Publication Overview

Journal Article (90)

  1. 1.
    Journal Article
    Kumar, R.; Corbett, M. A.; Van Bon, B. W.; Gardner, A.; Woenig, J. A.; Jolly, L. A.; Douglas, E.; Friend, K.; Tan, C.; Van Esch, H. et al.; Holvoet, M.; Raynaud, M.; Field, M.; Leffler, M.; Budny, B.; Wisniewska, M.; Badura-Stronka, M.; Latos-Bielenska, A.; Batanian, J.; Rosenfeld, J. A.; Basel-Vanagaite, L.; Jensen, C.; Bienek, M.; Froyen, G.; Ullmann, R.; Hu, H.; Love, M. I.; Haas, S. A.; Stankiewicz, P.; Cheung, S. W.; Baxendale, A.; Nicholl, J.; Thompson, E. M.; Haan, E.; Kalscheuer, V. M.; Gecz, J.: Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems. Human Molecular Genetics 24 (25), pp. 7171 - 7181 (2015)
  2. 2.
    Journal Article
    Yamamoto, H.; Collier, M.; Loerke, J.; Ismer, J.; Schmidt, A.; Hilal, T.; Sprink, T.; Yamamoto, K.; Mielke, T.; Bürger, J. et al.; Shaikh, T. R.; Dabrowski, M.; Hildebrand, P. W.; Scheerer, P.; Spahn, C. M. T.: Molecular architecture of the ribosome-bound Hepatitis C Virus internal ribosomal entry site RNA. EMBO Journal 34 (24), pp. 3042 - 3058 (2015)
  3. 3.
    Journal Article
    Wruck, W.; Kashofer, K.; Rehman, S.; Daskalaki, A.; Berg, D.; Gralka, E.; Jozefczuk, J.; Drews, K.; Pandey, V.; Regenbrecht, C. et al.; Wierling, C. K.; Turano, P.; Korf, U.; Zatloukal, K.; Lehrach, H.; Westerhoff, H. V.; Adjaye, J.: Multi-omic profiles of human non-alcoholic fatty liver disease tissue highlight heterogenic phenotypes. Scientific Data 2 (2015)
  4. 4.
    Journal Article
    O'Rawe, J. A.; Wu, Y.; Dorfel, M. J.; Rope, A. F.; Au, P. Y.; Parboosingh, J. S.; Moon, S.; Kousi, M.; Kosma, K.; Smith, C. S. et al.; Tzetis, M.; Schuette, J. L.; Hufnagel, R. B.; Prada, C. E.; Martinez, F.; Orellana, C.; Crain, J.; Caro-Llopis, A.; Oltra, S.; Monfort, S.; Jimenez-Barron, L. T.; Swensen, J.; Ellingwood, S.; Smith, R.; Fang, H.; Ospina, S.; Stegmann, S.; Den Hollander, N.; Mittelman, D.; Highnam, G.; Robison, R.; Yang, E.; Faivre, L.; Roubertie, A.; Riviere, J. B.; Monaghan, K. G.; Wang, K.; Davis, E. E.; Katsanis, N.; Kalscheuer, V. M.; Wang, E. H.; Metcalfe, K.; Kleefstra, T.; Innes, A. M.; Kitsiou-Tzeli, S.; Rosello, M.; Keegan, C. E.; Lyon, G. J.: TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. The American Journal of Human Genetics 97 (6), pp. 922 - 932 (2015)
  5. 5.
    Journal Article
    Guy, M. P.; Shaw, M.; Weiner, C. L.; Hobson, L.; Stark, Z.; Rose, K.; Kalscheuer, V. M.; Gecz, J.; Phizicky, E. M.: Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1. Human Mutation 36 (12), pp. 1176 - 1187 (2015)
  6. 6.
    Journal Article
    Ropers, H. H.; Wienker, T. F.: Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders. European Journal of Medical Genetics 58 (12), pp. 715 - 718 (2015)
  7. 7.
    Journal Article
    Zanni, G.; Kalscheuer, V. M.; Friedrich, A.; Barresi, S.; Alfieri, P.; Di Capua, M.; Haas, S. A.; Piccini, G.; Karl, T.; Klauck, S. M. et al.; Bellacchio, E.; Emma, F.; Cappa, M.; Bertini, E.; Breitenbach-Koller, L.: A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia. Human Mutation 36 (12), pp. 1155 - 1158 (2015)
  8. 8.
    Journal Article
    Kärst, S.; Arends, D.; Heise, S.; Trost, J.; Yaspo-Lehrach, M.-L.; Amstislavskiy, V.; Risch, T.; Lehrach, H.; Brockmann, G.: Erratum. BMC Genomics 16 (2015)
  9. 9.
    Journal Article
    Spier, I.; Drichel, D.; Kerick, M.; Kirfel, J.; Horpaopan, S.; Laner, A.; Holzapfel, S.; Peters, S.; Adam, R.; Zhao, B. et al.; Becker, T.; Lifton, R. P.; Perner, S.; Hoffmann, P.; Kristiansen, G.; Timmermann, B.; Nöthen, M. M.; Holinski-Feder, E.; Schweiger, M. R.; Aretz, S.: Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. Journal of Medical Genetics (2015)
  10. 10.
