Publications 2026
Betrancourt, A., Cinko, M.T., Varanda, A.B., Arias, M., Uranga-Murillo, I., Pena, N., Kaps, L.M., Chau, L.F., Buratti, B., Bragelmann, J., de Miguel, D., Becker, K., Casper, R., Martin, R., Alcami, A., Ferguson, B.J., Pardo, J., Rieser, E., and Walczak, H. (2026). Lysine-11 ubiquitination drives type-I/III interferon induction by cGAS-STING and Toll-like receptors 3 and 4. Nat Cell Biol 28, 608-621. https://www.ncbi.nlm.nih.gov/pubmed/41792265.
Boschann, F., Kopp, J., Romer, S., Kuchler, O., Lyubenova, H., von Kugelgen, N., Hertstein, E., Hagelstein, L., Becker, C., Becker, K., Brachs, S., Mai, K., Meierhofer, D., Seelow, D., Mundlos, S., Horn, D., Schuelke, M., and Fischer-Zirnsak, B. (2026). A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics. NPJ Genom Med 11. https://www.ncbi.nlm.nih.gov/pubmed/41932932.
Cesarato, N., Kumar, S., Wehner, M., Aldisi, R., Thiele, H., Hamm, H., and Betz, R.C. (2026). From Hypotrichosis to Frontonasal Dysplasia: Expanding the Phenotypic Spectrum of ALX4 Variants. American journal of medical genetics Part A. https://www.ncbi.nlm.nih.gov/pubmed/42499203.
Gverdtsiteli, S., Ortiz, S., Brunger, T., Furia, F., Barba, C., Bjorg-Hammer, T., Borggraefe, I., Caraballo, R., Cirak, S., Espeche, A., Fazeli, W., Guerrini, R., Juanes, M., Kassahn, K., Kinali, M., Kramer, J., Kroll, J., Herrero, M.C.M., Oegema, R., Ounap, K., Penuela, O., Platzer, K., Prasad, A.N., Pujol, A., Reinson, K., Represa, A., Roza, E., Valenzuela, G.R., Rodriguez-Palmero, A., Sallevelt, S., Sanchez-Albiusa, M.I., Scheffer, I.E., Smid, C., Stafstrom, C.E., Stattin, E.L., Suarez, J.R., Syrbe, S., Valente, K.D., Wagner, M., Wortmann, S., Gardella, E., Lal, D., Brunklaus, A., and Moller, R.S. (2026). Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies. Epilepsia 67, 3629-3643. https://www.ncbi.nlm.nih.gov/pubmed/41925334.
Heger, J.M., Mattlener, J., Kaul, H., Ferdinandus, J., Schneider, J., Schleifenbaum, J.K., Schneider, G., Schaub, V., Hanel, M., Hellmuth, J.C., Dierlamm, J., Martin, S., Mathas, S., Meissner, J., Pegtel, D.M., Zijlstra, J.M., Ossowski, A., Becker, K., Hallek, M., von Tresckow, B., Borchmann, P., and Borchmann, S. (2026). MRD-2 in the GHSG HD21 trial assessed by a validated circulating tumor DNA sequencing assay. Blood 147, 2194-2202. https://www.ncbi.nlm.nih.gov/pubmed/41662627.
Juschke, C., Linsel, K., Owczarek-Lipska, M., Brandt, N., Zunken, S., Altmuller, J., Preising, M.N., Kastrati, D., Thiele, H., Thomas, M.G., Nurnberg, P., Lorenz, B., Kellner, U., Brauer, A.U., Korenke, G.C., Gottlob, I., and Neidhardt, J. (2026). CACNB3 defects are associated with infantile idiopathic nystagmus. Brain Commun 8, fcag034. https://www.ncbi.nlm.nih.gov/pubmed/41822111.
Klapproth, H., Huerta Arana, M., Lackmann, J.W., Bopp, L., Hussain, M.S., Aloui, A., Becker, K., von Stebut, E., Klein Geltink, R.I., Tantcheva-Poor, I., and Fabri, M. (2026). Metformin in necrobiotic xanthogranuloma. Br J Dermatol 194, 378-380. www.ncbi.nlm.nih.gov/pubmed/40966608.
Kueckelmann, S., Theunissen, S., Meyer Zu Altenschildesche, F., von Ondarza, L., Lackmann, J.W., Franitza, M., Becker, K., Boehm, V., and Gehring, N.H. (2026). SMG1:SMG8:SMG9-complex integrity supports efficient execution of nonsense-mediated mRNA decay. Nucleic Acids Res 54. https://www.ncbi.nlm.nih.gov/pubmed/41830328.
Kurscheidt, K., Theunissen, S., Pasquali, N., Becker, K., Boehm, V., Conti, E., and Gehring, N.H. (2026). Composite SMG5-SMG6 PIN domain formation is essential for NMD. Nature communications 17. https://www.ncbi.nlm.nih.gov/pubmed/41714610.
