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2024

Kraege, Anton, Chavarro-Carrero, Edgar, Schnell, Eva, Heilmann-Heimbach, Stefanie, Becker, Kerstin, Köhrer, Karl, Huettel, Bruno, Sargheini, Nafiseh, Schiffer, Philipp, Waldvogel, Ann-Marie, Thomma, Bart P H J, Rovenich, Hanna
High quality genome assembly and annotation (v1) of the eukaryotic freshwater microalga Coccomyxa elongata SAG 216-3b
G3: Genes, Genomes, Genetics, Volume 15, Number 2, December 2024
DOI: 10.1093/g3journal/jkae294

Roychowdhury, Krishanu, Attig, Jan, Trebst, Simon, Lawler, Michael J.
Supersymmetry on the lattice: Geometry, topology, and flat bands
Physical Review Research, Volume 6, Number 4, December 2024
DOI: 10.1103/physrevresearch.6.043273

Schmidt, Axel, Casadei, Nicolas, Brand, Fabian, Demidov, German, Vojgani, Elaheh, Abolhassani, Ayda, Aldisi, Rana, Butler-Laporte, Guillaume, Alawathurage, T. Madhusankha, Augustin, Max, Bals, Robert, Bellinghausen, Carla, Berger, Marc Moritz, Bitzer, Michael, Bode, Christian, Boos, Jannik, Brenner, Thorsten, Cornely, Oliver A., Eggermann, Thomas, Erber, Johanna, Feldt, Torsten, Fuchsberger, Christian, Gagneur, Julien, Göpel, Siri, Haack, Tobias, Häberle, Helene, Hanses, Frank, Heggemann, Julia, Hehr, Ute, Hellmuth, Johannes C., Herr, Christian, Hinney, Anke, Hoffmann, Per, Illig, Thomas, Jensen, Björn-Erik Ole, Keitel, Verena, Kim-Hellmuth, Sarah, Koehler, Philipp, Kurth, Ingo, Lanz, Anna-Lisa, Latz, Eicke, Lehmann, Clara, Luedde, Tom, Maj, Carlo, Mian, Michael, Miller, Abigail, Muenchhoff, Maximilian, Pink, Isabell, Protzer, Ulrike, Rohn, Hana, Rybniker, Jan, Scaggiante, Federica, Schaffeldt, Anna, Scherer, Clemens, Schieck, Maximilian, Schmidt, Susanne V., Schommers, Philipp, Spinner, Christoph D., Vehreschild, Maria J. G. T., Velavan, Thirumalaisamy P., Volland, Sonja, Wilfling, Sibylle, Winter, Christof, Richards, J. Brent, Heimbach, André, Becker, Kerstin, Ossowski, Stephan, Schultze, Joachim L., Nürnberg, Peter, Nöthen, Markus M., Motameny, Susanne, Nothnagel, Michael, Riess, Olaf, Schulte, Eva C., Ludwig, Kerstin U.
Systematic assessment of COVID-19 host genetics using whole genome sequencing data
PLOS Pathogens, Volume 20, Number 12, Pages e1012786, December 2024
DOI: 10.1371/journal.ppat.1012786

Ishorst, Nina, Hölzel, Selina, Greve, Carola, Yilmaz, Öznur, Lindenberg, Tobias, Lambertz, Jessica, Drichel, Dmitriy, Zametica, Berina, Mingardo, Enrico, Kalanithy, Jeshurun C., Channab, Khadija, Kibris, Duygu, Henne, Sabrina, Degenhardt, Franziska, Siewert, Anna, Dixon, Michael, Kruse, Teresa, Ongkosuwito, Edwin, Girisha, Katta M., Pande, Shruti, Nowak, Stefanie, Hagelueken, Gregor, Geyer, Matthias, Carels, Carine, van Rooij, Iris A. L. M., Ludwig, Kerstin U., Odermatt, Benjamin, Mangold, Elisabeth
Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models
European Journal of Human Genetics, Volume 33, Number 5, Pages 595–606, December 2024
DOI: 10.1038/s41431-024-01775-9

Heger, Jan-Michel, Mammadova, Laman, Mattlener, Julia, Sobesky, Sophia, Cirillo, Melita, Altmüller, Janine, Kirst, Elisabeth, Reinke, Sarah, Klapper, Wolfram, Bröckelmann, Paul J., Ferdinandus, Justin, Kaul, Helen, Schneider, Gundolf, Schneider, Jessica, Schleifenbaum, Julia Katharina, Ullrich, Roland T., Freihammer, Max, Awerkiew, Sabine, Lohmann, Mia, Klein, Florian, Nürnberg, Peter, Hallek, Michael, Rossi, Davide, Mauz-Körholz, Christine, Gattenlöhner, Stefan, Bräuninger, Andreas, Borchmann, Peter, von Tresckow, Bastian, Borchmann, Sven
Circulating Tumor DNA Sequencing for Biologic Classification and Individualized Risk Stratification in Patients With Hodgkin Lymphoma
Journal of Clinical Oncology, Volume 42, Number 35, Pages 4218–4230, December 2024
DOI: 10.1200/jco.23.01867

Chen, Zhiyi, Inague, Alex, Kaushal, Kamini, Fazeli, Gholamreza, Schilling, Danny, Xavier da Silva, Thamara N., dos Santos, Ancely Ferreira, Cheytan, Tasneem, Freitas, Florencio Porto, Yildiz, Umut, Viviani, Lucas Gasparello, Lima, Rodrigo Santiago, Pinz, Mikaela Peglow, Medeiros, Isadora, Iijima, Thais Satie, Alegria, Thiago Geronimo Pires, Pereira da Silva, Railmara, Diniz, Larissa Regina, Weinzweig, Simon, Klein-Seetharaman, Judith, Trumpp, Andreas, Mañas, Adriana, Hondal, Robert, Bartenhagen, Christoph, Fischer, Matthias, Shimada, Briana K., Seale, Lucia A., Chillon, Thilo Samson, Fabiano, Marietta, Schomburg, Lutz, Schweizer, Ulrich, Netto, Luis E., Meotti, Flavia C., Dick, Tobias P., Alborzinia, Hamed, Miyamoto, Sayuri, Friedmann Angeli, José Pedro
PRDX6 contributes to selenocysteine metabolism and ferroptosis resistance
Molecular Cell, Volume 84, Number 23, Pages 4645–4659.e9, December 2024
DOI: 10.1016/j.molcel.2024.10.027

