Journal Article (3313)

Journal Article
Dinges, S. S.; Bosticardo, M.; Hirschfelder, A.; Pala, F.; Kopp, J.; Glaser, V.; Gru¨nhagen, J.; Sangiorgio, G.; Ehlers, L.; Durek, P. et al.; Staudacher, O.; Völler, M.; Worth, A.; Kölsch, U.; Golwala, Z. M.; Unterwalder, N.; Lankes, E.; Schunck, K.-U.; Heinrich, F.; Amini, K.; Loukogeorgakis, S.; Howley, E.; Kenney, H.; Fischer, H. S.; Weber, S. C.; Blankenstein, O.; Meisel, C.; Wendt, A.; Stachelscheid, H.; Kaindl, A.; Bu¨hrer, C.; Balázs, A.; Mashreghi, M.-F.; Polansky, J. K.; Wagner, D. L.; Davies, E. G.; Mall, M. A.; Kreins, A. Y.; Notarangelo, L. D.; von Bernuth, H.: Autosomal recessive HOXA3 deficiency causes congenital athymia and laryngeal malformation. Journal of Allergy and Clinical Immunology (2026)
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Alavi, N.; Moeinzadeh, H.; Hertzberg, J.; Melo, U. S.; Al Raei, L.; Infantino, P.; Ghareghani, M.; Savarese, M.; Mundlos, S.; Vingron, M.: dicast: a machine learning method for accurate structural variant detection from short-read sequencing data. Genome Biology 27, 292 (2026)
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Kumari, S.; Gujral, S.; Halder, A.; Panda, S.; Mathew, B.; Gupta, P.; Herwig, R.; Ahuja, G.; Sengupta, D.: RCoxNet: A Deep Learning Framework Integrating Random Walk with Restart, Mutation, and Clinical Data for Cancer Survival Prediction. Journal of Computational Biology (2026)
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Pozojevic, J.; Sczakiel, H. L.; Balachandran, S.; Kruse, N.; Mensah, M. A.; Hülsemann, W.; Händler, K.; Spielmann, M.: Long-read sequencing reveals a hidden Alu-mediated splice defect in CPLANE1, causing orofaciodigital syndrome type VI. European Journal of Human Genetics (2026)
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Huang, Y.; Wentink, M.; Fueyo, R.: Genetic Deletion of Cis-Regulatory Elements to Dissect the Function of the Non-coding Genome in human Preimplantation Models. Journal of Visualized Experiments (2026)
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Carrasco-Zanini, J.; Andrade, J.; Pietzner, M.; Kousathanas, A.; Jacobsen, J. O. B.; Lord, J.; Telugu, N.; Diecke, S.; Mülleder, M.; Bierbaum, D. et al.; Vestito, L.; Robinson, P. N.; Ralser, M.; Baralle, D.; Wareham, N. J.; Elgar, G.; Potente, M.; Brown, M. A.; Caulfield, M.; Smedley, D.; Langenberg, C.: Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing. Science Translational Medicine 18 (2026)
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Iacometti, C.; Delmas, V. A.; Cadillon, M.; Dubois, I.; Roche, D.; Zhao, Y.; Kahl, L.; Mülleder, M.; Ralser, M.; Schada von Borzyskowski, L. et al.; Döring, V.; Lindner, S. N.; Bouzon, M.: Metabolic adaptation enabling D-xylose assimilation via the entner-doudoroff pathway in glycolysis-impaired Escherichia coli strains. Metabolic Engineering 97, 102504, p. 102504 (2026)
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Landmann, K.; Bartenschlager, F.; Meierhofer, D.; Spree, A.; Pisch, C.; Zeyner, A.; Schnabel, C. L.; Mundhenk, L.: Ortholog-specific Spatial Expression of Vanins in the Respiratory Tract of Horses. Journal of Histochemistry & Cytochemistry (2026)
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Faravelli, I.; Antón-Bolaños, N.; Wei, A.; Faits, T.; Kumar, A. S.; Andreadis, S.; Kastli, R.; Crespo, M. M.; Steiger, M.; Leible, D. et al.; Zhang, E.; An, B.; Meirovitch, Y.; Silwal, S.; Yang, S. M.; Kovacsovics, A.; Adiconis, X.; Kretzmer, H.; Levin, J. Z.; Boyden, E. S.; Lichtman, J.; Regev, A.; Meissner, A.; Arlotta, P.: Human brain organoids record the passage of time over multiple years. Nature (2026)
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Raei, W. A.; Ghareghani, M.; Moeinzadeh, H.; Vingron, M.: TandemTwister: scalable genotyping and advanced visualization of tandem repeats. NAR: Genomics and Bioinformatics (2026)
