Publications 2025
Ahmed, S., Cesarato, N., Li, Y., Xiong, X., Ullah, K., Khan, H., Khan, M.J., Thiele, H., Ahmad, W., Hasni, M.S., and Betz, R.C. (2025). Bi-Allelic DSG1 Splice-Site Variant Identified in a Family With Non-Syndromic Striate Palmoplantar Keratoderma. J Dermatol 52, 1709-1712. https://www.ncbi.nlm.nih.gov/pubmed/40878888.
Asif, M., Khayyat, A.I.A., Alawbathani, S., Abdullah, U., Sanner, A., Georgomanolis, T., Haasters, J., Becker, K., Budde, B., Becker, C., Thiele, H., Baig, S.M., Isidoro-García, M., Winter, D., Pogoda, H.M., Muhammad, S., Hammerschmidt, M., Kraft, F., Kurth, I., Martin, H.G., Wagner, M., Schweiger, M., Nürnberg, P., and Hussain, M.S. (2025). Loss-of-function variants of ZFTRAF1, encoding a novel autophagy regulator, cause neurodevelopmental disorder of microcephaly, hypotonia, and global developmental delay. European Journal of Human Genetics 33, 833-833. <Go to ISI>://WOS:001671157904172.
Boehm, V., Wallmeroth, D., Wulf, P.O., Popp, O., Teixeira Alves, L.G., Reinecke, L., Riedel, M., Wyler, E., Franitza, M., Becker, K., Polkovnychenko, K., Del Giudice, S., Benlasfer, N., Mertins, P., Landthaler, M., and Gehring, N.H. (2025). Rapid UPF1 depletion illuminates the temporal dynamics of the NMD-regulated human transcriptome. Mol Cell 85, 3524-3546 e3512. https://www.ncbi.nlm.nih.gov/pubmed/40934927.
Brunger, T., Ivaniuk, A., Perez-Palma, E., Montanucci, L., Cohen, S., Smith, L., Parthasarathy, S., Helbig, I., Nothnagel, M., May, P., and Lal, D. (2025). Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes. Genome Biol 26, 197. https://www.ncbi.nlm.nih.gov/pubmed/40624578.
Ceroni, E.G., Dimartino, P., Giangregorio, T., Semeraro, R., Niestroj, L.M., Selvatici, R., Magini, P., Lal, D., Magi, A., Seri, M., D'Aurizio, R., and Pippucci, T. (2025). Accurate detection of clinical Copy Number Variants in exomes with X chromosome reader-based Machine Learning. European Journal of Human Genetics 33, 992-993. <Go to ISI>://WOS:001671157905250.
Dahl, R.S., Brünger, T., Ortiz, S., Moller, R.S., and Lal, D. (2025). The GABAA-Receptor Portal: A Comprehensive Online Database and Webtool of Homologous Variants. Epilepsia 66, S332-S332. <Go to ISI>://WOS:001716886002204.
Dechow, A., Timonen, S., Ianevski, A., Jiang, Q., Wahnschaffe, L., Peng, Y., Jungherz, D., Becker, K., Neubauer, H.A., Schonefeldt, S., de Araujo, E., Gunning, P., Fleck, R., Schrader, A., Hallek, M., Pflug, N., Moriggl, R., Aittokallio, T., Mustjoki, S., Braun, T., and Herling, M. (2025). Dual STAT3/STAT5 inhibition as a novel treatment strategy in T-prolymphocytic leukemia. Leukemia 39, 1435-1448. https://www.ncbi.nlm.nih.gov/pubmed/40234614.
Frazao, V.V., Sendel, S., Caliebe, A., and Nothnagel, M. (2025). Large-Scale Genotype-Phenotype Simulations for Genomic Studies. Genetic Epidemiology 49. <Go to ISI>://WOS:001587862000111.
Hahnen, E., Hauke, J., Gelmon, K., Marme, F., Ernst, C., Martin, M., Untch, M., Bonnefoi, H., Knudsen, E., Im, S.A., DeMichele, A., Van't Veer, L., Kim, S.B., Bear, H., McCarthy, N., Rhiem, K., Turner, N., Witkiewicz, A., Rojo, F., Filipits, M., Martin, L.A., Fasching, P.A., Schem, C., Becker, K., Garcia-Saenz, J.A., Kelly, C.M., Reimer, T., Toi, M., Rugo, H.S., Denkert, C., Gnant, M., Makris, A., Liu, Y., Valota, O., Felder, B., Weber, K., Nekljudova, V., and Loibl, S. (2025). BRCA1/2 and Other Predisposition Genes in High-Risk Hormone Receptor+/Human Epidermal Growth Factor Receptor 2- Breast Cancer Treated With Endocrine Therapy With or Without Palbociclib: A Secondary PENELOPE-B Study Analysis. Jco Precis Oncol 9, e2400742. https://www.ncbi.nlm.nih.gov/pubmed/40209141.
