Matias Wagner - Institute of Human Genetics, Helmholtz Zentrum München;Institute of Human Genetics, Technical University Munich;Institute of Neurogenomics, Helmholtz Zentrum München;Institute of Human Genetics, Technical University Munich

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Holistic Exome-Based Genetic Testing in Adults with Epilepsy

Martin Krenn,Matias Wagner,Karin Trimmel, Silvia Bonelli,Jakob Rath, Judith Jud,Michelle Schwarz,Ivan Milenkovic, Rosa Weng, Johannes Koren,Christoph Baumgartner, Melanie Brugger,Theresa Brunet,Elisabeth Graf,Juliane Winkelmann, Susanne Aull-Watschinger,Fritz Zimprich, Ekaterina Pataraia

Neurology Geneticsno. 3 (2025): e200260-e200260

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TXNIP is a Critical Regulator of Human Cardiometabolic Health

Julia-Josefine Scholz, Sharlaine Y.L. Piel, Ioannis Evangelakos,Christian Mueller,Daniela Karall, Birgit Reinhart-Steininger,Katja Steinbruecker,Thomas Stulnig, Julia Rohde, Johannes Mayr,Matias Wagner, Ali Biabani, Thomas Mair,Hartmut Schlueter,Soeren Weidemann, Viktoria Chirico, Christina Weiler-Normann, Christian Hagel, A S Knisely,Joerg Heeren, Benedikt Schoser,Christian Kubisch,Maja Hempel,Holger Prokisch, Saskia B. Wortmann,Anna Worthmann,Christian Schlein

medrxiv（2025）

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Antisense Oligonucleotide Treatment in a Preterm Infant with Early-Onset SCN2A Developmental and Epileptic Encephalopathy

Matias Wagner,Géza Berecki, Walid Fazeli,Claudia Nussbaum,Andreas W Flemmer, Silvana Frizzo, Farina Heer,Florian Heinen, Robert Horton, Henry Jacotin, William Motel, Brian Spar,Christoph Klein, Corinna Siegel,Christoph Hübener, Sophia Stöcklein, Marco Paolini, Martin Staudt,Moritz Tacke,Markus Wolff,Steven Petrou,Marcio Souza,Ingo Borggraefe

Nature medicine (2025)

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Dominant Variants in Major Spliceosome U4 and U5 Small Nuclear RNA Genes Cause Neurodevelopmental Disorders Through Splicing Disruption

