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

Open source

DOI
10.1038/s41588-025-02361-5
Published
2025-10-22
Container
Nature Genetics
Publisher
Springer Science and Business Media LLC
Open access
unknown

Credibility signals

uncertain Score 64/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

Cite this work

BibTeX

@article{allodium:10.1038/s41588-025-02361-5,
  title = {Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function},
  author = {Reza Asadollahi and Aisha Ahmad and Paranchai Boonsawat and Jasmine Shahanoor Hinzen and Mareike Lohse and Boris Bouazza-Arostegui and Siqi Sun and Tillmann Utesch and Jonas D. Sommer and Dragana Ilic and Murugesh Padmanarayana and Kati Fischermanns and Mrinalini Ranjan and Moritz Boll and Chandran Ka and Amélie Piton and Francesca Mattioli and Bertrand Isidor and Katrin Õunap and Karit Reinson and Monica H. Wojcik and Christian R. Marshall and Saadet Mercimek-Andrews and Naomichi Matsumoto and Noriko Miyake and Bruno de Oliveira Stephan and Rachel Sayuri Honjo and Debora R. Bertola and Chong Ae Kim and Roman Yusupov and Heather C. Mefford and John Christodoulou and Joy Lee and Oliver Heath and Natasha J. Brown and Naomi Baker and Zornitza Stark and Martin Delatycki and Nicole J. Lake and Shimriet Zeidler and Linda Zuurbier and Saskia M. Maas and Chris C. de Kruiff and Farrah Rajabi and Lance H. Rodan and Stephanie A. Coury and Konrad Platzer and Henry Oppermann and Rami Abou Jamra and Skadi Beblo and Caroline Maxton and Robert Śmigiel and Hunter Underhill and Holly Dubbs and Alyssa Rosen and Katherine L. Helbig and Ingo Helbig and Sarah McKeown Ruggiero and Mark P. Fitzgerald and Dennis Kraemer and Carlos E. Prada and Jeffrey Tenney and Parul Jayakar and Sylvia Redon and Jérémie Lefranc and Kevin Uguen and Simone Race and Stephanie Efthymiou and Reza Maroofian and Henry Houlden and Sandra Coppens and Nicolas Deconinck and Balasubramaniem Ashokkumar and Perumal Varalakshmi and Vykunta Raju Gowda K and Fatemeh Eghbal and Ehsan Ghayoor Karimiani and Morteza Heidari and John Neidhardt and Marta Owczarek-Lipska and G. Christoph Korenke and Michael J. Bamshad and Philippe M. Campeau and Anna Lehman and Laura G. Hendon and Ingrid M. Wentzensen and Kristin G. Monaghan and Yanmin Chen and Anna Szuto and Ronald D. Cohn and Ping Yee Billie Au and Christoph Hübner and Felix Boschann and Kandamurugu Manickam and Daniel C. Koboldt and Aboulfazl Rad and Gabriela Oprea and Kristine K. Bachman and Andrea H. Seeley and Emanuele Agolini and Alessandra Terracciano and Piscopo Carmelo and Caleb Bupp and Bethany Grysko and Annick Rein-Rothschild and Bruria Ben Zeev and Amy Margolin and Jennifer Morrison and Aditi Dagli and Elliot Stolerman and Raymond J. Louie and Camerun Washington and Servi J. C. Stevens and Malou Heijligers and Fowzan S. Alkuraya and Jasmin Lisfeld and Axel Neu and Fabíola Paoli Monteiro and André Luiz Santos Pessoa and Antonio Edvan Camelo-Filho and Fernando Kok and Dwight Koeberl and Kacie Riley and Lydie Burglen and Diane Doummar and Bénédicte Héron and Cyril Mignot and Boris Keren and Perrine Charles and Caroline Nava and Felix P. Bernhard and Andrea A. Kühn and Sven Thoms and Ryan D. Morrie and Shila Mekhoubad and Eric M. Green and Sami J. Barmada and Aaron D. Gitler and Olaf Jahn and Jeong Seop Rhee and Christian Rosenmund and Mišo Mitkovski and Heinrich Sticht and Han Sun and Gerald Le Gac and Holger Taschenberger and Nils Brose and Jeremy S. Dittman and Anita Rauch and Noa Lipstein},
  year = {2025},
  journal = {Nature Genetics},
  doi = {10.1038/s41588-025-02361-5},
  url = {https://doi.org/10.1038/s41588-025-02361-5}
}