Kalanithy, Jeshurun C, Mingardo, Enrico, Stegmann, Jil D, Dhakar, Ramgopal, Dakal, Tikam Chand, Rosenfeld, Jill A, Tan, Wen-Hann, Coury, Stephanie A, Woerner, Audrey C, Sebastian, Jessica, Levy, Paul A, Fleming, Leah R, Waffenschmidt, Lea, Lindenberg, Tobias T, Yilmaz, Öznur, Channab, Khadija, Babra, Bimaljeet K, Christ, Andrea, Eiberger, Britta, Hölzel, Selina, Vidic, Clara, Häberlein, Felix, Ishorst, Nina, Rodriguez-Gatica, Juan E, Pezeshkpoor, Behnaz, Kupczyk, Patrick A, Vanakker, Olivier M, Loddo, Sara, Novelli, Antonio, Dentici, Maria L, Becker, Albert, Thiele, Holger, Posey, Jennifer E, Lupski, James R, Hilger, Alina C, Reutter, Heiko M, Merz, Waltraut M, Dworschak, Gabriel C, Odermatt, Benjamin
TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies
Journal of Medical Genetics, Volume 62, Number 2, Pages 126–137, December 2024
DOI: 10.1136/jmg-2023-109799

Gunkel, Monika, Macha, Arthur, Behrmann, Elmar
Revisiting sodium phosphotungstate and ammonium molybdate as nonradioactive negative-staining agents for single-particle analysis
Acta Crystallographica Section F Structural Biology Communications, Volume 80, Number 12, Pages 356–362, November 2024
DOI: 10.1107/s2053230x24011294

Montanucci, Ludovica, Brünger, Tobias, Bhattarai, Nisha, Boßelmann, Christian M, Kim, Sukhan, Allen, James P, Zhang, Jing, Klöckner, Chiara, Krey, Ilona, Fariselli, Piero, May, Patrick, Lemke, Johannes R, Myers, Scott J, Yuan, Hongjie, Traynelis, Stephen F, Lal, Dennis
Ligand distances as key predictors of pathogenicity and function in NMDA receptors
Human Molecular Genetics, Volume 34, Number 2, Pages 128–139, November 2024
DOI: 10.1093/hmg/ddae156

Ibruli, Olta, Rose, France, Beleggia, Filippo, Schmitt, Anna, Cartolano, Maria, Fernandez, Lucia Torres, Saggau, Julia, Bonasera, Debora, Kiljan, Martha, Gozum, Gokcen, Lichius, Luca, Cai, Jiali, Niu, Li-na, Caiaffa, Manoela Iannicelli, Herter, Jan M., Walczak, Henning, Liccardi, Gianmaria, Grüll, Holger, Büttner, Reinhard, Bosco, Graziella, George, Julie, Thomas, Roman K., Bozek, Kasia, Reinhardt, Hans Christian, Herter-Sprie, Grit S.
A novel mouse model recapitulating the MMR-defective SCLC subtype uncovers an actionable sensitivity to immune checkpoint blockade
Journal of Cancer Research and Clinical Oncology, Volume 150, Number 11, November 2024
DOI: 10.1007/s00432-024-05942-9

Galer, Peter D., Parthasarathy, Shridhar, Xian, Julie, McKee, Jillian L., Ruggiero, Sarah M., Ganesan, Shiva, Kaufman, Michael C., Cohen, Stacey R., Haag, Scott, Chen, Chen, Ojemann, William K.S., Kim, Dan, Wilmarth, Olivia, Vaidiswaran, Priya, Sederman, Casey, Ellis, Colin A., Gonzalez, Alexander K., Boßelmann, Christian M., Lal, Dennis, Sederman, Rob, Lewis-Smith, David, Litt, Brian, Helbig, Ingo
Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals
Genetics in Medicine, Volume 26, Number 11, Pages 101211, November 2024
DOI: 10.1016/j.gim.2024.101211

Schnierstein, N., Chylik, J., Shupe, M. D., Neggers, R. A. J.
Standardized Daily High‐Resolution Large‐Eddy Simulations of the Arctic Boundary Layer and Clouds During the Complete MOSAiC Drift
Journal of Advances in Modeling Earth Systems, Volume 16, Number 11, November 2024
DOI: 10.1029/2024ms004296

Thombare, Ketan, Vaid, Roshan, Pucci, Perla, Ihrmark Lundberg, Kristina, Ayyalusamy, Ritish, Baig, Mohammad Hassan, Mendez, Akram, Burgos-Panadero, Rebeca, Höppner, Stefanie, Bartenhagen, Christoph, Sjövall, Daniel, Rehan, Aqsa Ali, Dattatraya Nale, Sagar, Djos, Anna, Martinsson, Tommy, Jaako, Pekka, Dong, Jae-June, Kogner, Per, Johnsen, John Inge, Fischer, Matthias, Turner, Suzanne D, Mondal, Tanmoy
METTL3/MYCN cooperation drives neural crest differentiation and provides therapeutic vulnerability in neuroblastoma
The EMBO Journal, Volume 43, Number 24, Pages 6310–6335, November 2024
DOI: 10.1038/s44318-024-00299-8

Franke, Maurice, Stratmann, Lukas, Vishnevskiy, Yury V., Neumann, Beate, Stammler, Hans‐Georg, Mitzel, Norbert W.
Tri‐ and Hexanuclear Gold(I) Systems Based on Tribenzotriquinacene
European Journal of Inorganic Chemistry, Volume 27, Number 35, November 2024
DOI: 10.1002/ejic.202400469

