; Bargelloni, L.; Power, D. M.; Bonhomme, F.; Canario, A. V. M.; Reinhardt, R.: European sea bass genome and its variation provide insights into adaptation to euryhalinity and speciation. Nature Communications 5 (5) (2014)
  8. 8.
    Journal Article
    Ehmke, N.; Caliebe, A.; Koenig, R.; Kant, S. G.; Stark, Z.; Cormier-Daire, V.; Wieczorek, D.; Gillessen-Kaesbach, G.; Hoff, K.; Kawalia, A. et al.; Thiele, H.; Altmuller, J.; Fischer-Zirnsak, B.; Knaus, A.; Zhu, N.; Heinrich, V.; Huber, C.; Harabula, I.; Spielmann, M.; Horn, D.; Kornak, U.; Hecht, J.; Krawitz, P. M.; Nurnberg, P.; Siebert, R.; Manzke, H.; Mundlos, S.: Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. The American Journal of Human Genetics 95 (6), pp. 763 - 770 (2014)
  9. 9.
    Journal Article
    Ehmke, N.; Parvaneh, N.; Krawitz, P.; Ashrafi, M. R.; Karimi, P.; Mehdizadeh, M.; Kruger, U.; Hecht, J.; Mundlos, S.; Robinson, P. N.: First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature. American Journal of Medical Genetics Part A 164A (12), pp. 3170 - 3175 (2014)
  10. 10.
    Journal Article
    Zemojtel, T.; Köhler, S.; Mackenroth, L.; Jäger, M.; Hecht, J.; Krawitz, P.; Graul-Neumann, L.; Doelken, S.; Ehmke, N.; Spielmann, M. et al.; Oien, N. C.; Schweiger, M. R.; Krüger, U.; Frommer, G.; Fischer, B.; Kornak, U.; Flöttmann, R.; Ardeshirdavani, A.; Moreau, Y.; Lewis, S. E.; Haendel, M.; Smedley, D.; Horn, D.; Mundlos, S.; Robinson, P. N.: Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Science Translational Madicine 6 (252), 252ra123 (2014)
  11. 11.
    Journal Article
    Krawitz, P. M.; Schiska, D.; Krüger, U.; Appelt, S.; Heinrich, V.; Parkhomchuk, D.; Timmermann, B.; Millan, J. M.; Robinson, P. N.; Mundlos, S. et al.; Hecht, J.; Gross, M.: Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome. Molecular Genetics and Genomic Medicine 2 (5), pp. 393 - 401 (2014)
  12. 12.
    Journal Article
    Kornak, U.; Mademan, I.; Schinke, M.; Voigt, M.; Krawitz, P.; Hecht, J.; Barvencik, F.; Schinke, T.; Giesselmann, S.; Beil, F. T. et al.; Pou-Serradell, A.; Vilchez, J. J.; Beetz, C.; Deconinck, T.; Timmerman, V.; Kaether, C.; De Jonghe, P.; Hubner, C. A.; Gal, A.; Amling, M.; Mundlos, S.; Baets, J.; Kurth, I.: Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain 137 (3), pp. 683 - 692 (2014)
  13. 13.
    Journal Article
    Howard, M. F.; Murakami, Y.; Pagnamenta, A. T.; Daumer-Haas, C.; Fischer, B.; Hecht, J.; Keays, D. A.; Knight, S. J.; Kolsch, U.; Kruger, U. et al.; Leiz, S.; Maeda, Y.; Mitchell, D.; Mundlos, S.; Phillips, J. A.,. 3.; Robinson, P. N.; Kini, U.; Taylor, J. C.; Horn, D.; Kinoshita, T.; Krawitz, P. M.: Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. The American Journal of Human Genetics 94 (2), pp. 278 - 287 (2014)
  14. 14.
    Journal Article
    Ibrahim, D.; Hansen, P.; Rödelsperger, C.; Stiege, A. C.; Doelken, S. C.; Horn, D.; Jäger, M.; Janetzki, C.; Krawitz, P.; Leschik, G. et al.; Wagner, F.; Scheuer, T.; Schmidt-von Kegler, M.; Seemann, P.; Timmermann, B.; Robinson, P. N.; Mundlos, S.; Hecht, J.: Distinct global shifts in genomic binding profiles of limb malformation associated HOXD13 mutations. Genome Research 23 (12), pp. 2091 - 2102 (2013)
  15. 15.
    Journal Article
    Kalsoom, U. E.; Klopocki, E.; Wasif, N.; Tariq, M.; Khan, S.; Hecht, J.; Krawitz, P.; Mundlos, S.; Ahmad, W.: Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A. Journal of Medical Genetics 50 (1), pp. 47 - 53 (2013)
  16. 16.
    Journal Article
    Haghighi, A.; Nikuei, P.; Haghighi-Kakhki, H.; N, H. S.-G.; Baghestani, S.; Krawitz, P. M.; Hecht, J.; Mundlos, S.: Identification of a Novel Missense Mutation in EDAR Causing Autosomal Recessive Hypohidrotic Ectodermal Dysplasia with Bilateral Amastia and Palmoplantar Hyperkeratosis. British Journal of Dermatology 2012, p. e - e (2012)
  17. 17.
    Journal Article
    Spielmann, M.; Brancati, F.; Krawitz, P. M.; Robinson, P. N.; Ibrahim, D. M.; Franke, M.; Hecht, J.; Lohan, S.; Dathe, K.; Nardone, A. M. et al.; Ferrari, P.; Landi, A.; Wittler, L.; Timmermann, B.; Chan, D.; Mennen, U.; Klopocki, E.; Mundlos, S.: Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. American Journal of Human Genetics 91 (4), pp. 629 - 635 (2012)
  18. 18.
    Journal Article
    Krawitz, P. M.; Murakami, Y.; Hecht, J.; Kruger, U.; Holder, S. E.; Mortier, G. R.; Delle Chiaie, B.; De Baere, E.; Thompson, M. D.; Roscioli, T. et al.; Kielbasa, S. M.; Kinoshita, T.; Mundlos, S.; Robinson, P. N.; Horn, D.: Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. American Journal of Human Genetics 91 (1), pp. 146 - 151 (2012)
  19. 19.
    Journal Article
    Heinrich, V.; Stange, J.; Dickhaus, T.; Imkeller, P.; Kruger, U.; Bauer, S.; Mundlos, S.; Robinson, P. N.; Hecht, J.; Krawitz, P. M.: The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process. Nucleic Acids Research (London) 40 (6), pp. 2426 - 2431 (2012)
  20. 20.
    Journal Article
    Klopocki, E.; Lohan, S.; Brancati, F.; Koll, R.; Brehm, A.; Seemann, P.; Dathe, K.; Stricker, S.; Hecht, J.; Bosse, K. et al.; Betz, R. C.; Garaci, F. G.; Dallapiccola, B.; Jain, M.; Muenke, M.; Ng, V. C.; Chan, W.; Chan, D.; Mundlos, S.: Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. American Journal of Human Genetics 88 (1), pp. 70 - 75 (2011)
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