Caroline Nava, Benjamin Cogne, Amandine Santini,Elsa Leitão,François Lecoquierre, Yuyang Chen,Sarah L Stenton,Thomas Besnard, Solveig Heide, Sarah Baer, Abhilasha Jakhar, Sonja Neuser,Boris Keren, Anne Faudet,Sylvie Forlani, Marie Faoucher, Kevin Uguen,Konrad Platzer,Alexandra Afenjar, Jean-Luc Alessandri, Stephanie Andres, Chloé Angelini, Bernard Aral, Benoit Arveiler,Tania Attie-Bitach, Marion Aubert Mucca, Guillaume Banneau,Tahsin Stefan Barakat,Giulia Barcia,Stéphanie Baulac, Claire Beneteau, Fouzia Benkerdou, Virginie Bernard,Stéphane Bézieau,Dominique Bonneau,Marie-Noelle Bonnet-Dupeyron, Simon Boussion,Odile Boute, Elise Brischoux-Boucher, Samantha J Bryen,Julien Buratti, Tiffany Busa,Almuth Caliebe,Yline Capri, Kévin Cassinari, Roseline Caumes, Camille Cenni, Pascal Chambon,Perrine Charles,John Christodoulou,Cindy Colson, Solène Conrad, Auriane Cospain, Juliette Coursimault,Thomas Courtin, Madeline Couse,Charles Coutton, Isabelle Creveaux, Alissa M D'Gama,Benjamin Dauriat, Jean-Madeleine de Sainte Agathe,Giulia Del Gobbo, Andrée Delahaye-Duriez, Julian Delanne, Anne-Sophie Denommé-Pichon, Anne Dieux-Coeslier, Laura Do Souto Ferreira, Martine Doco-Fenzy, Stephan Drukewitz, Véronique Duboc,Christèle Dubourg,Yannis Duffourd, David Dyment,Salima El Chehadeh, Monique Elmaleh,Laurence Faivre, Samuel Fennelly, Hanna Fischer,Mélanie Fradin, Camille Galludec Vaillant, Benjamin Ganne, Jamal Ghoumid, Himanshu Goel, Zeynep Gokce-Samar,Alice Goldenberg, Romain Gonfreville Robert, Svetlana Gorokhova, Louise Goujon, Victoria Granier, Mathilde Gras,John M Greally, Bianca Greiten, Paul Gueguen,Anne-Marie Guerrot,Saurav Guha,Anne Guimier,Tobias B Haack, Hamza Hadj Abdallah, Yosra Halleb, Radu Harbuz, Madeleine Harris,Julia Hentschel,Bénédicte Héron,Marc-Phillip Hitz,A Micheil Innes, Vincent Jadas, Louis Januel, Nolwenn Jean-Marçais,Vaidehi Jobanputra, Florence Jobic, Ludmila Jornea, Céline Jost,Sophie Julia,Frank J Kaiser, Daniel Kaschta, Sabine Kaya, Petra Ketteler, Bochra Khadija,Fabian Kilpert,Cordula Knopp,Florian Kraft, Ilona Krey, Marilyn Lackmy,Fanny Laffargue,Laetitia Lambert, Ryan Lamont,Vincent Laugel, Steven Laurie, Julie L Lauzon, Louis Lebreton,Marine Lebrun, Marine Legendre,Eric Leguern,Daphné Lehalle,Elodie Lejeune,Gaetan Lesca, Marion Lesieur-Sebellin, Jonathan Levy, Agnès Linglart,Stanislas Lyonnet, Kevin Lüthy, Alan S Ma, Corinne Mach,Jean-Louis Mandel, Lamisse Mansour-Hendili, Julien Marcadier, Victor Marin, Henri Margot, Valentine Marquet, Angèle May,Johannes A Mayr, Catherine Meridda, Vincent Michaud,Caroline Michot, Gwenael Nadeau,Sophie Naudion, Laetitia Nguyen,Mathilde Nizon, Frédérique Nowak,Sylvie Odent, Valerie Olin, Ikeoluwa A Osei-Owusu,Matthew Osmond,Katrin Õunap,Laurent Pasquier,Sandrine Passemard, Melissa Pauly, Olivier Patat, Marine Pensec, Laurence Perrin-Sabourin,Florence Petit, Christophe Philippe, Marc Planes,Annapurna Poduri,Céline Poirsier, Antoine Pouzet, Bradley Prince,Clément Prouteau,Aurora Pujol,Caroline Racine, Mélanie Rama, Francis Ramond, Kara Ranguin, Margaux Raway,André Reis,Mathilde Renaud,Nicole Revencu, Anne-Claire Richard, Lucile Riera-Navarro, Rocio Rius,Diana Rodriguez, Agustí Rodriguez-Palmero, Sophie Rondeau, Annika Roser-Unruh, Christelle Rougeot Jung,Hana Safraou,Véronique Satre,Pascale Saugier-Veber, Clément Sauvestre,Elise Schaefer, Wanqing Shao,Ina Schanze, Jan-Ulrich Schlump, Agatha Schlüter Martin,Caroline Schluth-Bolard,Sarah Schuhmann,Christopher Schröder, Monisha Sebastin,Sabine Sigaudy,Malte Spielmann,Marta Spodenkiewicz, Laura St Clair, Julie Steffann,Radka Stoeva,Harald Surowy, Mark A Tarnopolsky, Calina Todosi,Annick Toutain, Frédéric Tran Mau-Them, Astrid Unterlauft, Julien Van-Gils,Clémence Vanlerberghe,Georgia Vasileiou,Gabriella Vera, André Verdel,Alain Verloes, Yoann Vial,Cédric Vignal,Marie Vincent,Catherine Vincent-Delorme, Aline Vincent-Devulder,Antonio Vitobello,Sacha Weber,Marjolaine Willems, Khaoula Zaafrane-Khachnaoui,Pia Zacher, Lena Zeltner,Alban Ziegler,Wojciech P Galej,Hélène Dollfus, Christel Thauvin, Kym M Boycott, Pierre Marijon, Alban Lermine,Valérie Malan,Marlène Rio,Alma Kuechler,Bertrand Isidor,Séverine Drunat, Thomas Smol,Nicolas Chatron,Amélie Piton, Gael Nicolas,Matias Wagner,Rami Abou Jamra,Delphine Héron,Cyril Mignot, Pierre Blanc,Anne O'Donnell-Luria,Nicola Whiffin,Camille Charbonnier, Clément Charenton,Julien Thevenon,Christel Depienne

Nature geneticsno. 6 (2025): 1374-1388

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Distinct Pathogenic Mutations in ARF1 Allow Dissection of Its Dual Role in Cgas-Sting Signalling

Johannes Lang, Tim Bergner, Julia Zinngrebe, Alice Lepelley,Katharina Vill,Steffen Leiz, Meinhard Wlaschek,Matias Wagner, Karin Scharffetter-Kochanek,Pamela Fischer-Posovszky, Clarissa Read,Yanick J Crow, Maximilian Hirschenberger, Konstantin M J Sparrer

EMBO reportsno. 9 (2025): 2232-2261

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Next-generation Phenotyping Integrated in a National Framework for Patients with Ultrarare Disorders Improves Genetic Diagnostics and Yields New Molecular Findings