Boßelmann, Christian M., Leu, Costin, Brünger, Tobias, Hoffmann, Lucas, Baldassari, Sara, Chipaux, Mathilde, Coras, Roland, Kobow, Katja, Hamer, Hajo, Delev, Daniel, Rössler, Karl, Bien, Christian G., Kalbhenn, Thilo, Pieper, Tom, Hartlieb, Till, Becker, Kerstin, Ferguson, Lisa, Busch, Robyn M., Baulac, Stéphanie, Nürnberg, Peter, Najm, Imad, Blümcke, Ingmar, Lal, Dennis
Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR
Nature Communications, Volume 15, Number 1, November 2024
DOI: 10.1038/s41467-024-54911-w

Patel, Hemangi, Kröner, Jessica, Schwan, Marina, Milow, Barbara, Rege, Ameya
Molecular Description of Mechanical Structure–Property Relationships of Nanostructured Porous Carbon
The Journal of Physical Chemistry C, Volume 128, Number 49, Pages 21245–21252, November 2024
DOI: 10.1021/acs.jpcc.4c07159

Noor Ul Ayan, Hafiza, Nitschke, Yvonne, Mughal, Abdul Razzaq, Thiele, Holger, Malik, Naveed Altaf, Hussain, Ijaz, Haider, Syed Muhammad Ijlal, Rutsch, Frank, Erdmann, Jeanette, Tariq, Muhammad, Aherrahrou, Zouhair, Ahmad, Ilyas
Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy
BMC Pediatrics, Volume 24, Number 1, November 2024
DOI: 10.1186/s12887-024-05123-0

Montanucci, Ludovica, Brünger, Tobias, Boßelmann, Christian M., Ivaniuk, Alina, Pérez‐Palma, Eduardo, Lhatoo, Samden, Leu, Costin, Lal, Dennis
Evaluating novel in silico tools for accurate pathogenicity classification in epilepsy‐associated genetic missense variants
Epilepsia, Volume 65, Number 12, Pages 3655–3663, October 2024
DOI: 10.1111/epi.18155

Foo, Jerome C., Völker, Maja P., Streit, Fabian, Frank, Josef, Zacharias, Norman, Zillich, Lea, Sirignano, Lea, Nürnberg, Peter, Wienker, Thomas F., Wagner, Michael, Nöthen, Markus M., Nothnagel, Michael, Walter, Henrik, Lenz, Bernd, Spanagel, Rainer, Kiefer, Falk, Winterer, Georg, Rietschel, Marcella, Witt, Stephanie H.
Polygenic risk scores for nicotine use and family history of smoking are associated with smoking behaviour
Drug and Alcohol Dependence, Volume 263, Pages 112415, October 2024
DOI: 10.1016/j.drugalcdep.2024.112415

Sebastian, Sean S., Lee, Hyunsong, Badarukhiya, Satish, Christoffels, Ronja K., Gebauer, Jan M., Ruschewitz, Uwe
UoC‐10: Exploring the Packings of Chiral Copper(II) Paddle‐Wheel Based Metal‐Organic Cages (MOCs)
Chemistry – A European Journal, Volume 30, Number 61, October 2024
DOI: 10.1002/chem.202402334

Sanders, Maurits W. C. B., Koeleman, Bobby P. C., Brilstra, Eva H., Jansen, Floor E., Baldassari, Sara, Chipaux, Mathilde, Sim, Nam Suk, Ko, Ara, Kang, Hoon‐Chul, Blümcke, Ingmar, Lal, Dennis, Baulac, Stéphanie, Lee, Jeong Ho, Aronica, Eleonora, Braun, Kees P. J.
Somatic variant analysis of resected brain tissue in epilepsy surgery patients
Epilepsia, Volume 65, Number 12, October 2024
DOI: 10.1111/epi.18148

Tabekoueng, Georges B., Li, Heng, Goldfuss, Bernd, Schnakenburg, Gregor, Dickschat, Jeroen S.
Skeletal Rearrangements in the Enzyme‐Catalysed Biosynthesis of Coral‐Type Diterpenes from Chitinophaga pinensis
Angewandte Chemie International Edition, Volume 63, Number 50, October 2024
DOI: 10.1002/anie.202413860

Salomon, Thomas, Silva, Weslley G. D. P., Dudek, John B., Gauss, Jürgen, Schlemmer, Stephan, van Wijngaarden, Jennifer, Thorwirth, Sven
High-Resolution Spectroscopy and Structure of Heavy Carbon Subchalcogenides: Tricarbon Selenide, C3Se
The Journal of Physical Chemistry A, Volume 128, Number 42, Pages 9218–9225, October 2024
DOI: 10.1021/acs.jpca.4c05475

Harder, Christian, Pryalukhin, Alexey, Quaas, Alexander, Eich, Marie-Lisa, Tretiakova, Maria, Klein, Sebastian, Seper, Alexander, Heidenreich, Axel, Netto, George Jabboure, Hulla, Wolfgang, Büttner, Reinhard, Bozek, Kasia, Tolkach, Yuri
Enhancing Prostate Cancer Diagnosis: Artificial intelligence-Driven Virtual Biopsy for Optimal Magnetic Resonance Imaging-Targeted Biopsy Approach and Gleason Grading Strategy
Modern Pathology, Volume 37, Number 10, Pages 100564, October 2024
DOI: 10.1016/j.modpat.2024.100564