RIS

TY  - JOUR
TI  - Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
AU  - Reza Asadollahi
AU  - Aisha Ahmad
AU  - Paranchai Boonsawat
AU  - Jasmine Shahanoor Hinzen
AU  - Mareike Lohse
AU  - Boris Bouazza-Arostegui
AU  - Siqi Sun
AU  - Tillmann Utesch
AU  - Jonas D. Sommer
AU  - Dragana Ilic
AU  - Murugesh Padmanarayana
AU  - Kati Fischermanns
AU  - Mrinalini Ranjan
AU  - Moritz Boll
AU  - Chandran Ka
AU  - Amélie Piton
AU  - Francesca Mattioli
AU  - Bertrand Isidor
AU  - Katrin Õunap
AU  - Karit Reinson
AU  - Monica H. Wojcik
AU  - Christian R. Marshall
AU  - Saadet Mercimek-Andrews
AU  - Naomichi Matsumoto
AU  - Noriko Miyake
AU  - Bruno de Oliveira Stephan
AU  - Rachel Sayuri Honjo
AU  - Debora R. Bertola
AU  - Chong Ae Kim
AU  - Roman Yusupov
AU  - Heather C. Mefford
AU  - John Christodoulou
AU  - Joy Lee
AU  - Oliver Heath
AU  - Natasha J. Brown
AU  - Naomi Baker
AU  - Zornitza Stark
AU  - Martin Delatycki
AU  - Nicole J. Lake
AU  - Shimriet Zeidler
AU  - Linda Zuurbier
AU  - Saskia M. Maas
AU  - Chris C. de Kruiff
AU  - Farrah Rajabi
AU  - Lance H. Rodan
AU  - Stephanie A. Coury
AU  - Konrad Platzer
AU  - Henry Oppermann
AU  - Rami Abou Jamra
AU  - Skadi Beblo
AU  - Caroline Maxton
AU  - Robert Śmigiel
AU  - Hunter Underhill
AU  - Holly Dubbs
AU  - Alyssa Rosen
AU  - Katherine L. Helbig
AU  - Ingo Helbig
AU  - Sarah McKeown Ruggiero
AU  - Mark P. Fitzgerald
AU  - Dennis Kraemer
AU  - Carlos E. Prada
AU  - Jeffrey Tenney
AU  - Parul Jayakar
AU  - Sylvia Redon
AU  - Jérémie Lefranc
AU  - Kevin Uguen
AU  - Simone Race
AU  - Stephanie Efthymiou
AU  - Reza Maroofian
AU  - Henry Houlden
AU  - Sandra Coppens
AU  - Nicolas Deconinck
AU  - Balasubramaniem Ashokkumar
AU  - Perumal Varalakshmi
AU  - Vykunta Raju Gowda K
AU  - Fatemeh Eghbal
AU  - Ehsan Ghayoor Karimiani
AU  - Morteza Heidari
AU  - John Neidhardt
AU  - Marta Owczarek-Lipska
AU  - G. Christoph Korenke
AU  - Michael J. Bamshad
AU  - Philippe M. Campeau
AU  - Anna Lehman
AU  - Laura G. Hendon
AU  - Ingrid M. Wentzensen
AU  - Kristin G. Monaghan
AU  - Yanmin Chen
AU  - Anna Szuto
AU  - Ronald D. Cohn
AU  - Ping Yee Billie Au
AU  - Christoph Hübner
AU  - Felix Boschann
AU  - Kandamurugu Manickam
AU  - Daniel C. Koboldt
AU  - Aboulfazl Rad
AU  - Gabriela Oprea
AU  - Kristine K. Bachman
AU  - Andrea H. Seeley
AU  - Emanuele Agolini
AU  - Alessandra Terracciano
AU  - Piscopo Carmelo
AU  - Caleb Bupp
AU  - Bethany Grysko
AU  - Annick Rein-Rothschild
AU  - Bruria Ben Zeev
AU  - Amy Margolin
AU  - Jennifer Morrison
AU  - Aditi Dagli
AU  - Elliot Stolerman
AU  - Raymond J. Louie
AU  - Camerun Washington
AU  - Servi J. C. Stevens
AU  - Malou Heijligers
AU  - Fowzan S. Alkuraya
AU  - Jasmin Lisfeld
AU  - Axel Neu
AU  - Fabíola Paoli Monteiro
AU  - André Luiz Santos Pessoa
AU  - Antonio Edvan Camelo-Filho
AU  - Fernando Kok
AU  - Dwight Koeberl
AU  - Kacie Riley
AU  - Lydie Burglen
AU  - Diane Doummar
AU  - Bénédicte Héron
AU  - Cyril Mignot
AU  - Boris Keren
AU  - Perrine Charles
AU  - Caroline Nava
AU  - Felix P. Bernhard
AU  - Andrea A. Kühn
AU  - Sven Thoms
AU  - Ryan D. Morrie
AU  - Shila Mekhoubad
AU  - Eric M. Green
AU  - Sami J. Barmada
AU  - Aaron D. Gitler
AU  - Olaf Jahn
AU  - Jeong Seop Rhee
AU  - Christian Rosenmund
AU  - Mišo Mitkovski
AU  - Heinrich Sticht
AU  - Han Sun
AU  - Gerald Le Gac
AU  - Holger Taschenberger
AU  - Nils Brose
AU  - Jeremy S. Dittman
AU  - Anita Rauch
AU  - Noa Lipstein
PY  - 2025
JO  - Nature Genetics
DO  - 10.1038/s41588-025-02361-5
UR  - https://doi.org/10.1038/s41588-025-02361-5
ER  -

