Universität zu Köln

A

Adesoji, Oluyomi Modupe ORCID: 0000-0002-8583-7170 (2023). Benchmarking of univariate pleiotropy detection methods, with an application to epilepsy phenotypes. PhD thesis, Universität zu Köln.

Abo Zed, Seif El Din, Hackl, Agnes, Bohl, Katrin ORCID: 0000-0003-3746-4047, Ebert, Lena Kathrin ORCID: 0009-0000-6583-3220, Kieckhöfer, Emilia ORCID: 0009-0004-7888-9185, Müller, Carsten, Becker, Kerstin ORCID: 0009-0009-7897-7181, Fink, Gregor ORCID: 0000-0001-7042-1706, Nüsken, Kai-Dietrich ORCID: 0000-0001-5749-7183, Nüsken, Eva ORCID: 0000-0002-0674-804X, Müller, Roman-Ulrich ORCID: 0000-0001-6910-0745, Schermer, Bernhard ORCID: 0000-0002-5194-9000 and Weber, Lutz T. ORCID: 0000-0003-4116-598X (2023). Mycophenolic acid directly protects podocytes by preserving the actin cytoskeleton and increasing cell survival. Scientific Reports, 13 (1). p. 4281. Springer Nature. ISSN 2045-2322

Asif, Maria ORCID: 0000-0003-3578-6229 (2020). Delineating genetic underpinnings and disease pathogenesis of primary microcephaly and Filippi syndrome. PhD thesis, Universität zu Köln.

Arora, Ankit (2018). Development of Web-Application for High-Throughput Sequencing Data and In Silico Dissection of LINE-1 Retrotransposons in Cellular Senescence. PhD thesis, Universität zu Köln.

B

Boehm, Volker ORCID: 0000-0001-7588-9842, Wallmeroth, Damaris ORCID: 0000-0003-3437-4070, Wulf, Paul O., Popp, Oliver, Teixeira Alves, Luiz Gustavo, Reinecke, Lucie, Riedel, Maximilian, Wyler, Emanuel, Franitza, Marek, Becker, Kerstin ORCID: 0009-0009-7897-7181, Polkovnychenko, Karina ORCID: 0009-0001-9468-3150, Del Giudice, Simone, Benlasfer, Nouhad, Mertins, Philipp, Landthaler, Markus and Gehring, Niels H. ORCID: 0000-0001-7792-1164 (2025). Rapid UPF1 depletion illuminates the temporal dynamics of the NMD-regulated human transcriptome. Molecular Cell, 85 (18). 3524-3546.e12. Elsevier. ISSN 1097-2765

Brünger, Tobias ORCID: 0000-0003-2591-432X (2023). Bioinformatic approaches to determine pathogenicity and function of clinical genetic variants across ion channels and neurodevelopmental disorder associated genes. PhD thesis, Universität zu Köln.

H

Heß, Sarah Aurora (2022). Eine Strategie zur STR-Analyse telogener Einzelhaare in der forensischen Genetik. PhD thesis, Universität zu Köln.

N

Nkouamedjo Fankep, Rudel Christian ORCID: 0000-0002-8751-8202, Söylev, Arda, Kobiela, Anna-Lena ORCID: 0009-0000-6391-1280, Blom, Jochen, Ernst, Corinna and Motameny, Susanne ORCID: 0000-0003-1186-1108 (2025). SV-MeCa: an XGBoost-based meta-caller approach for structural variant calling from short-read data. BMC Bioinformatics, 26 (1). pp. 1-15. Springer Nature. ISSN 1471-2105

R

Richters, Lisa ORCID: 0000-0002-9233-5291, Gluz, Oleg ORCID: 0000-0001-6019-7544, Weber-Lassalle, Nana ORCID: 0009-0000-7014-5721, Christgen, Matthias, Haverkamp, Heinz ORCID: 0000-0001-6895-4132, Kuemmel, Sherko, Kayali, Mohamad ORCID: 0000-0003-2092-5695, Kates, Ronald E., Grischke, Eva-Maria, Altmüller, Janine ORCID: 0000-0003-4372-1521, Forstbauer, Helmut, Thiele, Holger ORCID: 0000-0003-4495-4597, Braun, Michael, Warm, Mathias, Ossowski, Anna, Wuerstlein, Rachel, Ernst, Corinna ORCID: 0000-0001-7756-8815, Graeser, Monika, Linn, Sabine C., Nitz, Ulrike, Hauke, Jan ORCID: 0000-0001-8236-4075, Kreipe, Hans Heinrich, Schmutzler, Rita K. ORCID: 0000-0001-8160-4348, Hahnen, Eric ORCID: 0000-0002-1152-8367 and Harbeck, Nadia (2025). Genetic Alterations, Therapy Response, and Survival Among Patients With Triple-Negative Breast Cancer: A Secondary Analysis of a Randomized Clinical Trial. JAMA Network Open, 8 (2). pp. 1-15. JAMA Network Open. ISSN 2574-3805

