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Zeitschriftenartikel (210)

  1. 1.
    Zeitschriftenartikel
    Kragesteen , B. K.; Spielmann, M.; Paliou, C.; Heinrich, V.; Schöpflin, R.; Esposito, A.; Annunziatella, C.; Bianco , S.; Chiariello, A. M.; Jerković , I. et al.; Harabula, I.; Guckelberger, P.; Pechstein, M.; Wittler, L.; Chan, W.-L.; Franke, M.; Lupiáñez , D. G.; Kraft, K.; Timmermann, B.; Vingron, M.; Visel, A.; Nicodemi, M.; Mundlos, S.; Andrey, G.: Dynamic 3D chromatin architecture determines enhancer specificity and morphogenetic identity in limb development. Nature Genetics 50 (10), S. 1463 - 1473 (2018)
  2. 2.
    Zeitschriftenartikel
    Ehmke, N.; Graul-Neumann, L.; Smorag, L.; Koenig, R.; Segebrecht, L.; Magoulas, P.; Scaglia, F.; Kilic, E.; Hennig, A. F.; Adolphs, N. et al.; Saha, N.; Fauler, B.; Kalscheuer, V. M.; Hennig, F.; Altmüller, J.; Netzer, C.; Thiele, H.; Nürnberg, P.; Yigit, G.; Jäger, M.; Hecht, J.; Krüger, U.; Mielke, T.; Krawitz, P. M.; Horn, D.; Schuelke, M.; Mundlos, S.; Bacino, C. A.; Bonnen, P. E.; Wollnik, B.; Fischer-Zirnsak, B.; Kornak, U.: De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. The American Journal of Human Genetics 101 (5), S. 833 - 843 (2017)
  3. 3.
    Zeitschriftenartikel
    Will , A. J.; Cova, G.; Osterwalder, M.; Chan, W. L.; Wittler, L.; Brieske, N.; Heinrich, V.; de Villartay, J. P.; Vingron, M.; Klopocki, E. et al.; Visel, A.; Lupianez, D. G.; Mundlos, S.: Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog). Nature Genetics 49 (10), S. 1539 - 1545 (2017)
  4. 4.
    Zeitschriftenartikel
    Andrey, G.; Schöpflin, R.; Jerković, I.; Heinrich, V.; Ibrahim, D.; Paliou, C.; Hochradel, M.; Timmermann, B.; Haas, S.; Vingron, M. et al.; Mundlos, S.: Characterization of hundreds of regulatory landscapes in developing limbs reveals two regimes of chromatin folding. Genome Research 27 (2), S. 223 - 233 (2017)
  5. 5.
    Zeitschriftenartikel
    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 (2017)
  6. 6.
    Zeitschriftenartikel
    Franke, M.; Ibrahim, D.; Andrey, G.; Schwarzer, W.; Heinrich, V.; Schöpflin, R.; Kraft, K.; Kempfer, R.; Jerković, I.; Chan, W.-L. et al.; Spielmann, M.; Timmermann, B.; Wittler, L.; Kurth, I.; Cambiaso, P.; Zuffardi, O.; Houge, G.; Lambie, L.; Brancati, F.; Pombo, A.; Vingron, M.; Spitz, F.; Mundlos, S.: Formation of novel chromatin domains determines pathogenicity of genomic duplications. Nature 538 (7624), S. 265 - 269 (2016)
  7. 7.
    Zeitschriftenartikel
    Spielmann, M.; Mundlos, S.: Looking beyond the genes: the role of non-coding variants in human disease. Human Molecular Genetics 25 (R2), S. R157 - R165 (2016)
  8. 8.
    Zeitschriftenartikel
    Seifert, W.; Posor, Y.; Schu, P.; Stenbeck, G.; Mundlos, S.; Klaassen, S.; Nurnberg, P.; Haucke, V.; Kornak, U.; Kühnisch, J.: The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface. Human Molecular Genetics 25 (17), S. 3836 - 3848 (2016)
  9. 9.
    Zeitschriftenartikel
    Heinrich, V.; Kamphans, T.; Mundlos, S.; Robinson, P. N.; Krawitz, P. M.: A likelihood ratio based method to predict exact pedigrees for complex families from next-generation sequencing data. Bioinformatics (2016)
  10. 10.
    Zeitschriftenartikel
    Flöttmann, R.; Sowinska-Seidler, A.; Lavie, J.; Chateil, J. F.; Lacombe, D.; Mundlos, S.; Horn, D.; Spielmann, M.: Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. European journal of human genetics 24 (8), S. 1132 - 1136 (2016)
  11. 11.
