Wissenschaftliche Publikationen

Palmer, E. E.; Pusch, M.; Picollo, A.; Forwood, C.; Nguyen, M. H.; Suckow, V.; Gibbons, J.; Hoff, A.; Sigfrid, L.; Megarbane, A. et al.; Nizon, M.; Cogné, B.; Beneteau, C.; Alkuraya, F. S.; Chedrawi, A.; Hashem, M. O.; Stamberger, H.; Weckhuysen, S.; Vanlander, A.; Ceulemans, B.; Rajagopalan, S.; Nunn, K.; Arpin, S.; Raynaud, M.; Motter, C. S.; Ward-Melver, C.; Janssens, K.; Meuwissen, M.; Beysen, D. ....; Kalscheuer, V. M.: Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. Molecular Psychiatry 28, S. 668 - 697 (2023)

Nabavizadeh, N.; Bressin, A.; Shboul, M.; Moreno Traspas, R.; Chia, P. H.; Bonnard, C.; Szenker-Ravi, E.; Saribas, B.; Beillard, E.; Altunoglu, U. et al.; Hojati, Z.; Drutman, S.; Freier, S.; El-Khateeb, M.; Fathallah, R.; Casanova, J.-L.; Soror, W.; Arafat, A.; Escande-Beillard, N.; Mayer, A.; Reversade, B.: A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing. Embo Molecular Medicine 2023, e16478 (2023)

Stevens , L. E.; Peluffo, G.; Qiu, X.; Temko , D.; Fassl , A.; Li , Z.; Trinh , A.; Seehawer, M.; Jovanovic, B.; Aleckovic , M. et al.; Wilde , C. M.; Geck, R. C.; Shu, S.; Kingston, N. L.; Harper, N. W.; Almendro, V.; Pyke, A. L.; Egri , S. B.; Papanastasiou, M.; Clement , K.; Zhou , N.; Walker, S.; Salas, J.; Park, S. Y.; Frank, D. A.; Meissner, A.; Jaffe , J. D.; Sicinski , P.; Toker, A.; Michor , F.; Long , H. W.; Overmoyer , B. A.; Polyak, K.: JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states. Cancer research: an official organ of the American Association for Cancer Research 83 (2), S. 264 - 284 (2023)

Altenhofen, D.; Khuong, J. M.-A.; Kuhn, T.; Lebek, S.; Görigk, S.; Kaiser, K.; Binsch, C.; Griess, K.; Knebel, B.; Belgardt, B.-F. et al.; Cames, S.; Eickelschulte, S.; Stermann, T.; Rasche, A.; Herwig, R.; Weiss, J.; Vogel, H.; Schürmann, A.; Chadt, A.; Al-Hasani, H.: E96V Mutation in the Kdelr3 Gene Is Associated with Type 2 Diabetes Susceptibility in Obese NZO Mice. International Journal of Molecular Sciences 24 (1), 845 (2023)

Gialesaki , S.; Bräuer-Hartmann , D.; Issa, H.; Bhayadia, R.; Alejo-Valle, O.; Verboon, L.; Schmell, A.-L.; Laszig, S.; Regenyi, E.; Schuschel, K. et al.; Labuhn , M.; Ng, M.; Winkler , R.; Ihling, C.; Sinz, A.; Glaß, M.; Hüttelmaier, S.; Matzk, S.; Schmid, L.; Strüwe, F.; Kadel, S.-K.; Reinhardt, D.; Yaspo, M.-L.; Heckl, D.; Klusmann, J.-H.: RUNX1 isoform disequilibrium promotes the development of trisomy 21 associated myeloid leukemia. Blood, S. in press (2022)

Meziane, H.; Birling, M.-C.; Wendling, O.; Leblanc, S.; Dubos, A.; Selloum , M.; Pavlovic, G.; Sorg, T.; Kalscheuer, V. M.; Billuart, P. et al.; Laumonnier, F.; Chelly, J.; van Bokhoven , H.; Herault, Y.: Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models. Biomedicines 10 (12), 3148 (2022)

Klimm, F.; Jones, N. S.; Schaub, M. T.: Modularity Maximization for Graphons. SIAM Journal on Applied Mathematics 82 (6) (2022)

Klimm, F.: Quantifying the 'end of history' through a Bayesian Markov-chain approach. Royal Society Open Science 9 (11), 221131 (2022)

Verheijen, M.; Sarkans, U.; Wolski, W.; Jennen, D.; Caiment, F.; Kleinjans, J.; HeCaToS Consortium; Herwig, R.; Lienhard, M.: Multi-omics HeCaToS dataset of repeated dose toxicity for cardiotoxic & hepatotoxic compounds. Scientific Data 9, 699 (2022)

Leitão, E.; Schröder, C.; Parenti, I.; Dalle, C.; Rastetter, A.; Kühnel, T.; Kuechler, A.; Kaya, S.; Gérard, B.; Schaefer, E. et al.; Nava, C.; Drouot, N.; Engel, C.; Piard, J.; Duban-Bedu1, B.; Villard, L.; Stegmann, A. P. A.; Vanhoutte, E. K.; Verdonschot, J. A. J.; Kaiser, F. J.; Mau-Them, F. T.; Scala, M.; Striano, P.; Frints, S. G. M.; Argilli, E.; Sherr, E. H.; Elder, F.; Buratti, J.; Keren, B.; Mignot, C.; Héron, D.; Mandel, J.-L.; Gecz, J.; Kalscheuer, V. M.; Horsthemke, B.; Piton, A.; Depienne, C.: Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X. Nature Communications 13 (1), 6570 (2022)