Landoulsi, Zied, Ashok Kumar Sreelatha, Ashwin, Kuznetsov, Nicole, Schulte, Claudia, Bobbili, Dheeraj Reddy, Montanucci, Ludovica, Leu, Costin, Niestroj, Lisa-Marie, Hassanin, Emadeldin, Domenighetti, Cloé, Sugier, Pierre-Emmanuel, Radivojkov-Blagojevic, Milena, Lichtner, Peter, Portugal, Berta, Edsall, Connor, Kru□ger, Jens, Hernandez, Dena G, Blauwendraat, Cornelis, Mellick, George D, Zimprich, Alexander, Pirker, Walter, Tan, Manuela, Rogaeva, Ekaterina, Lang, Anthony, Koks, Sulev, Taba, Pille, Lesage, Suzanne, Brice, Alexis, Corvol, Jean-Christophe, Chartier-Harlin, Marie-Christine, Mutez, Eugenie, Brockmann, Kathrin, Deutschländer, Angela B, Hadjigeorgiou, Georges M, Dardiotis, Efthimos, Stefanis, Leonidas, Simitsi, Athina Maria, Valente, Enza Maria, Petrucci, Simona, Straniero, Letizia, Zecchinelli, Anna, Pezzoli, Gianni, Brighina, Laura, Ferrarese, Carlo, Annesi, Grazia, Quattrone, Andrea, Gagliardi, Monica, Burbulla, Lena F, Matsuo, Hirotaka, Nakayama, Akiyoshi, Hattori, Nobutaka, Nishioka, Kenya, Chung, Sun Ju, Kim, Yun Joong, Pavelka, Lukas, Kolber, Pierre, van de Warrenburg, Bart PC, Bloem, Bastiaan R, Singleton, Andrew B., Vitale, Dan, Toft, Mathias, Pihlstrom, Lasse, Guedes, Leonor Correia, Ferreira, Joaquim J, Bardien, Soraya, Carr, Jonathan, Tolosa, Eduardo, Ezquerra, Mario, Pastor, Pau, Wirdefeldt, Karin, Pedersen, Nancy L, Ran, Caroline, Belin, Andrea C, Puschmann, Andreas, Clarke, Carl E, Morrison, Karen E, Krainc, Dimitri, Farrer, Matt J, Lal, Dennis, Elbaz, Alexis, Gasser, Thomas, Krüger, Rejko, Sharma, Manu, May, Patrick
Genome-wide association study of copy number variations in Parkinson’s disease
, August 2024
DOI: 10.1101/2024.08.21.24311915

Xu, Houchao, Goldfuss, Bernd, Dickschat, Jeroen S.
Common Biosynthesis of Non‐Canonical C 16 Terpenes through a Fragmentation‐Recombination Mechanism
Angewandte Chemie International Edition, Volume 63, Number 37, August 2024
DOI: 10.1002/anie.202408809

Lu, Yiheng, Knezevic, Melina, Prescimone, Alessandro, Goldfuss, Bernd, Tiefenbacher, Konrad
Site-Selective C(sp3)–H Oxidation of Aliphatic Substrates Devoid of Functional Groups
, August 2024
DOI: 10.26434/chemrxiv-2024-5gv6d

Taizoumbe, Kizerbo A., Chhalodia, Anuj K., Goldfuss, Bernd, Dickschat, Jeroen S.
Experiment Meets Theory: Cope Rearrangements and Thermal E/Z Isomerisations of Terpenoid Hydrocarbons
European Journal of Organic Chemistry, Volume 27, Number 38, August 2024
DOI: 10.1002/ejoc.202400583

Vishnevskiy, Yury V., Heider, Yannic, Scheschkewitz, David
Experimental molecular structures in the gas phase at the upper size limit: The case of Si6Tip6
The Journal of Chemical Physics, Volume 161, Number 5, August 2024
DOI: 10.1063/5.0219926

Martin, Carol-Anne, Sarlós, Kata, Logan, Clare V., Thakur, Roshan Singh, Parry, David A., Bizard, Anna H., Leitch, Andrea, Cleal, Louise, Ali, Nadia Shaukat, Al-Owain, Mohammed A., Allen, William, Altmüller, Janine, Aza-Carmona, Miriam, Barakat, Bushra A.Y., Barraza-García, Jimena, Begtrup, Amber, Bogliolo, Massimo, Cho, Megan T., Cruz-Rojo, Jaime, Mundi Dhahrabi, Hassan Ali, Elcioglu, Nursel H., GOSgene, Gorman, Gráinne S., Jobling, Rebekah, Kesterton, Ian, Kishita, Yoshihito, Kohda, Masakazu, Le Quesne Stabej, Polona, Malallah, Asam Jassim, Nürnberg, Peter, Ohtake, Akira, Okazaki, Yasushi, Pujol, Roser, Ramirez, Maria José, Revah-Politi, Anya, Shimura, Masaru, Stevens, Paul, Taylor, Robert W., Turner, Lesley, Williams, Hywel, Wilson, Carolyn, Yigit, Gökhan, Zahavich, Laura, Alkuraya, Fowzan S., Surralles, Jordi, Iglesias, Alejandro, Murayama, Kei, Wollnik, Bernd, Dattani, Mehul, Heath, Karen E., Hickson, Ian D., Jackson, Andrew P.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
The American Journal of Human Genetics, Volume 111, Number 5, Pages 996, May 2024
DOI: 10.1016/j.ajhg.2024.04.008

Müller, Jason M., Moos, Katharina, Baar, Till, Maier, Kerstin C., Zumer, Kristina, Tresch, Achim
Nuclear export is a limiting factor in eukaryotic mRNA metabolism
PLOS Computational Biology, Volume 20, Number 5, Pages e1012059, May 2024
DOI: 10.1371/journal.pcbi.1012059

Veronese, Matteo, Kallabis, Sebastian, Kaczmarek, Alexander Tobias, Das, Anushka, Robers, Lennart, Schumacher, Simon, Lofrano, Alessia, Brodesser, Susanne, Müller, Stefan, Hofmann, Kay, Krüger, Marcus, Rugarli, Elena I
ERLIN1/2 scaffolds bridge TMUB1 and RNF170 and restrict cholesterol esterification to regulate the secretory pathway
Life Science Alliance, Volume 7, Number 8, Pages e202402620, May 2024
DOI: 10.26508/lsa.202402620