APA

Asadollahi, R., Ahmad, A., Boonsawat, P., Hinzen, J. S., Lohse, M., Bouazza-Arostegui, B., Sun, S., Utesch, T., Sommer, J. D., Ilic, D., Padmanarayana, M., Fischermanns, K., Ranjan, M., Boll, M., Ka, C., Piton, A., Mattioli, F., Isidor, B., Õunap, K., Reinson, K., Wojcik, M. H., Marshall, C. R., Mercimek-Andrews, S., Matsumoto, N., Miyake, N., Stephan, B. D. O., Honjo, R. S., Bertola, D. R., Kim, C. A., Yusupov, R., Mefford, H. C., Christodoulou, J., Lee, J., Heath, O., Brown, N. J., Baker, N., Stark, Z., Delatycki, M., Lake, N. J., Zeidler, S., Zuurbier, L., Maas, S. M., Kruiff, C. C. D., Rajabi, F., Rodan, L. H., Coury, S. A., Platzer, K., Oppermann, H., Jamra, R. A., Beblo, S., Maxton, C., Śmigiel, R., Underhill, H., Dubbs, H., Rosen, A., Helbig, K. L., Helbig, I., Ruggiero, S. M., Fitzgerald, M. P., Kraemer, D., Prada, C. E., Tenney, J., Jayakar, P., Redon, S., Lefranc, J., Uguen, K., Race, S., Efthymiou, S., Maroofian, R., Houlden, H., Coppens, S., Deconinck, N., Ashokkumar, B., Varalakshmi, P., K, V. R. G., Eghbal, F., Karimiani, E. G., Heidari, M., Neidhardt, J., Owczarek-Lipska, M., Korenke, G. C., Bamshad, M. J., Campeau, P. M., Lehman, A., Hendon, L. G., Wentzensen, I. M., Monaghan, K. G., Chen, Y., Szuto, A., Cohn, R. D., Au, P. Y. B., Hübner, C., Boschann, F., Manickam, K., Koboldt, D. C., Rad, A., Oprea, G., Bachman, K. K., Seeley, A. H., Agolini, E., Terracciano, A., Carmelo, P., Bupp, C., Grysko, B., Rein-Rothschild, A., Zeev, B. B., Margolin, A., Morrison, J., Dagli, A., Stolerman, E., Louie, R. J., Washington, C., Stevens, S. J. C., Heijligers, M., Alkuraya, F. S., Lisfeld, J., Neu, A., Monteiro, F. P., Pessoa, A. L. S., Camelo-Filho, A. E., Kok, F., Koeberl, D., Riley, K., Burglen, L., Doummar, D., Héron, B., Mignot, C., Keren, B., Charles, P., Nava, C., Bernhard, F. P., Kühn, A. A., Thoms, S., Morrie, R. D., Mekhoubad, S., Green, E. M., Barmada, S. J., Gitler, A. D., Jahn, O., Rhee, J. S., Rosenmund, C., Mitkovski, M., Sticht, H., Sun, H., Gac, G. L., Taschenberger, H., Brose, N., Dittman, J. S., Rauch, A., & Lipstein, N. (2025). Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function. Nature Genetics. https://doi.org/10.1038/s41588-025-02361-5

Source records