Incidence, Risk Factors, and Attributable Mortality of Secondary Infections in the Intensive Care Unit After Admission for Sepsis von van Vught, Lonneke A, Klein Klouwenberg, Peter M. C, Spitoni, Cristian, Scicluna, Brendon P, Wiewel, Maryse A, Horn, Janneke, Schultz, Marcus J, Nürnberg, Peter, Bonten, Marc J. M, Cremer, Olaf L, van der Poll, Tom

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The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans von Wirschell, Maureen, Olbrich, Heike, Werner, Claudius, Tritschler, Douglas, Bower, Raqual, Sale, Winfield S, Loges, Niki T, Pennekamp, Petra, Lindberg, Sven, Stenram, Unne, Carlén, Birgitta, Horak, Elisabeth, Köhler, Gabriele, Nürnberg, Peter, Nürnberg, Gudrun, Porter, Mary E, Omran, Heymut

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A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function von Hussain, Muhammad Sajid, Baig, Shahid Mahmood, Neumann, Sascha, Nürnberg, Gudrun, Farooq, Muhammad, Ahmad, Ilyas, Alef, Thomas, Hennies, Hans Christian, Technau, Martin, Altmüller, Janine, Frommolt, Peter, Thiele, Holger, Noegel, Angelika Anna, Nürnberg, Peter

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Mutations in FAM134B , encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy von Gal, Andreas, Huebner, Antje K, Baets, Jonathan, De Jonghe, Peter, Soehendra, Désirée, Nürnberg, Gudrun, Rotthier, Annelies, Senderek, Jan, Kaether, Christoph, Hübner, Christian A, Hennings, J Christopher, Timmerman, Vincent, Farrell, Sandra A, Pamminger, Torsten, Kurth, Ingo, Topaloglu, Haluk, Nürnberg, Peter

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Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency von Meimaridou, Eirini, Kowalczyk, Julia, Guasti, Leonardo, Hughes, Claire R, Wagner, Florian, Frommolt, Peter, Nürnberg, Peter, Mann, Nicholas P, Banerjee, Ritwik, Saka, H Nurcin, Chapple, J Paul, King, Peter J, Clark, Adrian J L, Metherell, Louise A

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Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency von Metherell, Louise A., Naville, Danielle, Halaby, George, Begeot, Martine, Huebner, Angela, Nürnberg, Gudrun, Nürnberg, Peter, Green, Jane, Tomlinson, Jeremy W., Krone, Nils P., Lin, Lin, Racine, Michael, Berney, Dan M., Achermann, John C., Arlt, Wiebke, Clark, Adrian J. L.

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Mutational dynamics between primary and relapse neuroblastomas von Schramm, Alexander, Köster, Johannes, Assenov, Yassen, Althoff, Kristina, Peifer, Martin, Mahlow, Ellen, Odersky, Andrea, Beisser, Daniela, Ernst, Corinna, Henssen, Anton G, Stephan, Harald, Schröder, Christopher, Heukamp, Lukas, Engesser, Anne, Kahlert, Yvonne, Theissen, Jessica, Hero, Barbara, Roels, Frederik, Altmüller, Janine, Nürnberg, Peter, Astrahantseff, Kathy, Gloeckner, Christian, De Preter, Katleen, Plass, Christoph, Lee, Sangkyun, Lode, Holger N, Henrich, Kai-Oliver, Gartlgruber, Moritz, Speleman, Frank, Schmezer, Peter, Westermann, Frank, Rahmann, Sven, Fischer, Matthias, Eggert, Angelika, Schulte, Johannes H

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Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry von OLBRICH, Heike, SCHMIDTS, Miriam, HURLES, Matthew E, CONSORTIUM, Ukk, KÖHLER, Gabriele, SCHROEDER, Josef, NÜRNBERG, Gudrun, NÜRNBERG, Peter, CHUNG, Eddie M. K, REINHARDT, Richard, MARTHIN, June K, NIELSEN, Kim G, WERNER, Claudius, MITCHISON, HannahM, OMRAN, Heymut, ONOUFRIADIS, Alexandros, LOGES, Niki T, RAIDT, Johanna, FANNI BANKI, Nora, SHOEMARK, Amelia, BURGOYNE, Tom, AL TURKI, Saeed

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Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome von Lemaire, Mathieu, Frémeaux-Bacchi, Véronique, Schaefer, Franz, Choi, Murim, Tang, Wai Ho, Le Quintrec, Moglie, Fakhouri, Fadi, Taque, Sophie, Nobili, François, Martinez, Frank, Ji, Weizhen, Overton, John D, Mane, Shrikant M, Nürnberg, Gudrun, Altmüller, Janine, Thiele, Holger, Morin, Denis, Deschenes, Georges, Baudouin, Véronique, Llanas, Brigitte, Collard, Laure, Majid, Mohammed A, Simkova, Eva, Nürnberg, Peter, Rioux-Leclerc, Nathalie, Moeckel, Gilbert W, Gubler, Marie Claire, Hwa, John, Loirat, Chantal, Lifton, Richard P

