Scientific Publications

Inak, G.; Rybak-Wolf, A.; Lisowski, P.; Pentimalli, T. M.; Jüttner, R.; Glažar, P.; Uppal, K.; Bottani, E.; Brunetti, D.; Secker, C. et al.; Zink, A.; Meierhofer, D.; Henke , M.-T.; Dey, M.; Ciptasar, U.; Mlody, B.; Hahn, T.; Berruezo-Llacuna, M.; Karaiskos, N.; Di Virgilio, M.; Mayr, J. A.; Wortmann, S. B.; Priller , J.; Gotthardt, M.; Jones , D. P.; Mayatepek, E.; Stenzel, W.; Diecke, S.; Kühn, R.; Wanker , E. E.; Rajewsky, N.; Schuelke, M.; Prigione, A.: Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome. Nature Communications 12, 1929 (2021)

Allou, L.; Balzano, S.; Magg, A.; Quinodoz, M.; Royer-Bertrand, B.; Schöpflin, R.; Chan, W.-L.; Speck-Martins, C. E.; Rocha Carvalho, D.; Farage, L. et al.; Marques Lourenço, C.; Albuquerque, R.; Rajagopal, S.; Nampoothiri, S.; Campos-Xavier, B.; Chiesa, C.; Niel-Bütschi, F.; Wittler, L.; Timmermann, B.; Spielmann, M.; Robson, M.; Ringel, A.; Heinrich, V.; Cova, G.; Andrey , G.; Prada-Medina, C. A.; Pescini-Gobert, R.; Unger, S.; Bonafé, L.; Grote, P.; Rivolta, C.; Mundlos, S.; Superti-Furga, A.: Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature (2021)

Panconesi, R.; Mauricio , F. C.; Mueller, M.; Meierhofer, D.; Dutkowski, P.; Muiesan, P.; Schlegel, A.: Viability Assessment in Liver Transplantation—What Is the Impact of Dynamic Organ Preservation? Biomedicines 9 (2), 161 (2021)

Amaral, A.; Herrmann, B. G.: RAC1 controls progressive movement and competitiveness of mammalian spermatozoa. PLoS Genetics 17 (2), e1009308 (2021)

Kraushar, M. L.; Krupp, F.; Harnett, D.; Turko, P.; Ambrozkiewicz, M. C.; Sprink, T.; Imami, K.; Günnigmann, M.; Zinnall, U.; Vieira-Vieira, C. H. et al.; Schaub, T.; Münster-Wandowski, A.; Bürger, J.; Borisova, E.; Yamamot, H.; Rasin, M.-R.; Ohlen, U.; Beule, D.; Mielke, T.; Tarabykin, V.; Landthaler, M.; Kramer, G.; Vida, I.; Selbach, M.; Spahn, C. M. T.: Protein Synthesis in the Developing Neocortex at Near-Atomic Resolution Reveals Ebp1-Mediated Neuronal Proteostasis at the 60S Tunnel Exit. Molecular Cell 81 (2), e16, pp. 304 - 322 (2021)

de Los Santos, M. R.; Rivalan, M.; David, F. S.; Stumpf, A.; Pitsch, J.; Tsortouktzidis, D.; Moreno Velasquez, L.; Voigt, A.; Schilling, K.; Mattei, D. et al.; Long, M.; Vogt, G.; Knaus, A.; Fischer-Zirnsak, B.; Wittler, L.; Timmermann, B.; Robinson , P. N.; Horn, D.; Mundlos, S.; Kornak, U.; Becker, A. J.; Schmitz , D.; Winter, Y.; Krawitz, P. M.: A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions. Proceedings of the National Academy of Sciences of the United States of America 118 (2), e2014481118 (2021)

Melo, U. S.; Bonner, D.; Lloyd, K. C. K.; Moshiri, A.; Willis, B.; Lanoue, L.; Bower, L.; Leonard, B. C.; Martins, D. J.; Gomes, F. et al.; de Souza Leite, F.; Oliveira, D.; Kitajima, J. P.; Monteiro, F. P.; Zatz, M.; Martins Menck, C. F.; Wheeler, M. T.; Bernstein, J. A.; Dumas, K.; Spiteri, E.; Di Donato, N.; Jahn, A.; Hashem, M.; Alsaif, H. S.; Chedrawi, A.; Alkuraya, F. S.; Kok, F.; Byers, H. M.: Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. GENETICS IN MEDICINE 2021 (2021)

Kuhl, H.; Frankl-Vilches, C.; Bakker, A.; Mayr, G.; Nikolaus, G.; Boerno, S. T.; Klages, S.; Timmermann, B.; Gahr, M.: An unbiased molecular approach using 3’-UTRs resolves the avian family-level tree of life. Molecular Biology and Evolution 38 (1), pp. 108 - 127 (2021)

