Publication Overview

Journal Article (992)

1.
Journal Article
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, pp. 668 - 697 (2023)
2.
Journal Article
Binsch, C.; Barbosa, D. M.; Hansen-Dille, G.; Hubert, M.; Hodge, S. M.; Kolasa, M.; Jeruschke, K.; Weiß, J.; Springer, C.; Gorressen, S. et al.; Fischer, J. W.; Lienhard, M.; Herwig, R.; Börno, S.; Timmermann, B.; Cremer, A. L.; Backes, H.; Chadt, A.; Al-Hasani, H.: Deletion of Tbc1d4/As160 abrogates cardiac glucose uptake and increases myocardial damage after ischemia/reperfusion. Cardiovascular Diabetology 22 (1), 17 (2023)
3.
Journal Article
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)
4.
Journal Article
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), pp. 264 - 284 (2023)
5.
Journal Article
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)
6.
Journal Article
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, p. in press (2022)
7.
Journal Article
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)
8.
Journal Article
Klimm, F.; Jones, N. S.; Schaub, M. T.: Modularity Maximization for Graphons. SIAM Journal on Applied Mathematics 82 (6) (2022)
9.
Journal Article
Klimm, F.: Quantifying the 'end of history' through a Bayesian Markov-chain approach. Royal Society Open Science 9 (11), 221131 (2022)
10.
Journal Article
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)
11.
Journal Article
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)
12.
Journal Article
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)
13.
Journal Article
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)
14.
Journal Article
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)
15.
Journal Article
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)
16.
Journal Article
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)
17.
Journal Article
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)
18.
Journal Article
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, pp. 3689 - 3704 (2022)
19.
Journal Article
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)
20.
Journal Article
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)
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