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Pietzner, M.; Williamson, A.; Hunt, K. A.; Koprulu, M.; Kohleick, L.; Demircan, K.; van Heel, D. A.; Finer, S.; Carrasco Zanini, J.; van Heel, D. A. et al.; Langenberg, C.: Nanoparticle-enriched mass spectrometry proteomics in British South Asians identifies links between genetic variants, plasma protein levels and disease risk. Nature Genetics (2026)
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Terkelsen, T.; Yumiceba Corral, V.; Kim, J.; Melo, U. S.; Axelgaard, E.; Febbraro, F.; Gunnarsson, A. V.; Balachandran, S.; Dahl-Jessen, M.; Christensen, R. et al.; Peters, B. A.; Asan; Thelle, T.; Nyegaard, M.; Bak, R. O.; Denham, M.; Spielmann, M.; Jensen, U. B.: Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia. The American Journal of Human Genetics (2026)
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Uluvar, B.; Williamson, A.; Kolnes, K. J.; Jeppesen, P. B.; Kolnes, A. J.; Koprulu, M.; Zoodsma, M.; Beuchel, C.; Bambal, Y.; Reines, M. et al.; Yasmeen, S.; Maj, C.; Schumacher, J.; O’Rahilly, S.; van Heel, D. A.; Bartfeld, S.; Carrasco-Zanini, J.; Jensen, J.; Pietzner, M.; Langenberg, C.: Tissue origins of the plasma proteomic response to glucose ingestion in humans. Diabetologia (2026)
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Aksu, E. D.; Vingron, M.: Context-aware sequence-to-function model of human gene regulation. Nature Communications 17, 6200 (2026)
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Heß, A.; Matani, Y.; Seelow, D.; Kretzmer, H.: DNAviWEB: sequencing-free clinical screening of liquid biopsies. Nucleic Acids Research (2026)
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Händler, K.; Sreenivasan, V. K. A.; Pilorz, V.; Martinez-Perez, C.; Elorduy, I.; Casas, T. J.; Lehmann, M.; Olano Bringas, J.; Escobar Castañondo, L.; Bengoa-Vergniory, N. et al.; Soria, F. N.; Oster, H.; Spielmann, M.; Astiz, M.: A developmental shift in glucocorticoid receptor expression preserves glucocorticoid sensitivity in the adult suprachiasmatic nucleus. PLOS Biology 24, p. e3003870 (2026)
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Springer, C.; Sill, S.; Binsch, C.; Schoen, T.; Toska, L.; Lienhard, M.; Herwig, R.; Börno, S. T.; Timmermann, B.; Herebian, D. et al.; Ouwens, D. M.; Altenhofen, D.; Horrighs, A.; Knebel, B.; Ensenauer, R.; Pesta, D.; Roden, M.; Chadt, A.; Al‐Hasani, H.: Exercise Resistance in Obese MaleNZOMice Manifests as Local Muscle Remodelling Without Glycaemic Improvements. Diabetes, Obesity and Metabolism (2026)
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Stelzer, N.; Ort, M.; Händler, K.; Bortel, E.; Dimitriou, I. M.; Textor, M.; Duda, G. N.; Schoon, J.; Marx, U.; Kornak, U. et al.; Winter, A.; Hesse, B.; Donner, S.; Hardt, S.; Klein, O.; Reinke, S.; Spielmann, M.; Geißler, S.: A 3D Human Bone and Bone Marrow‐on‐a‐Chip Model for In Vitro Bone Remodeling and Immune Cell Maintenance. Advanced Science (2026)
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Zhu, Z.; Bernhart, S. H.; Jühling, F.; Kretzmer, H.; Hoffmann, S.: metilene3: identifying DMRs across multiple conditions with auto-classification. Nature Communications 17, 5848 (2026)
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Khaveh, N.; Berghöfer, J.; Ralph, B.; Buschow, R.; Cirksena, K.; Drögemüller, C.; Fatima, A.; Grabert, G.; Gerold, G.; Grahofer, A. et al.; Herwig, R.; Jung, K.; Kacprowski, T.; Lo, B.-W.; Shiasi Sardoabi, R.; Vingron, M.; Mundlos, S.; Metzger, J.: Integrative multi-omics analysis of growth plate regulation underlying body size in miniature pigs. Communications Biology 9, 875 (2026)
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