Schouten, Philip C., Schmidt, Sandra, Becker, Kerstin, Thiele, Holger, Nürnberg, Peter, Richters, Lisa, Ernst, Corinna, Treilleux, Isabelle, Medioni, Jacques, Heitz, Florian, Pisano, Carmela, Garcia, Yolanda, Petru, Edgar, Hietanen, Sakari, Colombo, Nicoletta, Vergote, Ignace, Nagao, Shoji, Linn, Sabine C., Pujade-Lauraine, Eric, Ray-Coquard, Isabelle, Harter, Philipp, Hahnen, Eric, Schmutzler, Rita K.
Olaparib Addition to Maintenance Bevacizumab Therapy in Ovarian Carcinoma With BRCA-Like Genomic Aberrations
JAMA Network Open, Volume 7, Number 4, Pages e245552, April 2024
DOI: 10.1001/jamanetworkopen.2024.5552

Gu, Binbin, Goldfuss, Bernd, Dickschat, Jeroen S.
Two Sesterterpene Synthases from Lentzea atacamensis Demonstrate the Role of Conformational Variability in Terpene Biosynthesis
Angewandte Chemie International Edition, Volume 63, Number 19, March 2024
DOI: 10.1002/anie.202401539

George, Julie, Maas, Lukas, Abedpour, Nima, Cartolano, Maria, Kaiser, Laura, Fischer, Rieke N., Scheel, Andreas H., Weber, Jan-Philipp, Hellmich, Martin, Bosco, Graziella, Volz, Caroline, Mueller, Christian, Dahmen, Ilona, John, Felix, Alves, Cleidson Padua, Werr, Lisa, Panse, Jens Peter, Kirschner, Martin, Engel-Riedel, Walburga, Jürgens, Jessica, Stoelben, Erich, Brockmann, Michael, Grau, Stefan, Sebastian, Martin, Stratmann, Jan A., Kern, Jens, Hummel, Horst-Dieter, Hegedüs, Balazs, Schuler, Martin, Plönes, Till, Aigner, Clemens, Elter, Thomas, Toepelt, Karin, Ko, Yon-Dschun, Kurz, Sylke, Grohé, Christian, Serke, Monika, Höpker, Katja, Hagmeyer, Lars, Doerr, Fabian, Hekmath, Khosro, Strapatsas, Judith, Kambartel, Karl-Otto, Chakupurakal, Geothy, Busch, Annette, Bauernfeind, Franz-Georg, Griesinger, Frank, Luers, Anne, Dirks, Wiebke, Wiewrodt, Rainer, Luecke, Andrea, Rodermann, Ernst, Diel, Andreas, Hagen, Volker, Severin, Kai, Ullrich, Roland T., Reinhardt, Hans Christian, Quaas, Alexander, Bogus, Magdalena, Courts, Cornelius, Nürnberg, Peter, Becker, Kerstin, Achter, Viktor, Büttner, Reinhard, Wolf, Jürgen, Peifer, Martin, Thomas, Roman K.
Evolutionary trajectories of small cell lung cancer under therapy
Nature, Volume 627, Number 8005, Pages 880–889, March 2024
DOI: 10.1038/s41586-024-07177-7

Tölke, Katharina, Porath, Sven, Vishnevskiy, Yury V., Neumann, Beate, Stammler, Hans‐Georg, Mitzel, Norbert W., Hoge, Berthold
Water Adducts of the Lewis Superacids: Tris(pentafluoroethyl)gallane and ‐indane
European Journal of Inorganic Chemistry, Volume 27, Number 12, February 2024
DOI: 10.1002/ejic.202300759

Jamil, Muhammad Ahmer, Al-Rifai, Rawya, Nuesgen, Nicole, Altmüller, Janine, Oldenburg, Johannes, El-Maarri, Osman
The role of microRNAs in defining LSECs cellular identity and in regulating F8 gene expression
Frontiers in Genetics, Volume 15, February 2024
DOI: 10.3389/fgene.2024.1302685

Koko, Mahmoud, Elseed, Maha A., Mohammed, Inaam N., Hamed, Ahlam A., Abd Allah, Amal S. I., Yahia, Ashraf, Siddig, Rayan A., Altmüller, Janine, Toliat, Mohammad Reza, Elmahdi, Esra O., Amin, Mutaz, Ahmed, Elhami A., Eltazi, Isra Z. M., Elmugadam, Fatima A., Abdelgadir, Wasma A., Eltaraifee, Esraa, Ibrahim, Mohamed O. M., Ali, Nabila M. H., Malik, Hiba M., Babai, Arwa M., Bakhit, Yousuf H., Nürnberg, Peter, Ibrahim, Muntaser E., Salih, Mustafa A., Schubert, Julian, Elsayed, Liena E. O., Lerche, Holger
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy
European Journal of Human Genetics, Volume 32, Number 10, Pages 1338–1342, February 2024
DOI: 10.1038/s41431-024-01541-x

Merschel, Arne, Vishnevskiy, Yury V., Neumann, Beate, Stammler, Hans‐Georg, Ghadwal, Rajendra S.
Boosting the π‐Acceptor Property of Mesoionic Carbenes by Carbonylation with Carbon Monoxide
Angewandte Chemie International Edition, Volume 63, Number 13, February 2024
DOI: 10.1002/anie.202318525

Zheng, Ruiyuan, Moynahan, Kyle, Georgomanolis, Theodoros, Pavlenko, Egor, Geissen, Simon, Mizi, Athanasia, Grimm, Simon, Nemade, Harshal, Rehimi, Rizwan, Bastigkeit, Jil, Lackmann, Jan-Wilm, Adam, Matti, Rada-Iglesias, Alvaro, Nuernberg, Peter, Klinke, Anna, Poepsel, Simon, Baldus, Stephan, Papantonis, Argyris, Kargapolova, Yulia
Remodeling of the endothelial cell transcriptional program via paracrine and DNA-binding activities of MPO
iScience, Volume 27, Number 2, Pages 108898, February 2024
DOI: 10.1016/j.isci.2024.108898