    Zeitschriftenartikel
    Knaus, A.; Awaya, T.; Helbig, I.; Afawi, Z.; Pendziwiat, M.; Abu-Rachma, J.; Thompson, M. D.; Cole, D. E.; Skinner, S.; Annese, F. et al.; Canham, N.; Schweiger, M. R.; Robinson, P. N.; Mundlos, S.; Kinoshita, T.; Munnich, A.; Murakami, Y.; Horn, D.; Krawitz, P. M.: Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. Human Mutations 37 (8), S. 737 - 744 (2016)
  12. 12.
    Zeitschriftenartikel
    Spielmann, M.; Marx, S.; Barbi, G.; Flottmann, R.; Kehrer-Sawatzki, H.; Konig, R.; Horn, D.; Mundlos, S.; Nader, S.; Borck, G.: Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement. American Journal of Medical Genetics Part A 170A (5), S. 1202 - 1207 (2016)
  13. 13.
    Zeitschriftenartikel
    Lupiáñez, D. G.; Spielmann, M.; Mundlos, S.: Breaking TADs: How Alterations of Chromatin Domains Result in Disease. Trends in Genetics 32 (4), S. 225 - 237 (2016)
  14. 14.
    Zeitschriftenartikel
    Mackenroth, L.; Fischer-Zirnsak, B.; Egerer, J.; Hecht, J.; Kallinich, T.; Stenzel, W.; Spors, B.; von Moers, A.; Mundlos, S.; Kornak, U. et al.; Gerhold, K.; Horn, D.: An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing. American Journal of Medical Genetics Part A 170A (4), S. 1080 - 1085 (2016)
  15. 15.
    Zeitschriftenartikel
    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), S. 615 - 621 (2016)
  16. 16.
    Zeitschriftenartikel
    Olech, E. M.; Zemojtel, T.; Sowinska-Seidler, A.; Mundlos, S.; Robinson, P. N.; Karczewski, M.; Jamsheer, A.: Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach. Polish Journal of Pathology 67 (1), S. 78 - 83 (2016)
  17. 17.
    Zeitschriftenartikel
    Spielmann, M.; Kakar, N.; Tayebi, N.; Leettola, C.; Nürnberg, G.; Sowada, N.; Lupiáñez, D. G.; Harabula, I.; Flöttmann, R.; Horn, D. et al.; Chan, W. L.; Wittler, L.; Yilmaz, R.; Altmüller, J.; Thiele, H.; van Bokhoven,, H.; Schwartz, C. E.; Nürnberg, P.; Bowie, J. U.; Ahmad, J.; Kubisch, C.; Mundlos, S.: Exome Sequencing and CRISPR/Cas Genome Editing Identify Mutations of ZAK as a Cause of Limb Defects in Humans and Mice. Genome Research 26 (2), S. 183 - 191 (2016)
  18. 18.
    Zeitschriftenartikel
    Egerer, J.; Emmerich, D.; Fischer-Zirnsak, B.; Chan, W. L.; Meierhofer, D.; Tuysuz, B.; Marschner, K.; Sauer, S.; Barr, F. A.; Mundlos, S. et al.; Kornak, U.: GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting. The Journal of Investigative Dermatology: an International Journal for Research in Cutaneous Biology 135 (10), S. 2368 - 2376 (2015)
  19. 19.
    Zeitschriftenartikel
    Fischer-Zirnsak, B.; Escande-Beillard, N.; Ganesh, J.; Tan, Y. X.; Bughaili, M. A.; Lin, A. E.; Sahai, I.; Bahena, P.; Reichert, S. L.; Loh, A. et al.; Wright, G. D.; Liu, J.; Rahikkala, E.; Pivnick, E. K.; Choudhri, A. F.; Krüger, U.; Zemojtel, T.; van Ravenswaaij-Arts, C.; Mostafavi, R.; Stolte-Dijkstra, I.; Symoens, S.; Pajunen, L.; Al-Gazali, L.; Meierhofer, D.; Robinson, P. N.; Mundlos, S.; Villarroel, C. E.: Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. The American Journal of Human Genetics 97 (3), S. 483 - 492 (2015)
  20. 20.
    Zeitschriftenartikel
    Flöttmann, R.; Knaus, A.; Zemojtel, T.; Robinson, P. N.; Mundlos, S.; Horn, D.; Spielmann, M.: FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies. European Journal of Medical Genetics 58 (8), S. 376 - 380 (2015)
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