Wissenschaftliche Publikationen

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), 5:5770 (2014)

Berglund, J.; Quilez, J.; Arndt, P. F.; Webster, M. T.: Germ line Methylation Patterns Determine the Distribution of Recombination Events in the Dog Genome. Genome biology and evolution 7 (2), S. 522 - 530 (2014)

Perner, J.; Lasserre, J.; Kinkley, S.; Vingron, M.; Chung, H.-R.: Inference of interactions between chromatin modifiers and histone modifications: from ChIP-Seq data to chromatin-signaling. Nucleic Acids Research (London) 42 (22), S. 13689 - 13695 (2014)

Love, M. I.; Huber, W.; Anders, S.: Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2. Genome Biology 15, 15:550 (2014)

Meierhofer, D.; Weidner, C.; Sauer, S.: Integrative analysis of transcriptomics, proteomics and metabolomics data of white adipose and liver tissue of high-fat diet and rosiglitazone-treated insulin-resistant mice identified pathway alterations and molecular hubs. Journal of Proteome Research 13 (12), S. 5592 - 5602 (2014)

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), S. 763 - 770 (2014)

Wilson, G. R.; Sim, J. C.; McLean, C.; Giannandrea, M.; Galea, C. A.; Riseley, J. R.; Stephenson, S. E.; Fitzpatrick, E.; Haas, S. A.; Pope, K. et al.; Hogan, K. J.; Gregg, R. G.; Bromhead, C. J.; Wargowski, D. S.; Lawrence, C. H.; James, P. A.; Churchyard, A.; Gao, Y.; Phelan, D. G.; Gillies, G.; Salce, N.; Stanford, L.; Marsh, A. P.; Mignogna, M. L.; Hayflick, S. J.; Leventer, R. J.; Delatycki, M. B.; Mellick, G. D.; Kalscheuer, V. M.; D'Adamo, P.; Bahlo, M.; Amor, D. J.; Lockhart, P. J.: Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with alpha-Synuclein Pathology. The American Journal of Human Genetics 95 (6), S. 729 - 735 (2014)

Almirantis, Y.; Arndt, P.; Li, W.; Provata, A.: Editorial: Complexity in genomes. Computational Biology and Chemistry 53, S. 1 - 4 (2014)

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), S. 3170 - 3175 (2014)

Herwig, R.: Computational modeling of drug response with applications to neuroscience. Dialogues in Clinical Neuroscience 16 (4), S. 465 - 477 (2014)

Herwig, R.: Computational modelling of drug response with applications to neuroscience. Dialogues in Clinical Neuroscience 16 (4), S. 465 - 477 (2014)

Hu, H.; Matter, M. L.; Issa-Jahns, L.; Jijiwa, M.; Kraemer, N.; Musante, L.; de la Vega, M.; Ninnemann, O.; Schindler, D.; Damatova, N. et al.; Eirich, K.; Sifringer, M.; Schrotter, S.; Eickholt, B. J.; van den Heuvel, L.; Casamina, C.; Stoltenburg-Didinger, G.; Ropers, H. H.; Wienker, T. F.; Hübner, C.; Kaindl, A. M.: Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness. Annals of Clinical and Translational Neurology 1 (12), S. 1024 - 1035 (2014)

Hu, H.; Wienker, T. F.; Musante, L.; Kalscheuer, V. M.; Kahrizi, K.; Najmabadi, H.; Ropers, H. H.: Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations. Human Mutation 35 (12), S. 1427 - 1435 (2014)

Madrigal, I.; Alvarez-Mora, M. I.; Karlberg, O.; Rodriguez-Revenga, L.; Elurbe, D. M.; Rabionet, R.; Mur, A.; Pie, J.; Ballesta, F.; Sauer, S. et al.; Syvanen, A. C.; Mila, M.: Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes. Journal of Clinical Pathology 67 (12), S. 1099 - 1103 (2014)

Minocherhomji, S.; Hansen, C.; Kim, H.-G.; Mang, Y.; Bak, M.; Guldberg, P.; Papadopoulos, N.; Eiberg, H.; Doh, G. D.; Møllgard, K. et al.; Hertz, J. M.; Nielsen, J. E.; Ropers, H.-H.; Tumer, Z.; Tommerup, N.; Kalscheuer, V. M.; Silahtaroglu, A.: Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia. Human Molecular Genetics 23 (23), S. 6163 - 6176 (2014)

Muino, J. M.; Kuruoglu, E. E.; Arndt, P. F.: Evidence of a cancer type-specific distribution for consecutive somatic mutation distances. Computational Biology and Chemistry 53, Pt A, S. 79 - 83 (2014)

Reiner, G.; Dreher, F.; Drungowski, M.; Hoeltig, D.; Bertsch, N.; Selke, M.; Willems, H.; Gerlach, G. F.; Probst, I.; Tuemmler, B. et al.; Waldmann, K.-H.; Herwig, R.: Pathway deregulation and expression QTLs in response to Actinobacillus pleuropneumoniae infection in swine. Mammalian Genome 25 (11-12), S. 600 - 617 (2014)

Scherthan, H.; Schöfisch, K.; Dell, T.; Illner, D.: Contrasting behavior of heterochromatic and euchromatic chromosome portions and pericentric genome separation in pre-bouquet spermatocytes of hybrid mice. Chromosoma: Biology of the Nucleus 123 (6), S. 609 - 624 (2014)

Weidner, C.; Fischer, C.; Sauer, S.: PHOXTRACK-a tool for interpreting comprehensive datasets of post-translational modifications of proteins. Bioinformatics 30 (23), S. 3410 - 3411 (2014)

Hoehe, M. R.; Church, G. M.; Lehrach, H.; Kroslak, T.; Palczewski, S.; Nowick, K.; Schulz, S.; Suk, E.-K.; Huebsch, T.: Multiple haplotype-resolved genomes reveal population patterns of gene and protein diplotypes. Nature Communications 5, 5:5569 (2014)