Professur für Bioinformatik

Fahrstraße 17
91054 Erlangen

Publications (Download BibTeX)

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Zweier, M., Begemann, A., Mcwalter, K., Cho, M.T., Abela, L., Banka, S.,... Rauch, A. (2019). Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. European journal of human genetics, 27(5), 747-759.
Söldner, C., Horn, A., & Sticht, H. (2019). A Metadynamics-Based Protocol for the Determination of GPCR-Ligand Binding Modes. International Journal of Molecular Sciences, 20(8).
Müller, T., Gierke, K., Joachimsthaler, A., Sticht, H., Izsvak, Z., Hamra, F.K.,... Regus-Leidig, H. (2019). A Multiple Piccolino-RIBEYE Interaction Supports Plate-Shaped Synaptic Ribbons in Retinal Neurons. Journal of Neuroscience, 39(14), 2606-2619.
Reuter, M.S., Jobling, R., Chaturvedi, R.R., Manshaei, R., Costain, G., Heung, T.,... Bassett, A.S. (2019). Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot. Genetics in Medicine, 21(4), 1001-1007.
Papuc, S.M., Abela, L., Steindl, K., Begemann, A., Simmons, T.L., Schmitt, B.,... Rauch, A. (2019). The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. European journal of human genetics, 27(3), 408-421.
Begemann, A., Acuna, M.A., Zweier, M., Vincent, M., Steindl, K., Bachmann-Gagescu, R.,... Rauch, A. (2019). Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes. Molecular Medicine, 25.
Harrer, A., Buecker, R., Böhm, M., Zarzecka, U., Tegtmeyer, N., Sticht, H.,... Backert, S. (2019). Campylobacter jejuni enters gut epithelial cells and impairs intestinal barrier function through cleavage of occludin by serine protease HtrA. Gut Pathogens, 11.
Platzer, K., Sticht, H., Edwards, S.L., Allen, W., Angione, K.M., Bonati, M.T.,... Jamra, R. (2019). De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies. American Journal of Human Genetics, 104(2), 203-212.
Huraskin, D., & Horn, A. (2019). Alkali ion influence on structure and stability of fibrillar amyloid-beta oligomers. Journal of Molecular Modeling, 25(2).
Hauer, N., Popp, B., Taher, L., Vogl, C., Dhandapany, P.S., Büttner, C.,... Thiel, C. (2019). Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. European journal of human genetics.
Konrad, E., Nardini, N., Caliebe, A., Nagel, I., Young, D., Horvath, G.,... Zweier, C. (2019). CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genetics in Medicine.
Iqbal, Z., Tawamie, H., Ba, W., Reis, A., Halak, B.A., Sticht, H.,... Abou Jamra, R. (2019). Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia. Genetics in Medicine.
Cantone, M., Küspert, M., Reiprich, S., Lai, X., Eberhardt, M., Göttle, P.,... Vera, J. (2019). A gene regulatory architecture that controls region-independent dynamics of oligodendrocyte differentiation. Glia.
Steingruber, M., Keller, L., Socher, E., Ferre, S., Hesse, A.-M., Coute, Y.,... Marschall, M. (2019). Cyclins B1, T1, and H differ in their molecular mode of interaction with cytomegalovirus protein kinase pUL97. Journal of Biological Chemistry, 294(15), 6188-6203.
Ilyaskin, A., Kirsch, S., Böckmann, R., Sticht, H., Korbmacher, C., Härteis, S., & Diakov, A. (2018). The degenerin region of the human bile acid-sensitive ion channel (BASIC) is involved in channel inhibition by calcium and activation by bile acids. Pflugers Archiv : European journal of physiology.
Hauer, N., Popp, B., Schoeller, E., Schuhmann, S., Heath, K.E., Hisado-Oliva, A.,... Thiel, C. (2018). Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. Genetics in Medicine, 20(6), 630-638.
Straub, J., Konrad, E., Grüner, J., Toutain, A., Bok, L.A., Cho, M.T.,... Zweier, C. (2018). Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. American Journal of Human Genetics, 102(1), 44-57.
Sandmann, A., & Sticht, H. (2018). Probing the role of intercalating protein sidechains for kink formation in DNA. PLoS ONE, 13(2).
Milbradt, J., Sonntag, E., Wagner, S., Strojan, H., Wangen, C., Rovis, T.L.,... Marschall, M. (2018). Human Cytomegalovirus Nuclear Capsids Associate with the Core Nuclear Egress Complex and the Viral Protein Kinase pUL97. Viruses-Basel, 10(1).
Weerasekera, D., Stengel, F., Sticht, H., De Mattos Guaraldi, A.L., Burkovski, A., & Azevedo Antunes de Oliveira, C. (2018). The C-terminal coiled-coil domain of Corynebacterium diphtheriae DIP0733 is crucial for interaction with epithelial cells and pathogenicity in invertebrate animal model systems. BMC Microbiology, 18, 106.

Publications in addition (Download BibTeX)

Atak, S., Langlhofer, G., Schaefer, N., Kessler, D., Meiselbach, H., Delto, C.,... Villmann, C. (2015). Disturbances of Ligand Potency and Enhanced Degradation of the Human Glycine Receptor at Affected Positions G160 and T162 Originally Identified in Patients Suffering from Hyperekplexia. Frontiers in Molecular Neuroscience, 8, 79.

Last updated on 2019-24-04 at 10:29