Hahnen, E., Hauke, J., Gelmon, K., Marme, F., Ernst, C., Martin, M., Untch, M., Bonnefoi, H., Knudsen, E., Im, S.A., DeMichele, A., Van't Veer, L., Kim, S.B., Bear, H., McCarthy, N., Rhiem, K., Turner, N., Witkiewicz, A., Rojo, F., Filipits, M., Martin, L.A., Fasching, P.A., Schem, C., Becker, K., Garcia-Saenz, J.A., Kelly, C.M., Reimer, T., Toi, M., Rugo, H.S., Denkert, C., Gnant, M., Makris, A., Liu, Y., Valota, O., Felder, B., Weber, K., Nekljudova, V., and Loibl, S. (2025). Reply to: Germline and Somatic BRCA1/2 Mutations in Breast Cancer Treatment Strategies. Jco Precis Oncol 9, e2500588. https://www.ncbi.nlm.nih.gov/pubmed/40893049.
Harit, K., Yi, W., Jeron, A., Schmidt, J., Beckervordersandforth, R., Wyler, E., Manukyan, A., Deckert, M., Radbruch, H., Conrad, T., Altmuller, J., Landthaler, M., Wang, X., Nishanth, G., and Schluter, D. (2025). Astrocytic-OTUD7B ameliorates murine experimental autoimmune encephalomyelitis by stabilizing glial fibrillary acidic protein and preventing inflammation. Nature communications 16, 9279. https://www.ncbi.nlm.nih.gov/pubmed/41115891.
Hernandez, C.F., Villaman, C., Leu, C., Lal, D., Mata, I., Klein, A.D., and Perez-Palma, E. (2025). Polygenic score analysis identifies distinct genetic risk profiles in Alzheimer's disease comorbidities. Scientific reports 15, 11407. https://www.ncbi.nlm.nih.gov/pubmed/40181078.
Hernandez, C.F., Villaman, C., Tejos, C., Repetto, G.M., Leu, C., Lal, D., Mata, I.F., Klein, A.D., and Perez-Palma, E. (2025). Polygenic scores contribution to Parkinson's disease comorbidities. Brain Commun 7, fcaf325. https://www.ncbi.nlm.nih.gov/pubmed/40980402.
Ishorst, N., Holzel, S., Greve, C., Yilmaz, O., Lindenberg, T., Lambertz, J., Drichel, D., Zametica, B., Mingardo, E., Kalanithy, J.C., Channab, K., Kibris, D., Henne, S., Degenhardt, F., Siewert, A., Dixon, M., Kruse, T., Ongkosuwito, E., Girisha, K.M., Pande, S., Nowak, S., Hagelueken, G., Geyer, M., Carels, C., van Rooij, I., Ludwig, K.U., Odermatt, B., and Mangold, E. (2025). Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models. European journal of human genetics : EJHG 33, 595-606. https://www.ncbi.nlm.nih.gov/pubmed/39702590.
Jahn, L., Pfefferkorn, A.M., Gauthier, P.T., Kulow, V.A., Leiz, J., Lovric, S., Schmitz, J., Scheffner, I., Roeles, J., Greite, R., F hling, M., Sauer, I.M., Aigner, F., Altm ller, J., Conrad, T., Gwinner, W., Ishaque, N., Schmidt-Ott, K.M., Halloran, P.F., Ashraf, M.I., and Hinze, C. (2025). Epithelial Injury Cell States Affect Kidney Transplant Survival After T Cell-Mediated Rejection. Journal of the American Society of Nephrology 36. <Go to ISI>://WOS:001693041202043.
Kachanov, M., Volk, A.E., Falkenbach, F., Mollring, A., Hauke, J., Rading, K., Frommolt, P., Becker, K., Graefen, M., Schmutzler, R.K., Maurer, T., Hahnen, E., and Budaus, L. (2025). Evaluation of Different National Comprehensive Cancer Network Clinical Practice Guidelines in Prostate Cancer for Germline Genetic Testing in Localized and Locally Recurrent Prostate Cancer. Eur Urol Focus 11, 848-854. https://www.ncbi.nlm.nih.gov/pubmed/40517093.