Alidousty, Christina, Becker, Arvid, Binot, Elke, Hillmer, Axel M., Merkelbach-Bruse, Sabine, Budde, Birgit, Bäßmann, Ingelore, Rappl, Gunter, Wolf, Jürgen, Eich, Marie-Lisa, Noh, Ka-Won, Buettner, Reinhard, Schultheis, Anne Maria
Frequency and functional characterization of fusion genes in squamous cell carcinoma of the lung
Gene, Volume 895, Pages 148018, February 2024
DOI: 10.1016/j.gene.2023.148018

Merschel, Arne, Vishnevskiy, Yury V., Neumann, Beate, Stammler, Hans‐Georg, Ghadwal, Rajendra S.
Access to a peri‐Annulated Aluminium Compound via C−H Bond Activation by a Cyclic Bis‐Aluminylene
Chemistry – A European Journal, Volume 30, Number 22, February 2024
DOI: 10.1002/chem.202400293

Gallagher, Declan, Pérez‐Palma, Eduardo, Bruenger, Tobias, Ghanty, Ismael, Brilstra, Eva, Ceulemans, Berten, Chemaly, Nicole, de Lange, Iris, Depienne, Christel, Guerrini, Renzo, Mei, Davide, Møller, Rikke S., Nabbout, Rima, Regan, Brigid M., Schneider, Amy L., Scheffer, Ingrid E., Schoonjans, An‐Sofie, Symonds, Joseph D., Weckhuysen, Sarah, Zuberi, Sameer M., Lal, Dennis, Brunklaus, Andreas
Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies
Epilepsia, Volume 65, Number 4, Pages 1046–1059, February 2024
DOI: 10.1111/epi.17882

Heger, Jan-Michel, Mattlener, Julia, Schneider, Jessica, Gödel, Philipp, Sieg, Noëlle, Ullrich, Fabian, Lewis, Richard, Bucaciuc-Mracica, Teodora, Schwarz, Roland F., Rueß, Daniel, Ruge, Maximilian I., Montesinos-Rongen, Manuel, Deckert, Martina, Blau, Tobias, Kutsch, Nadine, Balke-Want, Hyatt, Weiss, Jonathan, Becker, Kerstin, Reinhardt, H. Christian, Hallek, Michael, Borchmann, Peter, von Tresckow, Bastian, Borchmann, Sven
Entirely noninvasive outcome prediction in central nervous system lymphomas using circulating tumor DNA
Blood, Volume 143, Number 6, Pages 522–534, February 2024
DOI: 10.1182/blood.2023022020

Heger, Jan‐Michel, d’Hargues, Yannick, Kleinert, Fanni, Mattlener, Julia, Weiss, Jonathan, Franzen, Fabian, Becker, Christian, Becker, Kerstin, Gödel, Philipp, Schmiel, Marcel, Meinel, Jörn, Flümann, Ruth, Simon, Florian, Reinhardt, H. Christian, Borchmann, Peter, Borchmann, Sven, Balke‐Want, Hyatt, Knittel, Gero, von Tresckow, Bastian
Noninvasive minimal residual disease assessment in relapsed/refractory large B‐cell lymphoma using digital droplet PCR
European Journal of Haematology, Volume 112, Number 6, Pages 957–963, February 2024
DOI: 10.1111/ejh.14191

Errbii, Mohammed, Gadau, Jürgen, Becker, Kerstin, Schrader, Lukas, Oettler, Jan
Causes and consequences of a complex recombinational landscape in the antCardiocondyla obscurior
Genome Research, Volume 34, Number 6, Pages 863–876
DOI: 10.1101/gr.278392.123

Montanucci, Ludovica, Brünger, Tobias, Lal, Dennis
Reply: Follow the allosteric transitions to predict variant pathogenicity: a channel-specific approach
Brain, Volume 147, Number 5, Pages e41–e42, January 2024
DOI: 10.1093/brain/awae009

Asif, Maria, Khayyat, Arwa Ishaq A., Alawbathani, Salem, Abdullah, Uzma, Sanner, Anne, Georgomanolis, Theodoros, Haasters, Judith, Becker, Kerstin, Budde, Birgit, Becker, Christian, Thiele, Holger, Baig, Shahid M., Isidoro-García, María, Winter, Dominic, Pogoda, Hans-Martin, Muhammad, Sajjad, Hammerschmidt, Matthias, Kraft, Florian, Kurth, Ingo, Martin, Hilario Gomez, Wagner, Matias, Nürnberg, Peter, Hussain, Muhammad Sajid
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia
Genetics in Medicine, Volume 26, Number 7, Pages 101143
DOI: 10.1016/j.gim.2024.101143

Hofmann, Sylvia, Rödder, Dennis, Andermann, Tobias, Matschiner, Michael, Riedel, Jendrian, Baniya, Chitra B., Flecks, Morris, Yang, Jianhuan, Jiang, Ke, Jianping, Jiang, Litvinchuk, Spartak N., Martin, Sebastian, Masroor, Rafaqat, Nothnagel, Michael, Vershinin, Vladimir, Zheng, Yuchi, Jablonski, Daniel, Schmidt, Joachim, Podsiadlowski, Lars
Exploring Paleogene Tibet’s warm temperate environments through target enrichment and phylogenetic niche modelling of Himalayan spiny frogs (Paini, Dicroglossidae)
Molecular Ecology, Volume 33, Number 15
DOI: 10.1111/mec.17446

Jürgensen, Anna-Maria, Schmitt, Felix Johannes, Nawrot, Martin Paul
Minimal circuit motifs for second-order conditioning in the insect mushroom body
Frontiers in Physiology, Volume 14, January 2024
DOI: 10.3389/fphys.2023.1326307

Whitchurch, Jonathan B., Schneider, Sophia, Hilger, Alina C., Köllges, Ricarda, Stegmann, Jil D., Waffenschmidt, Lea, Dyer, Laura, Thiele, Holger, Dhabhai, Bhanupriya, Dakal, Tikam Chand, Müller, Andreas, Norris, Dominic P., Reutter, Heiko M.
PKD1L1 Is Involved in Congenital Chylothorax
Cells, Volume 13, Number 2, Pages 149, January 2024
DOI: 10.3390/cells13020149