T

Tschernoster, Nikolai ORCID: 0000-0002-6058-9342, Erger, Florian ORCID: 0000-0002-2768-1702, Kohl, Stefan, Reusch, Björn ORCID: 0000-0002-8963-6835, Wenzel, Andrea ORCID: 0009-0005-3280-0947, Walsh, Stephen, Thiele, Holger ORCID: 0000-0003-4495-4597, Becker, Christian ORCID: 0009-0002-2964-4486, Franitza, Marek, Bartram, Malte P., Kömhoff, Martin, Schumacher, Anna-Lena ORCID: 0000-0001-7739-486X, Kukat, Christian ORCID: 0000-0003-1508-0229, Borodina, Tatiana, Quedenau, Claudia, Nürnberg, Peter ORCID: 0000-0002-7228-428X, Rinschen, Markus M, Driller, Jan H., Pedersen, Bjørn P., Schlingmann, Karl P., Hüttel, Bruno ORCID: 0000-0001-7165-1714, Bockenhauer, Detlef, Beck, Bodo Bernhard ORCID: 0000-0003-0495-7670 and Altmüller, Janine ORCID: 0000-0003-4372-1521 (2023). Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions. Genome Medicine, 15 (1). p. 62. Springer Nature. ISSN 1756-994X

Tschernoster, Nikolai (2023). Genomic profiling in rare kidney disease. PhD thesis, Universität zu Köln.

V

Valdez Capuccino, Lucas (2024). Harnessing cell death vulnerabilities for the treatment of Small Cell Lung Cancer. PhD thesis, Universität zu Köln.

Z

Zheng, Ruiyuan ORCID: 0000-0002-7594-3869, Moynahan, Kyle, Georgomanolis, Theodoros ORCID: 0000-0002-4066-9257, Pavlenko, Egor ORCID: 0000-0003-0293-052X, Geissen, Simon ORCID: 0000-0002-7835-4111, Mizi, Athanasia, Grimm, Simon ORCID: 0000-0002-0786-2207, Nemade, Harshal ORCID: 0000-0002-2704-181X, Rehimi, Rizwan, Bastigkeit, Jil ORCID: 0000-0001-9148-4044, Lackmann, Jan-Wilm ORCID: 0000-0001-8182-8034, Adam, Matti ORCID: 0000-0002-6990-8135, Rada-Iglesias, Alvaro, Nuernberg, Peter ORCID: 0009-0009-8276-7910, Klinke, Anna, Poepsel, Simon ORCID: 0000-0002-8304-4062, Baldus, Stephan ORCID: 0000-0001-8259-1737, Papantonis, Argyris and Kargapolova, Yulia ORCID: 0000-0001-7541-5778 (2024). Remodeling of the endothelial cell transcriptional program via paracrine and DNA-binding activities of MPO. iScience, 27 (2). pp. 1-20. Elsevier. ISSN 2589-0042

Zhu, Mengjie ORCID: 0000-0001-7961-6542, Metzen, Fabian ORCID: 0000-0002-5248-8218, Hopkinson, Mark, Betz, Janina, Heilig, Juliane, Sodhi, Jassi, Imhof, Thomas ORCID: 0000-0002-0554-7617, Niehoff, Anja ORCID: 0000-0002-4165-0929, Birk, David E., Izu, Yayoi, Krüger, Marcus ORCID: 0000-0002-5846-6941, Pitsillides, Andrew A., Altmüller, Janine ORCID: 0000-0003-4372-1521, van Osch, Gerjo J.V.M., Straub, Volker, Schreiber, Gudrun, Paulsson, Mats ORCID: 0000-0002-6846-857X, Koch, Manuel ORCID: 0000-0002-2962-7814 and Brachvogel, Bent ORCID: 0000-0002-3923-0554 (2023). Ablation of collagen XII disturbs joint extracellular matrix organization and causes patellar subluxation. iScience, 26 (7). p. 107225. Elsevier. ISSN 25890042