Kachanov, M., Volk, A.E., Falkenbach, F., Mollring, A., Hauke, J., Rading, K., Frommolt, P., Becker, K., Graefen, M., Schmutzler, R.K., Maurer, T., Hahnen, E., and Budaus, L. (2025). Reply to Lingyu Guo and Tian An's Letter to the Editor re: Mykyta Kachanov, Alexander E. Volk, Fabian Falkenbach, et al. Evaluation of Different National Comprehensive Cancer Network Clinical Practice Guidelines in Prostate Cancer for Germline Genetic Testing in Localized and Locally Recurrent Prostate Cancer. Eur Urol Focus. In press. doi.org/10.1016/j.euf.2025.05.021. Eur Urol Focus. https://www.ncbi.nlm.nih.gov/pubmed/40858408.
Kalanithy, J.C., Mingardo, E., Stegmann, J.D., Dhakar, R., Dakal, T.C., Rosenfeld, J.A., Tan, W.H., Coury, S.A., Woerner, A.C., Sebastian, J., Levy, P.A., Fleming, L.R., Waffenschmidt, L., Lindenberg, T.T., Yilmaz, O., Channab, K., Babra, B.K., Christ, A., Eiberger, B., Holzel, S., Vidic, C., Haberlein, F., Ishorst, N., Rodriguez-Gatica, J.E., Pezeshkpoor, B., Kupczyk, P.A., Vanakker, O.M., Loddo, S., Novelli, A., Dentici, M.L., Becker, A., Thiele, H., Posey, J.E., Lupski, J.R., Hilger, A.C., Reutter, H.M., Merz, W.M., Dworschak, G.C., and Odermatt, B. (2025). TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies. J Med Genet 62, 126-137. https://www.ncbi.nlm.nih.gov/pubmed/39715634.
Khan, M.A., Blatterer, J., Kuster, M., Kaufmann, L., Kroisel, P.M., Vincent, J.B., Zubair, B.M., Muzammal, M., Ahmad, N., Abbas, S., Shah, W., Ali, M.Z., Hussain, M.S., Thiele, H., Nurnberg, P., Wagner, K., and Windpassinger, C. (2025). Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent CDK6 variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population. J Genet 104, 19. https://www.ncbi.nlm.nih.gov/pubmed/40801391.
Kraege, A., Chavarro-Carrero, E., Schnell, E., Heilmann-Heimbach, S., Becker, K., Kohrer, K., Huettel, B., Sargheini, N., Schiffer, P., Waldvogel, A.M., Thomma, B., and Rovenich, H. (2025). High quality genome assembly and annotation (v1) of the eukaryotic freshwater microalga Coccomyxa elongata SAG 216-3b. G3 (Bethesda) 15. https://www.ncbi.nlm.nih.gov/pubmed/39671565.
Landoulsi, Z., Lohmann, K., Vollstedt, E.J., Wedgwood-Benn, E., Niestroj, L.M., Laabs, B.H., Sendel, S., Balck, A., Borsche, M., Lal, D., Grunewald, A., Bruggemann, N., Franke, A., Hicks, A., Kasten, M., Zeuner, K.E., Lange, L.M., Lieb, W., Mollenhauer, B., Pawlack, H., Pramstaller, P.P., Caliebe, A., Konig, I.R., May, P., and Klein, C. (2025). Large-scale copy number variant analysis in genes linked to Parkinson s disease. NPJ Parkinsons Dis 11, 225. https://www.ncbi.nlm.nih.gov/pubmed/40750593.
Montanucci, L., Brunger, T., Bhattarai, N., Bosselmann, C.M., Kim, S., Allen, J.P., Zhang, J., Klockner, C., Krey, I., Fariselli, P., May, P., Lemke, J.R., Myers, S.J., Yuan, H., Traynelis, S.F., and Lal, D. (2025). Ligand distances as key predictors of pathogenicity and function in NMDA receptors. Hum Mol Genet 34, 128-139. https://www.ncbi.nlm.nih.gov/pubmed/39535073.
Mushunuri, A., Adesoji, O., Krause, R., May, P., Lerche, H., Becker, A., Grimm, D., International League Against Epilepsy Consortium on Complex, E., Nothnagel, M., and Schulz, H. (2025). Genetic risk factor identification for common epilepsies guided by integrative omics data analysis. Epilepsia. https://www.ncbi.nlm.nih.gov/pubmed/41319129.