Xu, Houchao, Li, Heng, Goldfuss, Bernd, Schnakenburg, Gregor, Dickschat, Jeroen S.
Biosynthesis of the Non‐Canonical C17 Sesquiterpenoids Chlororaphen A and B from Pseudomonas Chlororaphis
Angewandte Chemie International Edition
DOI: 10.1002/anie.202412040

Villegas, Laura I., Ferretti, Luca, Wiehe, Thomas, Waldvogel, Ann‐Marie, Schiffer, Philipp H.
Parthenogenomics: Insights on mutation rates and nucleotide diversity in parthenogenetic Panagrolaimus nematodes
Ecology and Evolution, Volume 14, Number 1, January 2024
DOI: 10.1002/ece3.10831

Pablo, Juan Lorenzo B., Cornett, Savannah L., Wang, Lei A., Jo, Sooyeon, Brünger, Tobias, Budnik, Nikita, Hegde, Mudra, DeKeyser, Jean-Marc, Thompson, Christopher H., Doench, John G., Lal, Dennis, George, Alfred L., Pan, Jen Q.
Scanning mutagenesis of the voltage-gated sodium channel NaV1.2 using base editing
Cell Reports, Volume 43, Number 6, Pages 114327
DOI: 10.1016/j.celrep.2024.114327

Hanssen, Friederike, Gabernet, Gisela, Bäuerle, Famke, Stöcker, Bianca, Wiegand, Felix, Smith, Nicholas H., Mertes, Christian, Neogi, Avirup Guha, Brandhoff, Leon, Ossowski, Anna, Altmueller, Janine, Becker, Kerstin, Petzold, Andreas, Sturm, Marc, Stöcker, Tyll, Sivalingam, Sugirthan, Brand, Fabian, Schmidt, Axel, Buness, Andreas, Probst, Alexander J., Motameny, Susanne, Köster, Johannes
NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant calling
F1000Research, Volume 12, Pages 1125
DOI: 10.12688/f1000research.140344.2

Heinrichs, Peter, Vishnevskiy, Yury V., Neumann, Beate, Stammler, Hans‐Georg, Mitzel, Norbert W.
Syntheses and Conformations of a Trinuclear Gold(I) System Based on a Triethinyl‐trisilacyclohexane Scaffold
European Journal of Inorganic Chemistry, Volume 27, Number 20
DOI: 10.1002/ejic.202400151

Aslam, Komal, Saeed, Aysha, Jamil, Iffat, Saeed, Hafiza Iqra, Khan, Ramisha, Hassan, Samina, Rafiq, Shereen, Asif, Maria, Makhdoom, Ehtisham Ul Haq, Bashir, Rasheeda, Hussain, Muhammad Sajid, Baig, Shahid Mahmood, Anjum, Iram
Investigating the effects of a single ASPM variant (c.8508_8509) on brain architecture among siblings in a consanguineous Pakistani family
Molecular Biology Reports, Volume 51, Number 1, January 2024
DOI: 10.1007/s11033-023-09161-2

Mohren, Lars, Erdlenbruch, Friedrich, Leitão, Elsa, Kilpert, Fabian, Hönes, G. Sebastian, Kaya, Sabine, Schröder, Christopher, Thieme, Andreas, Sturm, Marc, Park, Joohyun, Schlüter, Agatha, Ruiz, Montserrat, Morales de la Prida, Moisés, Casasnovas, Carlos, Becker, Kerstin, Roggenbuck, Ulla, Pechlivanis, Sonali, Kaiser, Frank J., Synofzik, Matthis, Wirth, Thomas, Anheim, Mathieu, Haack, Tobias B., Lockhart, Paul J., Jöckel, Karl-Heinz, Pujol, Aurora, Klebe, Stephan, Timmann, Dagmar, Depienne, Christel
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions
Nature Communications, Volume 15, Number 1
DOI: 10.1038/s41467-024-52148-1

Boßelmann, Christian M, Ivaniuk, Alina, St John, Mark, Taylor, Sara C, Krishnaswamy, Gokul, Milinovich, Alex, Leu, Costin, Gupta, Ajay, Pestana-Knight, Elia M, Najm, Imad, Lal, Dennis
Healthcare utilization and clinical characteristics of genetic epilepsy in electronic health records
Brain Communications, Volume 6, Number 2
DOI: 10.1093/braincomms/fcae090

Riesmeijer, Sophie A., Kamali, Zoha, Ng, Michael, Drichel, Dmitriy, Piersma, Bram, Becker, Kerstin, Layton, Thomas B., Nanchahal, Jagdeep, Nothnagel, Michael, Vaez, Ahmad, Hennies, Hans Christian, Werker, Paul M. N., Furniss, Dominic, Nolte, Ilja M.
A genome-wide association meta-analysis implicates Hedgehog and Notch signaling in Dupuytren’s disease
Nature Communications, Volume 15, Number 1, January 2024
DOI: 10.1038/s41467-023-44451-0

Busley, Alexandra Viktoria, Gutiérrez-Gutiérrez, Óscar, Hammer, Elke, Koitka, Fabian, Mirzaiebadizi, Amin, Steinegger, Martin, Pape, Constantin, Böhmer, Linda, Schroeder, Henning, Kleinsorge, Mandy, Engler, Melanie, Cirstea, Ion Cristian, Gremer, Lothar, Willbold, Dieter, Altmüller, Janine, Marbach, Felix, Hasenfuss, Gerd, Zimmermann, Wolfram-Hubertus, Ahmadian, Mohammad Reza, Wollnik, Bernd, Cyganek, Lukas
Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome
Cell Reports, Volume 43, Number 7, Pages 114448
DOI: 10.1016/j.celrep.2024.114448

Krieft, Jonas, Trapp, Pia C., Vishnevskiy, Yury V., Neumann, Beate, Stammler, Hans-Georg, Lamm, Jan-Hendrik, Mitzel, Norbert W.
A geminal antimony( iii)/phosphorus( iii) frustrated Lewis pair
Chemical Science, Volume 15, Number 30, Pages 12118–12125
DOI: 10.1039/d4sc02785j