Lammers-Lietz, F., Akyuez, L., Boraschi, D., Borchers, F., de Bresser, J., Chatterjee, S., Correia, M.M., de Lange, N.M., Dschietzig, T.B., Ghosh, S., Feinkohl, I., Ferreira da Silva, I., Fislage, M., Fournier, A., Gallinat, J., Hadzidiakos, D., Hadel, S., Halzl-Yurek, F., Heilmann-Heimbach, S., Heinrich, M., Hendrikse, J., Hoffmann, P., Janke, J., Kant, I.M.J., Kraft, A., Krause, R., Kruppa-Scheetz, J., Kuhn, S., Lachmann, G., Laubach, M., Lippert, C., Menon, D.K., Morgeli, R., Muller, A., Mutsaerts, H.J., Nothen, M., Nurnberg, P., Ofosu, K., Pietzsch, M., Piper, S.K., Pischon, T., Preller, J., Scheurer, K., Schneider, R., Scholtz, K., Schreier, P.H., Slooter, A.J.C., Stamatakis, E.A., von Haefen, C., van Montfort, S.J.T., van Dellen, E., Volk, H.D., Weber, S., Wiebach, J., Wiehe, A., Winterer, J.M., Wolf, A., Zacharias, N., Spies, C., Winterer, G., and BioCog, c. (2026). Prediction and risk evaluation of delirium after surgery in older patients: development and internal validation of an algorithm from the prospective BioCog cohort study. Br J Anaesth 136, 1495-1508. https://www.ncbi.nlm.nih.gov/pubmed/41850989.
Landoulsi, Z., Sreelatha, A.A.K., Kuznetsov, N., Schulte, C., Bobbili, D.R., Montanucci, L., Leu, C., Niestroj, L.M., Hassanin, E., Domenighetti, C., Sugier, P.E., Radivojkov-Blagojevic, M., Lichtner, P., Portugal, B., Edsall, C., Kruger, J., Hernandez, D.G., Blauwendraat, C., Mellick, G.D., Zimprich, A., Pirker, W., Tan, M., Rogaeva, E., Lang, A., Koks, S., Taba, P., Lesage, S., Brice, A., Corvol, J.C., Chartier-Harlin, M.C., Mutez, E., Brockmann, K., Deutschlander, A.B., Hadjigeorgiou, G.M., Dardiotis, E., Stefanis, L., Simitsi, A.M., Valente, E.M., Petrucci, S., Straniero, L., Zecchinelli, A., Pezzoli, G., Brighina, L., Ferrarese, C., Annesi, G., Quattrone, A., Gagliardi, M., Burbulla, L.F., Matsuo, H., Nakayama, A., Hattori, N., Nishioka, K., Chung, S.J., Kim, Y.J., Pavelka, L., Kolber, P., van de Warrenburg, B.P., Bloem, B.R., Singleton, A.B., Vitale, D., Toft, M., Pihlstrom, L., Guedes, L.C., Ferreira, J.J., Bardien, S., Carr, J., Tolosa, E., Ezquerra, M., Pastor, P., Wirdefeldt, K., Pedersen, N.L., Ran, C., Belin, A.C., Puschmann, A., Clarke, C.E., Morrison, K.E., Krainc, D., Farrer, M.J., Lal, D., Global Parkinson Genetics, P., Elbaz, A., Gasser, T., Kruger, R., Sharma, M., May, P., Comprehensive Unbiased Risk Factor Assessment for, G., and Environment in Parkinson's Disease, c. (2026). Genome-wide association study of copy number variations in Parkinson's disease. NPJ Parkinsons Dis 12. https://www.ncbi.nlm.nih.gov/pubmed/42009659.
Nagel, L., Wenzel, M., Hoppe, S., Karimpour, M., Plum, P.S., Hamoudi, A., Jahan, I., Schmitt, S., Franitza, M., Wahba, R., Bludau, M., Bruns, C.J., Quaas, A., Beyer, A., and Hillmer, A.M. (2026). Gene expression adaptation of metastases to their host tissue. iScience 29, 116744. https://www.ncbi.nlm.nih.gov/pubmed/42495525.
Ozieblo, D., Leja, M.L., Gan, N., Baldyga, N., Toliat, M.R., Budde, B.S., Skarzynski, H., and Oldak, M. (2026). Integrative genetic and functional analysis of autosomal dominant hearing loss in 108 multigenerational families. J Mol Med (Berl) 104. https://www.ncbi.nlm.nih.gov/pubmed/42371110.
Zandstra, D., Ralf, A., Caliebe, A., Nothnagel, M., Krawczak, M., and Kayser, M. (2026). MatchY: A software implementation of pedigree-based calculation of Y-STR match probabilities. Forensic science international Genetics 84, 103518. https://www.ncbi.nlm.nih.gov/pubmed/42070321.