Niestroj, L.M., Vojgani, E., Leu, C., May, P., Lal, D., Nothnagel, M., and Consortium, E. (2025). From genomic structure to risk prediction: Developing a CNV-based polygenic risk score for epilepsy. European Journal of Human Genetics 33, 1013-1013. <Go to ISI>://WOS:001671157905306.
Nkouamedjo Fankep, R.C., Soylev, A., Kobiela, A.L., Blom, J., Ernst, C., and Motameny, S. (2025). SV-MeCa: an XGBoost-based meta-caller approach for structural variant calling from short-read data. BMC Bioinformatics 26, 218. https://www.ncbi.nlm.nih.gov/pubmed/40836322.
Oztoprak, H., Gao, S., Guiglielmoni, N., Brandt, A., Zheng, Y., Errbii, M., Bednarski, V., Becker, C., Becker, K., Borgschulte, L., Burak, K.A., Dion-Cote, A.M., Leonov, V., Opherden, L., Shimano, S., and Bast, J. (2025). Chromosome-scale genome dynamics reveal signatures of independent haplotype evolution in the ancient asexual mite Platynothrus peltifer. Sci Adv 11, eadn0817. https://www.ncbi.nlm.nih.gov/pubmed/39854451.
Richters, L., Gluz, O., Weber-Lassalle, N., Christgen, M., Haverkamp, H., Kuemmel, S., Kayali, M., Kates, R.E., Grischke, E.M., Altmuller, J., Forstbauer, H., Thiele, H., Braun, M., Warm, M., Ossowski, A., Wuerstlein, R., Ernst, C., Graeser, M., Linn, S.C., Nitz, U., Hauke, J., Kreipe, H.H., Schmutzler, R.K., Hahnen, E., and Harbeck, N. (2025). Genetic Alterations, Therapy Response, and Survival Among Patients With Triple-Negative Breast Cancer: A Secondary Analysis of a Randomized Clinical Trial. Jama Netw Open 8, e2461639. https://www.ncbi.nlm.nih.gov/pubmed/40009381.
Schlosser, R.M., Krumbach, F., Corrales, E., Andrieux, G., Preisinger, C., Liss, F., Golzmann, A., Boerries, M., Becker, K., Knuchel, R., Garczyk, S., and Luscher, B. (2025). Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal-like and malignant urothelial cells. Molecular oncology 19, 3784-3805. https://www.ncbi.nlm.nih.gov/pubmed/40170512.
Trombly, G., Said, A.M., Kudin, A.P., Hallmann, K., Kakabadze, A., Peeva, V., Becker, K., Kohrer, K., Zsurka, G., and Kunz, W.S. (2025). Ligase 3 prevents oxidative strand break-induced mitochondrial DNA loss but is not essential for replicative circularization. Nucleic Acids Res 53. https://www.ncbi.nlm.nih.gov/pubmed/41099692.
Wenzel, M.C., Dasmeh, P., Plum, P.S., Giel, A.S., Hoppe, S., Franitza, M., Jonas, C., Thieme, R., Zhao, Y., Heider, D., Palles, C., Fitzgerald, R.C., Bruns, C.J., Buettner, R., Quaas, A., Gockel, I., Maj, C., Chon, S.H., Schumacher, J., and Hillmer, A.M. (2025). Single-cell analysis of Barrett's esophagus and carcinoma reveals cell types conferring risk via genetic predisposition. Cell Genom 5, 100980. https://www.ncbi.nlm.nih.gov/pubmed/40925382.
Wong, K.M., Maroofian, R., Meier, K., Diegmann, S., Tkemaladze, T., Alvi, J.R., Tasharrofi, B., Efthymiou, S., Munchau, A., Korenke, G.C., Almontashiri, N., Eyaid, W., Kashgari, A., Alotaibi, M., Gartner, J., Huppke, B., Asadollahi, M., Chikvinidze, G., Keramatipour, M., Sultan, T., Thiele, H., Nurnberg, P., Graler, M.H., Houlden, H., and Huppke, P. (2025). Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis. Mov Disord 40, 1836-1850. https://www.ncbi.nlm.nih.gov/pubmed/40590574.
Worf, K., Matosin, N., Gerstner, N., Frohlich, A.S., Koller, A.C., Degenhardt, F., Thiele, H., Rietschel, M., Udawela, M., Scarr, E., Dean, B., Theis, F.J., Mueller, N.S., and Knauer-Arloth, J. (2025). Exon-variant interplay and multi-modal evidence identify endocrine dysregulation in severe psychiatric disorders impacting excitatory neurons. Transl Psychiatry 15, 153. https://www.ncbi.nlm.nih.gov/pubmed/40253403.