Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
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Authors: Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Boris Bouazza-Arostegui, Siqi Sun, Tillmann Utesch, Jonas D. Sommer, Dragana Ilic, Murugesh Padmanarayana, Kati Fischermanns, Mrinalini Ranjan, Moritz Boll, Chandran Ka, Amélie Piton, Francesca Mattioli, Bertrand Isidor, Katrin Õunap, Karit Reinson
and 130 other authors
Monica H. Wojcik, Christian R. Marshall, Saadet Mercimek-Andrews, Naomichi Matsumoto, Noriko Miyake, Bruno de Oliveira Stephan, Rachel Sayuri Honjo, Debora R. Bertola, Chong Ae Kim, Roman Yusupov, Heather C. Mefford, John Christodoulou, Joy Lee, Oliver Heath, Natasha J. Brown, Naomi Baker, Zornitza Stark, Martin Delatycki, Nicole J. Lake, Shimriet Zeidler, Linda Zuurbier, Saskia M. Maas, Chris C. de Kruiff, Farrah Rajabi, Lance H. Rodan, Stephanie A. Coury, Konrad Platzer, Henry Oppermann, Rami Abou Jamra, Skadi Beblo, Caroline Maxton, Robert Śmigiel, Hunter Underhill, Holly Dubbs, Alyssa Rosen, Katherine L. Helbig, Ingo Helbig, Sarah McKeown Ruggiero, Mark P. Fitzgerald, Dennis Kraemer, Carlos E. Prada, Jeffrey Tenney, Parul Jayakar, Sylvia Redon, Jérémie Lefranc, Kevin Uguen, Simone Race, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Sandra Coppens, Nicolas Deconinck, Balasubramaniem Ashokkumar, Perumal Varalakshmi, Vykunta Raju Gowda K, Fatemeh Eghbal, Ehsan Ghayoor Karimiani, Morteza Heidari, John Neidhardt, Marta Owczarek-Lipska, G. Christoph Korenke, Michael J. Bamshad, Philippe M. Campeau, Anna Lehman, Laura G. Hendon, Ingrid M. Wentzensen, Kristin G. Monaghan, Yanmin Chen, Anna Szuto, Ronald D. Cohn, Ping Yee Billie Au, Christoph Hübner, Felix Boschann, Kandamurugu Manickam, Daniel C. Koboldt, Aboulfazl Rad, Gabriela Oprea, Kristine K. Bachman, Andrea H. Seeley, Emanuele Agolini, Alessandra Terracciano, Piscopo Carmelo, Caleb Bupp, Bethany Grysko, Annick Rein-Rothschild, Bruria Ben Zeev, Amy Margolin, Jennifer Morrison, Aditi Dagli, Elliot Stolerman, Raymond J. Louie, Camerun Washington, Servi J. C. Stevens, Malou Heijligers, Fowzan S. Alkuraya, Jasmin Lisfeld, Axel Neu, Fabíola Paoli Monteiro, André Luiz Santos Pessoa, Antonio Edvan Camelo-Filho, Fernando Kok, Dwight Koeberl, Kacie Riley, Lydie Burglen, Diane Doummar, Bénédicte Héron, Cyril Mignot, Boris Keren, Perrine Charles, Caroline Nava, Felix P. Bernhard, Andrea A. Kühn, Sven Thoms, Ryan D. Morrie, Shila Mekhoubad, Eric M. Green, Sami J. Barmada, Aaron D. Gitler, Olaf Jahn, Jeong Seop Rhee, Christian Rosenmund, Mišo Mitkovski, Heinrich Sticht, Han Sun, Gerald Le Gac, Holger Taschenberger, Nils Brose, Jeremy S. Dittman, Anita Rauch, Noa LipsteinJournal: Nature genetics
Published: 22 October 2025
Type: Research article
Status: data only (how the code is found and verified)
License: CC BY
Institutions: University of Zurich (Switzerland), University of Greenwich (United Kingdom), Max Planck Institute for Multidisciplinary Sciences (Germany), Leibniz-Forschungsinstitut für Molekulare Pharmakologie (Germany) , Weill Cornell Medicine (United States), Humboldt-Universität zu Berlin (Germany), Université de Bretagne Occidentale (France), Centre Hospitalier Régional Universitaire de Brest (France), Institut de génétique et de biologie moléculaire et cellulaire (France), Nantes Université (France), Tartu University Hospital (Estonia), University of Tartu (Estonia), Harvard University (United States), Broad Institute (United States), Hospital for Sick Children (Canada), University of Alberta (Canada), Yokohama City University (Japan), National Center for Global Health and Medicine (Japan), Universidade de São Paulo (Brazil), Joe DiMaggio Children's Hospital (United States), St. Jude Children's Research Hospital (United States), Murdoch Children's Research Institute (Australia), The University of Melbourne (Australia), Royal Children's Hospital (Australia), Yale University (United States), Erasmus MC (Netherlands), University of Amsterdam (Netherlands), Amsterdam University Medical Centers (Netherlands), Boston Children's Hospital (United States), University of Colorado Anschutz (United States), Brigham and Women's Hospital (United States), Leipzig University (Germany), University Hospital Leipzig (Germany), Wroclaw Medical University (Poland), University of Utah (United States), Children's Hospital of Philadelphia (United States), University of Pennsylvania (United States), Lurie Children's Hospital (United States), Northwestern University (United States), University of Cincinnati (United States), Cincinnati Children's Hospital Medical Center (United States), Miami Children's Hospital (United States), BC Children's Hospital (Canada), UCL Queen Square Institute of Neurology (United Kingdom), Université Libre de Bruxelles (Belgium), Madurai Kamaraj University (India), Indira Gandhi Institute of Child Health (India), Tehran University of Medical Sciences (Iran), Carl von Ossietzky Universität Oldenburg (Germany), Klinikum Oldenburg (Germany), University of Washington (United States), Université de Montréal (Canada), University of British Columbia (Canada), University of Mississippi Medical Center (United States), GeneDx, LLC,Gaithersburg, MD USA, University of Calgary (Canada), Technische Universität Dresden (Germany), Berlin Institute of Health at Charité - Universitätsmedizin Berlin (Germany), Nationwide Children's Hospital (United States), The Ohio State University (United States), Geisinger Medical Center (United States), Bambino Gesù Children's Hospital (Italy), Ospedale Antonio Cardarelli (Italy), Corewell Health West Helen DeVos Children’s Hospital,Grand Rapids, MI USA, Sheba Medical Center (Israel), Tel Aviv University (Israel), Orlando Health (United States), Greenwood Genetic Center (United States), Maastricht University (Netherlands), King Faisal Specialist Hospital & Research Centre (Saudi Arabia), Alfaisal University (Saudi Arabia), University Medical Center Hamburg-Eppendorf (Germany), Mendelics (Brazil), Hospital Infantil Albert Sabin (Brazil), Duke University (United States), Sorbonne Université (France), Pitié-Salpêtrière Hospital (France), Universität Hamburg (Germany), Charité – Universitätsmedizin Berlin (Germany), Bielefeld University (Germany), University of Michigan (United States), Stanford University (United States), Universitätsmedizin Göttingen (Germany), Friedrich-Alexander-Universität Erlangen-Nürnberg (Germany)
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