Farrall, A.; Lienhard, M.; Grimm, C.; Kuhl, H.; Sluka, S. H. M.; Caparros Rodriguez, M.; Forejt, J.; Timmermann, B.; Herwig, R.; Herrmann, B. G. et al.; Morkel, M.: PWD/Ph-encoded genetic variants modulate the cellular Wnt/β-Catenin response to suppress ApcMin-triggered intestinal tumor formation. Cancer research: an official organ of the American Association for Cancer Research 81 (1), pp. 38 - 49 (2021)

Said, N.; Hilal, T.; Sunday, N. D.; Khatri, A.; Bürger, J.; Mielke, T.; Belogurov, G. A.; Loll, B.; Sen, R.; Artsimovitch, I. et al.; Wahl, M. C.: Steps toward translocation-independent RNA polymerase inactivation by terminator ATPase ρ. Science 371 (6524), eabd1673 (2021)

Heller, D.; Vingron, M.: SVIM-asm: structural variant detection from haploid and diploid genome assemblies. Bioinformatics 2020, btaa1034 (2020)

Zhang, X.; Xu, Q.; Zi, Z.; Liu, Z.; Wan, C.; Crisman, L.; Shen, J.; Liu, X.: Programmable Extracellular Vesicles for Macromolecule Delivery and Genome Modifications. Developmental Cell 55, pp. 1 - 18 (2020)

Schachler, K.; Distl, O.; Metzger, J.: Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza. Scientific Reports 2020, 10: 22142 (2020)

Veenvliet, J. V.; Bolondi, A.; Kretzmer, H.; Haut, L.; Scholze-Wittler, M.; Schifferl, D.; Koch, F.; Guignard, L.; Sampath Kumar, A.; Pustet, M. et al.; Heimann, S.; Buschow, R.; Wittler, L.; Timmermann, B.; Meissner, A.; Herrmann, B. G.: Mouse embryonic stem cells self-organize into trunk-like structures with neural tube and somites. Science 370 (6522), eaba4937 (2020)

Kretzmer, H.; Biran, A.; Purroy, N.; Lemvigh, C. K.; Clement, K.; Gruber, M.; Gu, H.; Rassenti, L.; Mohammad, A. W.; Lesnick, C. et al.; Slager, S. L.; Braggio, E.; Shanafelt, T. D.; Kay, N. E.; Fernandes, S. M.; Brown, J. R.; Wang, L.; Li, S.; Livak, K. J.; Neuberg, D. S.; Klages, S.; Timmermann, B.; Kipps, T. J.; Campo, E.; Gnirke, A.; Wu, C. J.; Meissner, A.: Pre-neoplastic alterations define CLL DNA methylome and persist through disease progression and therapy. Blood Cancer Discovery 2 (1), 2:1–16 (2020)

Riege, K.; Kretzmer, H.; Sahm, A.; McDade, S. S.; Hoffmann, S.; Fischer, M.: Dissecting the DNA binding landscape and gene regulatory network of p63 and p53. eLife 9, e63266 (2020)

Klymenko , O.; Brecklinghaus, T.; Dille, M.; Springer, C.; de Wendt, C.; Altenhofen, D.; Binsch, C.; Knebel , B.; Scheller, J.; Hardt, C. et al.; Herwig, R.; Chadt, A.; Pfluger, P. T.; Al-Hasani, H.; Kabra, D. G.: Histone deacetylase 5 regulates Interleukin 6 secretion and insulin action in skeletal muscle. Molecular Metabolism 42, 101062 (2020)

Helmsauer, K.; Valieva, M.; Ali , S.; Chamorro González, R.; Schöpflin, R.; Röefzaad, C.; Bei, Y.; Dorado Garcia, H.; Rodriguez-Fos, E.; Puiggròs, M. et al.; Kasack, K.; Haase, K.; Keskeny, C.; Chen, C. Y.; Kuschel, L. P.; Euskirchen, P.; Heinrich, V.; Robson, M.; Rosswog, C.; Toedling, J.; Szymansky, A.; Hertwig, F.; Fischer, M.; Torrents, D.; Eggert, A.; Schulte, J. H.; Mundlos, S.; Henssen, A. G.; Koche, R. P.: Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma. Nature Communications 2020 (11), 11:5823 (2020)

Cao, J.; O’Day, D. R.; Pliner, H. A.; Kingsley, P. D.; Deng, M.; Daza, R. M.; Zager, M. A.; Aldinger, K. A.; Blecher-Gonen, R.; Zhang, F. et al.; Spielmann, M.; Palis, J.; Doherty, D.; Steemers, F. J.; Glass, I. A.; Trapnell, C.; Shendure, J.: A human cell atlas of fetal gene expression. Science 370 (6518), eaba7721 (2020)

Grimm, T.; Garshasbi, M.; Puettmann, L.; Chen, W.; Ullmann, R.; Müller-Myhsok, B.; Klopocki, E.; Herbst, L.; Haug, J.; Jensen, L. R. et al.; Fischer, C.; Nöthen, M.; Ludwig, K.; Warnke, A.; Ott, J.; Schulte-Körne, G.; Ropers, H.-H.; Kuss, A. W.: A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q. Zeitschrift fur Kinder- und Jugendpsychiatrie und Psychotherapie 48 (6), pp. 478 - 489 (2020)