Publication
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
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, 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 Lipstein
Nature Genetics, October 2025, Springer Science + Business Media
DOI: 10.1038/s41588-025-02361-5