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Clonal dynamics towards the development of venetoclax resistance in chronic lymphocytic leukemia von Herling, Carmen D., Abedpour, Nima, Weiss, Jonathan, Schmitt, Anna, Jachimowicz, Ron Daniel, Merkel, Olaf, Cartolano, Maria, Oberbeck, Sebastian, Mayer, Petra, Berg, Valeska, Thomalla, Daniel, Kutsch, Nadine, Stiefelhagen, Marius, Cramer, Paula, Wendtner, Clemens-Martin, Persigehl, Thorsten, Saleh, Andreas, Altmüller, Janine, Nürnberg, Peter, Pallasch, Christian, Achter, Viktor, Lang, Ulrich, Eichhorst, Barbara, Castiglione, Roberta, Schäfer, Stephan C., Büttner, Reinhard, Kreuzer, Karl-Anton, Reinhardt, Hans Christian, Hallek, Michael, Frenzel, Lukas P., Peifer, Martin

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Long‐lived macrophage reprogramming drives spike protein‐mediated inflammasome activation in COVID‐19 von Theobald, Sebastian J, Simonis, Alexander, Georgomanolis, Theodoros, Kreer, Christoph, Zehner, Matthias, Eisfeld, Hannah S, Albert, Marie‐Christine, Chhen, Jason, Motameny, Susanne, Erger, Florian, Fischer, Julia, Malin, Jakob J, Gräb, Jessica, Winter, Sandra, Pouikli, Andromachi, David, Friederike, Böll, Boris, Koehler, Philipp, Vanshylla, Kanika, Gruell, Henning, Suárez, Isabelle, Hallek, Michael, Fätkenheuer, Gerd, Jung, Norma, Cornely, Oliver A, Lehmann, Clara, Tessarz, Peter, Altmüller, Janine, Nürnberg, Peter, Kashkar, Hamid, Klein, Florian, Koch, Manuel, Rybniker, Jan

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Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3 von Korenke, Georg‐Christoph, Eggert, Marlene, Thiele, Holger, Nürnberg, Peter, Sander, Thomas, Steinlein, Ortrud K.

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Demographic History of Oceania Inferred from Genome-wide Data von Wollstein, Andreas, Lao, Oscar, Becker, Christian, Brauer, Silke, Trent, Ronald J., Nürnberg, Peter, Stoneking, Mark, Kayser, Manfred

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Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length von Eckl, Katja-Martina, Tidhar, Rotem, Thiele, Holger, Oji, Vinzenz, Hausser, Ingrid, Brodesser, Susanne, Preil, Marie-Luise, Önal-Akan, Aysel, Stock, Friedrich, Müller, Dietmar, Becker, Kerstin, Casper, Ramona, Nürnberg, Gudrun, Altmüller, Janine, Nürnberg, Peter, Traupe, Heiko, Futerman, Anthony H., Hennies, Hans C.

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The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation von Schreml, Julia, Durmaz, Burak, Cogulu, Ozgur, Keupp, Katharina, Beleggia, Filippo, Pohl, Esther, Milz, Esther, Coker, Mahmut, Ucar, Sema Kalkan, Nürnberg, Gudrun, Nürnberg, Peter, Kuhn, Joachim, Ozkinay, Ferda

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A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome von Rutsch, Frank, MacDougall, Mary, Lu, Changming, Buers, Insa, Mamaeva, Olga, Nitschke, Yvonne, Rice, Gillian I., Erlandsen, Heidi, Kehl, Hans Gerd, Thiele, Holger, Nürnberg, Peter, Höhne, Wolfgang, Crow, Yanick J., Feigenbaum, Annette, Hennekam, Raoul C.

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Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study von Rosewich, Hendrik, MD, Thiele, Holger, MD, Ohlenbusch, Andreas, PhD, Maschke, Ulrike, MD, Altmüller, Janine, MD, Frommolt, Peter, PhD, Zirn, Birgit, PhD, Ebinger, Friedrich, MD, Siemes, Hartmut, Prof, Nürnberg, Peter, Prof, Brockmann, Knut, Prof, Gärtner, Jutta, Prof

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HaploPainter: a tool for drawing pedigrees with complex haplotypes von Thiele, Holger, Nürnberg, Peter

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Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation von Gardella, Elena, Becker, Felicitas, Møller, Rikke S., Schubert, Julian, Lemke, Johannes R., Larsen, Line H. G., Eiberg, Hans, Nothnagel, Michael, Thiele, Holger, Altmüller, Janine, Syrbe, Steffen, Merkenschlager, Andreas, Bast, Thomas, Steinhoff, Bernhard, Nürnberg, Peter, Mang, Yuan, Bakke Møller, Louise, Gellert, Pia, Heron, Sarah E., Dibbens, Leanne M., Weckhuysen, Sarah, Dahl, Hans Atli, Biskup, Saskia, Tommerup, Niels, Hjalgrim, Helle, Lerche, Holger, Beniczky, Sándor, Weber, Yvonne G.

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The genomic landscape across 474 surgically accessible epileptogenic human brain lesions von López-Rivera, Javier A, Leu, Costin, Macnee, Marie, Khoury, Jean, Hoffmann, Lucas, Coras, Roland, Kobow, Katja, Bhattarai, Nisha, Pérez-Palma, Eduardo, Hamer, Hajo, Brandner, Sebastian, Rössler, Karl, Bien, Christian G, Kalbhenn, Thilo, Pieper, Tom, Hartlieb, Till, Butler, Elizabeth, Genovese, Giulio, Becker, Kerstin, Altmüller, Janine, Niestroj, Lisa-Marie, Ferguson, Lisa, Busch, Robyn M, Nürnberg, Peter, Najm, Imad, Blümcke, Ingmar, Lal, Dennis

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