Aslam, Komal, Saeed, Aysha, Saeed, Hafiza Iqra, Bashir, Rasheeda, Abid, Hanna, Akhtar, Roeha, Habib, Nida, Khan, Ramisha, Asif, Roha, Rafiq, Shereen, Asif, Maria, Makhdoom, Ehtisham Ul Haq, Hussain, Muhammad Sajid, Baig, Shahid Mahmood, Anjum, Iram
Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly
Molecular Biology Reports, Volume 51, Number 1
DOI: 10.1007/s11033-024-09728-7

Taizoumbe, Kizerbo A., Goldfuss, Bernd, Dickschat, Jeroen S.
The Diterpenoid Substrate Analogue 19‐nor‐GGPP Reveals Pronounced Methyl Group Effects in Diterpene Cyclisations
Angewandte Chemie International Edition, Volume 63, Number 6, January 2024
DOI: 10.1002/anie.202318375

Raut, P., Baldini, G., Schöneck, M., Caldeira, L.
Using a generative adversarial network to generate synthetic MRI images for multi-class automatic segmentation of brain tumors
Frontiers in Radiology, Volume 3, January 2024
DOI: 10.3389/fradi.2023.1336902

Pacholewska, Alicja, Lienhard, Matthias, Brüggemann, Mirko, Hänel, Heike, Bilalli, Lorina, Königs, Anja, Heß, Felix, Becker, Kerstin, Köhrer, Karl, Kaiser, Jesko, Gohlke, Holger, Gattermann, Norbert, Hallek, Michael, Herling, Carmen D., König, Julian, Grimm, Christina, Herwig, Ralf, Zarnack, Kathi, Schweiger, Michal R.
Long-read transcriptome sequencing of CLL and MDS patients uncovers molecular effects of SF3B1 mutations
Genome Research, Volume 34, Number 11, Pages 1832–1848
DOI: 10.1101/gr.279327.124

Bysewski, Oliver, Klosterhalfen, Niklas, Jordan, Rose, Kletsch, Lukas, Winter, Andreas, Klein, Axel, Dietzek‐Ivanšić, Benjamin, Schubert, Ulrich S.
Luminescent Platinum(II) Complexes with a Tridentate Caffeine‐Based NHC‐Pincer Ligand: Synthesis, Electrochemistry and Photophysics
European Journal of Inorganic Chemistry, Volume 27, Number 5, January 2024
DOI: 10.1002/ejic.202300620

Li, Heng, Goldfuss, Bernd, Dickschat, Jeroen S.
Mechanistic characterisation of the diterpene synthase for clitopilene and identification of isopentalenene synthase from the fungus Clitopilus passeckerianus
Chemical Communications, Volume 60, Number 55, Pages 7041–7044
DOI: 10.1039/d4cc02286f

Plum, Patrick S., Hess, Timo, Bertrand, Denis, Morgenstern, Isabelle, Velazquez Camacho, Oscar, Jonas, Christoph, Alidousty, Christina, Wagner, Britta, Roessler, Stephanie, Albrecht, Thomas, Becker, Jessica, Richartz, Vanessa, Holz, Barbara, Hoppe, Sascha, Poh, Huay Mei, Chia, Burton Kuan Hui, Chan, Cheryl Xueli, Pathiraja, Thushangi, Teo, Audrey SM, Marquardt, Jens U., Khng, Alexis, Heise, Michael, Fei, Yao, Thieme, René, Klein, Sebastian, Hong, Jing Han, Dima, Simona O, Popescu, Irinel, Hoppe‐Lotichius, Maria, Buettner, Reinhard, Lautem, Anja, Otto, Gerd, Quaas, Alexander, Nagarajan, Niranjan, Rozen, Steve, Teh, Bin Tean, Goeppert, Benjamin, Drebber, Uta, Lang, Hauke, Tan, Patrick, Gockel, Ines, Schumacher, Johannes, Hillmer, Axel M.
Integrative genomic analyses of European intrahepatic cholangiocarcinoma: Novel ROS1 fusion gene and PBX1 as prognostic marker
Clinical and Translational Medicine, Volume 14, Number 6
DOI: 10.1002/ctm2.1723

Thorwirth, Sven, Steenbakkers, Kim, Danowski, Timon, Schmid, Philipp C., Bonah, Luis, Asvany, Oskar, Brünken, Sandra, Schlemmer, Stephan
Gas-Phase Infrared Action Spectroscopy of CH2Cl+ and CH3ClH+: Likely Protagonists in Chlorine Astrochemistry
Molecules, Volume 29, Number 3, Pages 665, January 2024
DOI: 10.3390/molecules29030665

Xiong, Xing, Cesarato, Nicole, Gossmann, Yasmina, Wehner, Maria, Kumar, Sheetal, Thiele, Holger, Demuth, Stephanie, Oji, Vinzenz, Geyer, Matthias, Hamm, Henning, Basmanav, F Buket, Betz, Regina C
A nonsense variant in KRT31 is associated with autosomal dominant monilethrix
British Journal of Dermatology, Volume 191, Number 6, Pages 979–987
DOI: 10.1093/bjd/ljae298

Vaid, Roshan, Thombare, Ketan, Mendez, Akram, Burgos-Panadero, Rebeca, Djos, Anna, Jachimowicz, Daniel, Lundberg, Kristina Ihrmark, Bartenhagen, Christoph, Kumar, Navinder, Tümmler, Conny, Sihlbom, Carina, Fransson, Susanne, Johnsen, John Inge, Kogner, Per, Martinsson, Tommy, Fischer, Matthias, Mondal, Tanmoy
METTL3 drives telomere targeting of TERRA lncRNA through m6A-dependent R-loop formation: a therapeutic target for ALT-positive neuroblastoma
Nucleic Acids Research, Volume 52, Number 5, Pages 2648–2671, January 2024
DOI: 10.1093/nar/gkad1242