González Álvarez, L. F.; Tenorio-Castaño, J.; Poletta, F. A.; Santos-Simarro, F.; Arias, P.; Gallego, N.; Orioli, I. M.; Mundlos, S.; Castilla, E. E.; Martínez-Glez, V. et al.; Martínez-Frías, M. L.; Ruiz-Pérez, V. L.; Nevado, J.; Lapunzina, P.: A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies. American Journal of Medical Genetics Part A, 62994 (2022)

Schöpflin, R.; Melo, U. S.; Moeinzadeh, M. H.; Heller, D.; Laupert, V.; Hertzberg, J.; Holtgrewe, M.; Alavi, N.; Klever, M.-K.; Jungnitsch, J. et al.; Comak, E.; Türkmen, S.; Horn, D.; Duffourd, Y.; Faivre, L.; Callier, P.; Sanlaville, D.; Zuffardi, O.; Tenconi, R.; Kurtas, N. E.; Giglio, S.; Prager, B.; Latos-Bielenska, A.; Vogel, I.; Bugge, M.; Tommerup, N.; Spielmann, M.; Vitobello, A.; Kalscheuer, V. M.; Vingron, M.; Mundlos, S.: Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes. Nature Communications 13, 6470 (2022)

Schindler, M.; Osterwalder, M.; Harabula, I.; Wittler, L.; Tzika, A. C.; Dechmann, D.; Vingron, M.; Visel, A.; Haas, S.; Real, F. M.: Co-option of the transcription factor SALL1 in mole ovotestis formation. bioRxiv, 514220 (2022)

Witt, N.; Galante, D.; Andreotti, S.; Glil, M. A.; Fasanella, A.; Meierhofer, D.; Tomaso, H.: Identification of Universally Applicable and Species-Specific Marker Peptides for Bacillus anthracis. Life 12 (10), 1549 (2022)

Noviello, G.; Gjaltema, R. A. F.; Schulz, E. G.: CasTuner: a degron and CRISPR/Cas-based toolkit for analog tuning of endogenous gene expression. bioRxiv, 511019 (2022)

López-Anguita, N.; Gassaloglu, S. I.; Stötzel, M.; Typou, M.; Virta, I.; Hetzel, S.; Buschow, R.; Koksal, B.; Atilla, D.; Maitschke-Rajasekharan, R. et al.; Chen, R.; Mattei, A. L.; Bedzhov, I.; Meierhofer, D.; Meissner, A.; Veenvliet, J. V.; Bulut-Karslioglu, A.: Hypoxia induces a transcriptional early primitive streak signature in pluripotent cells enhancing spontaneous elongation and lineage representation in gastruloids. Development 149 (20), dev200679 (2022)

Ringel, A.; Szabo, Q.; Chiariello, A. M.; Chudzik, K.; Schöpflin, R.; Rothe, P.; Mattei, A. L.; Zehnder, T.; Harnett, D.; Laupert, V. et al.; Bianco, S.; Hetzel, S.; Glaser, J.; Phan, M. H. Q.; Schindler, M.; Ibrahim, D. M.; Paliou, C.; Esposito, A.; Prada-Medina, C. A.; Haas, S. A.; Giere, P.; Vingron, M.; Wittler, L.; Meissner, A.; Nicodemi, M.; Cavalli, G.; Bantignies, F.; Mundlos, S.; Robson, M. I.: Repression and 3D-restructuring resolves regulatory conflicts in evolutionarily rearranged genomes. Cell 185 (20), e21, S. 3689 - 3704 (2022)

Berndt, N.; Hudert, C. A.; Eckstein, J.; Loddenkemper, C.; Henning, S.; Bufler, P.; Meierhofer, D.; Sack, I.; Wiegand, S.; Wallach, I. et al.; Holzhütter, H.-G.: Alterations of Central Liver Metabolism of Pediatric Patients with Non-Alcoholic Fatty Liver Disease. International Journal of Molecular Sciences 23 (19), 11072 (2022)

Zacharias, M.; Kashofer, K.; Wurm, P.; Regitnig, P.; Schütte, M.; Neger, M.; Ehmann, S.; Marsh, L. M.; Kwapiszewska, G.; Loibner, M. et al.; Birnhuber, A.; Leitner, E.; Thüringer, A.; Winter, E.; Sauer, S.; Pollheimer, M. J.; Vagena, F. R.; Lackner, C.; Jelusic, B.; Ogilvie, L.; Durdevic, M.; Timmermann, B.; Lehrach, H.; Zatloukal, K.; Gorkiewicz, G.: Host and microbiome features of secondary infections in lethal covid-19. iScience 25 (9), 104926 (2022)

Altendorfer, E.; Mochalova, Y.; Mayer, A.: BRD4: a general regulator of transcription elongation. Transcription 13 (1-3), S. 70 - 81 (2022)