Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
Nature communications
Authors:
Benita Menden, Rana D Incebacak Eltemur, German Demidov, Marc Sturm, Joohyun Park, Chrisovalantou Huridou, Florian Fath, Astrid Nümann, Alexander Baumann, Illja J Diets, Claudia Dufke, Martin Regensburger, Maria Rönnefarth, Vera Wilke, Nienke van Os, Stefan Vielhaber, Tim W Rattay, Zacharias Kohl, Susana Peralta, Priscila Pereira Sena, Melanie Kellner, Nadine Weissert, Andreas Traschütz, Lena Zeltner, Kai Boelmans, Natalie Deininger, Leon Schütz, Caspar Gross, Ana Beatriz Hinojosa Amaya, Katrin Raupach, Holger Hengel, Florian Harmuth, Jakob Admard, Ingrid Bader, Sarah Baumann, Friedemann Bender, Andrea Bevot, Almut Bischoff, Felix Boschann, Rebecca Buchert, Daniel Buchzik, Nicolas Casadei, Claudia B Catarino, Isabell Cordts, Kirsten Cremer, Marion Doebler-Neumann, Nadja Ehmke, Miriam Elbracht, Ruth J Falb, Thomas Feindt, Zofia Fleszar, Lea Gerstner, Dieter Gläser, Ute Grasshoff, Sarah Grosch, Kathrin Grundmann, Alexander Gutschalk, Manja Haaga, Stefanie Hayer, Ute Hehr, Yorck Hellenbroich, Wolfram Henn, Barbara Herr, Rebecca Herzog, Veronka Horber, Jonas Deppe, Nadja Kaiser, Christiane Kehrer, Martin Kehrer, Jan Kern, Christoph Keßler, Katharina Khuller, Hannah Klinkhammer, Urania Kotzaeridou, Peter Krawitz, Martina Kreiss, Hanna Küpper, Alice Kuster, Lucia Laugwitz, Anne Lesemann, Nadine Lichey, Tobias Linden, Boris Macek, Janine Magg, Elisabeth Mangold, Eva Manka, Iris Marquardt, Karl Mehnert, David Mengel, Susanne Morlot, Barbara Oehl-Jaschkowitz, Martje G Pauly, Melanie Philipp, Florentine Radelfahr, Maren Rautenberg, Angelika Riess, Carsten Saft, Beate Schlotter-Weigel, Axel Schmidt, Eva M C Schwaibold, Veronika Spahlinger, Stephanie Spranger, Katharina Marie Steiner, Claudia Stendel, Andreas Thieme, Andreas Tzschach, Ana Velic, Sarah Wiethoff, Carlo Wilke, Stephan Züchner, Simone Zittel, Ralf A Husain, Marcus Deschauer, Felix Distelmaier, Andreas Dufke, Holm Graessner, Bernhard Hemmer, Heike Jacobi, Thomas Klockgether, Thomas Klopstock, Xenia Kobeleva, Georg-Christoph Korenke, Alma Kuechler, Gregor Kuhlenbäumer, Ingo Kurth, Huu Phuc Nguyen, Gilbert Wunderlich, Kirsten E Zeuner, Stephan Klebe, Michaela Auer-Grumbach, Michaela Butryn, Jürgen Winkler, Dagmar Timmann, Matthis Synofzik, Bart van de Warrenburg, Rebecca Schüle, Ludger Schöls, Stephan Ossowski, Olaf Riess, Jonasz J Weber, Tobias B Haack
Genetic contribution to severe COVID-19 in adults under 60 years without major comorbidities in the German National Pandemic Cohort Network (NAPKON).
Human genomics
Authors:
Ayda Abolhassani, T Madhusankha Alawathurage, Axel Schmidt, Fabian Brand, Laura L Kilarski, Heidi Altmann, Edgar Dahl, Sandra Frank, Siri Göpel, Frank Hanses, Johannes Christian Hellmuth, Christian Herr, Achim J Kaasch, Robin Kobbe, Margarethe Justine Konik, Isabell Pink, Christoph Römmele, Jan Rupp, Christian S Scheer, Marc A Schneider, Christoph Stellbrink, Hans Christian Stubbe, Phil-Robin Tepasse, Andreas Teufel, István Vadász, Maria J G T Vehreschild, Martin Witzenrath, Gabriele Anton, Isabel Bröhl, Susanne Herold, Thomas Illig, Steffi Jiru-Hillmann, Peter Krawitz, Lazar Mitrov, Alexandra Philipsen, Sina M Pütz, Markus M Noethen, Peter Nuernberg, Jens-Peter Reese, Olaf Riess, Stefan Schreiber, Joachim Schultze, Fridolin Steinbeis, J Janne Vehreschild, Christian Wildberg, Kerstin U Ludwig, Eva C Schulte
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.
American journal of human genetics
Authors:
Nataliya Di Donato, Andrew Thom, Andreas Rump, Johannes N Greve, Juan Cadiñanos, Salvatore Calabro, Sara Cathey, Brian Chung, Heidi Cope, Maria Costales, Sara Cuvertino, Philine Dinkel, Kalliopi Erripi, Andrew E Fry, Livia Garavelli, Sabine Hoffjan, Wibke G Janzarik, Insa Kreimer, Grazia Mancini, Purificacion Marin-Reina, Andrea Meinhardt, Indra Niehaus, Daniela Pilz, Ivana Ricca, Fernando Santos Simarro, Evelin Schrock, Anja Marquardt, Manuel H Taft, Kamer Tezcan, Sofia Thunström, Judith Verhagen, Alain Verloes, Bernd Wollnik, Peter Krawitz, Tzung-Chien Hsieh, Michael Seifert, Michael Heide, Catherine B Lawrence, Neil A Roberts, Dietmar J Manstein, Adrian S Woolf, Siddharth Banka