Scientific Publications

Journal Article (2903)

1.
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, CAN-22-0423 (2022)
2.
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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 2022 (2022)
3.
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)
4.
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)
5.
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)
6.
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)
7.
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)
8.
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)
9.
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)
10.
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)
11.
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)
12.
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)
13.
Journal Article
Altendorfer, E.; Mochalova, Y.; Mayer, A.: BRD4: a general regulator of transcription elongation. Transcription 13 (1-3), pp. 70 - 81 (2022)
14.
Journal Article
Kornak, U.; Saha, N.; Keren, B.; Neumann, A.; Taylor Tavares, A. L.; Piard, J.; Kopp, J.; Rodrigues Alves, J. G.; de los Santos, M. R.; El Choubassi, N. et al.; Ehmke, N.; Jäger, M.; Spielmann, M.; Pantel, J. T.; Lejeune, E.; Fauler, B.; Mielke, T.; Hecht, J.; Meierhofer, D.; Strom, T. M.; Laugel, V.; Brice, A.; Mundlos, S.; Bertoli-Avella, A.; Bauer, P.; Heyd, F.; Boute, O.; Dupont, J.; Depienne, C.; Van Maldergem, L.; Fischer-Zirnsak, B.: Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features. GENETICS IN MEDICINE 24 (9), pp. 1927 - 1940 (2022)
15.
Journal Article
Aznaourova, M.; Schmerer, N.; Janga, H.; Zhang , Z.; Pauck, K.; Bushe, J.; Volkers, S. M.; Wendisch, D.; Georg, P.; Ntini, E. et al.; Aillaud, M.; Gündisch, M.; Mack, E.; Skevaki , C.; Keller, C.; Bauer, C.; Bertrams, W.; Marsico, A.; Nist, A.; Stiewe, T.; Gruber, A. D.; Ruppert, C.; Li, Y.; Garn, H.; Sander, L. E.; Schmeck, B.; Schulte, L. N.: Single-cell RNA sequencing uncovers the nuclear decoy lincRNA PIRAT as a regulator of systemic monocyte immunity during COVID-19. Proceedings of the National Academy of Sciences of the United States of America 119 (36), e2120680119 (2022)
16.
Journal Article
Khilji, S. K.; Goerdeler , F.; Frensemeier, K.; Warschkau, D.; Lühle, J.; Fandi, Z.; Schirmeister, F.; Chen, Z. A.; Turak, O.; Mallagaray, A. et al.; Boerno, S.; Timmermann, B.; Rappsilber, J.; Seeberger, P. H.; Moscovitz, O.: Generation of glycan-specific nanobodies. Cell Chemical Biology 29 (8), pp. 1353 - 1361 (2022)
17.
Journal Article
Prasse, P.; Iversen, P.; Lienhard, M.; Thedinga, K.; Herwig, R.; Scheffer, T.: Pre-Training on In Vitro and Fine-Tuning on Patient-Derived Data Improves Deep Neural Networks for Anti-Cancer Drug-Sensitivity Prediction. Cancers / Molecular Diversity Preservation International (MDPI) 14 (16), 3950 (2022)
18.
Journal Article
Boschann, F.; Cogulu, M. Ö.; Pehlivan, D.; Balachandran, S.; Vallecillo-Garcia, P.; Grochowski, C. M.; Hansmeier, N. R.; Coban Akdemir, Z. H.; Prada-Medina, C. A.; Aykut, A. et al.; Fischer-Zirnsak, B.; Badura, S.; Durmaz, B.; Ozkinay, F.; Hägerling, R.; Posey, J. E.; Stricker, S.; Gillessen-Kaesbach, G.; Spielmann, M.; Horn, D.; Brockmann, K.; Lupski, J. R.; Kornak, U.; Schmidt, J.: Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. GENETICS IN MEDICINE, S1098-3600(22)00849-8 (2022)
19.
Journal Article
Berghöfer, J.; Khaveh, N.; Mundlos, S.; Metzger, J.: Simultaneous testing of rule- and model-based approaches for runs of homozygosity detection opens up a window into genomic footprints of selection in pigs. BMC Genomics 23, 564 (2022)
20.
Journal Article
Knisbacher, B. A.; Lin, Z.; Hahn, C. K.; Nadeu, F.; Duran-Ferrer, M.; Stevenson, K. E.; Tausch, E.; Delgado, J.; Barbera-Mourelle, A.; Taylor-Weiner, A. et al.; Bousquets-Muñoz, P.; Diaz-Navarro, A.; Dunford, A.; Anand, S.; Kretzmer, H.; Gutierrez-Abril, J.; López-Tamargo, S.; Fernandes, S. M.; Sun, C.; Sivina, M.; Rassenti, L. Z.; Schneider, C.; Li, S.; Parida, L.; Meissner, A.; Aguet , F.; Burger, J. A.; Wiestner, A.; Kipps, T. J.; Brown, J. R.; Hallek, M.; Stewart, C.; Neuberg, D. S.; Martín-Subero , J. I.; Puente, X. S.; Stilgenbauer, S.; Wu, C. J.; Campo, E.; Getz, G.: Molecular map of chronic lymphocytic leukemia and its impact on outcome. Nature Genetics (2022)
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