    Journal Article
    Ganbari, M.; Lasserre, J.; Vingron, M.: Reconstruction of gene networks using prior knowledge. BMC Systems Biology 9 (2015)
  11. 11.
    Journal Article
    Mertes, F.; Lichtner, B.; Kuhl, H.; Blattner , M.; Otte, J.; Wruck, W.; Timmermann, B.; Lehrach, H.; Adjaye, J.: Combined ultra-low input mRNA and whole-genome sequencing of human embryonic stem cells. BMC Genomics 16 (2015)
  12. 12.
    Journal Article
    Kärst, S.; Arends, D.; Heise, S.; Trost, J.; Yaspo-Lehrach, M.-L.; Amstislavskiy, V.; Risch, T.; Lehrach, H.: The direction of cross affects [corrected] obesity after puberty in male but not female offspring. BMC Genomics 16 (2015)
  13. 13.
    Journal Article
    Lehrach, H.: Virtual Clinical Trials, an Essential Step in Increasing the Effectiveness of the Drug Development Process. Public Health Genomics 18 (6) (2015)
  14. 14.
    Journal Article
    Reiter, C.; Heise, F.; Chung, H.-R.; Ehrenhofer-Murray, A. E.: A link between Sas2-mediated H4 K16 acetylation, chromatin assembly in S-phase by CAF-I and Asf1, and nucleosome assembly by Spt6 during transcription. FEMS Yeast Research 15 (7), fov073 (2015)
  15. 15.
    Journal Article
    Satzger, I.; Marks, L.; Kerick, M.; Klages, S.; Berking, C.; Herbst, R.; Völker, B.; Schacht, V.; Timmermann, B.; Gutzmer, R.: Allele frequencies of BRAFV600 mutations in primary melanomas and matched metastases and their relevance for BRAF inhibitor therapy in metastatic melanoma. Oncotarget 2015 (2015)
  16. 16.
    Journal Article
    Heidari, A.; Tongsook, C.; Najafipour, R.; Musante, L.; Vasli, N.; Garshasbi, M.; Hu, H.; Mittal, K.; McNaughton, A. J.; Sritharan, K. et al.; Hudson, M.; Stehr, H.; Talebi, S.; Moradi, M.; Darvish, H.; Arshad Rafiq, M.; Mozhdehipanah, H.; Rashidinejad, A.; Samiei, S.; Ghadami, M.; Windpassinger, C.; Gillessen-Kaesbach, G.; Tzschach, A.; Ahmed, I.; Mikhailov, A.; Stavropoulos, D. J.; Carter, M. T.; Keshavarz, S.; Ayub, M.; Najmabadi, H.; Liu, X.; Ropers, H. H.; Macheroux, P.; Vincent, J. B.: Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability. Human Molecular Genetics 24 (20), pp. 5697 - 5710 (2015)
  17. 17.
    Journal Article
    Adegbola, A.; Musante, L.; Callewaert, B.; Maciel, P.; Hu, H.; Isidor, B.; Picker-Minh, S.; Le Caignec, C.; Delle Chiaie, B.; Vanakker, O. et al.; Menten, B.; Dheedene, A.; Bockaert, N.; Roelens, F.; Decaestecker, K.; Silva, J.; Soares, G.; Lopes, F.; Najmabadi, H.; Kahrizi, K.; Cox, G. F.; Angus, S. P.; Staropoli, J. F.; Fischer, U.; Suckow, V.; Bartsch, O.; Chess, A.; Ropers, H. H.; Wienker, T. F.; Hübner, C.; Kaindl, A. M.; Kalscheuer, V. M.: Redefining the MED13L syndrome. European journal of human genetics 23 (10), pp. 1308 - 1317 (2015)
  18. 18.
    Journal Article
    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), pp. 2368 - 2376 (2015)
  19. 19.
    Journal Article
    Franic, S.; Groen-Blokhuis, M. M.; Dolan, C. V.; Kattenberg, M. V.; Pool, R.; Xiao, X.; Scheet, P. A.; Ehli, E. A.; Davies, G. E.; van der Sluis, S. et al.; Abdellaoui, A.; Hansell, N. K.; Martin, N. G.; Hudziak, J. J.; van Beijsterveldt, C. E.; Swagerman, S. C.; Hulshoff Pol, H. E.; de Geus, E. J.; Bartels, M.; Ropers, H. H.; Hottenga, J. J.; Boomsma, D. I.: Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait. European journal of human genetics 23 (10), pp. 1378 - 1383 (2015)
  20. 20.
    Journal Article
    Ramirez, F.; Lingg, T.; Toscano, S.; Lam, K. C.; Georgiev, P.; Chung, H. R.; Lajoie, B. R.; de Wit, E.; Zhan, Y.; de Laat, W. et al.; Dekker, J.; Manke, T.; Akhtar, A.: High-Affinity Sites Form an Interaction Network to Facilitate Spreading of the MSL Complex across the X Chromosome in Drosophila. Molecular Cell 60 (1), pp. 146 - 162 (2015)
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