Genetics

Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Ahmad, Aisha, Boonsawat, Paranchai, Hinzen, Jasmine Shahanoor, Lohse, Mareike, Bouazza-Arostegui, Boris, Sun, Siqi, Utesch, Tillmann, Sommer, Jonas D, Ilic, Dragana, Padmanarayana, Murugesh, Fischermanns, Kati, Ranjan, Mrinalini, Boll, Moritz, Ka, Chandran, Piton, Amélie, Mattioli, Francesca, Isidor, Bertrand, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H., Marshall, Christian R., Mercimek-Andrews, Saadet, Matsumoto, Naomichi, Miyake, Noriko, de Oliveira Stephan, Bruno, Honjo, Rachel Sayuri, Bertola, Debora R., Kim, Chong Ae, Yusupov, Roman, Mefford, Heather C., Christodoulou, John, Lee, Joy, Heath, Oliver, Brown, Natasha J. and et., al. (2025) Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function. Nature Genetics. ISSN 1061-4036 (Print), 1546-1718 (Online) (doi:10.1038/s41588-025-02361-5)

neurodevelopmental syndrome

Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Ahmad, Aisha, Boonsawat, Paranchai, Hinzen, Jasmine Shahanoor, Lohse, Mareike, Bouazza-Arostegui, Boris, Sun, Siqi, Utesch, Tillmann, Sommer, Jonas D, Ilic, Dragana, Padmanarayana, Murugesh, Fischermanns, Kati, Ranjan, Mrinalini, Boll, Moritz, Ka, Chandran, Piton, Amélie, Mattioli, Francesca, Isidor, Bertrand, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H., Marshall, Christian R., Mercimek-Andrews, Saadet, Matsumoto, Naomichi, Miyake, Noriko, de Oliveira Stephan, Bruno, Honjo, Rachel Sayuri, Bertola, Debora R., Kim, Chong Ae, Yusupov, Roman, Mefford, Heather C., Christodoulou, John, Lee, Joy, Heath, Oliver, Brown, Natasha J. and et., al. (2025) Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function. Nature Genetics. ISSN 1061-4036 (Print), 1546-1718 (Online) (doi:10.1038/s41588-025-02361-5)

UNC13A

Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Ahmad, Aisha, Boonsawat, Paranchai, Hinzen, Jasmine Shahanoor, Lohse, Mareike, Bouazza-Arostegui, Boris, Sun, Siqi, Utesch, Tillmann, Sommer, Jonas D, Ilic, Dragana, Padmanarayana, Murugesh, Fischermanns, Kati, Ranjan, Mrinalini, Boll, Moritz, Ka, Chandran, Piton, Amélie, Mattioli, Francesca, Isidor, Bertrand, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H., Marshall, Christian R., Mercimek-Andrews, Saadet, Matsumoto, Naomichi, Miyake, Noriko, de Oliveira Stephan, Bruno, Honjo, Rachel Sayuri, Bertola, Debora R., Kim, Chong Ae, Yusupov, Roman, Mefford, Heather C., Christodoulou, John, Lee, Joy, Heath, Oliver, Brown, Natasha J. and et., al. (2025) Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function. Nature Genetics. ISSN 1061-4036 (Print), 1546-1718 (Online) (doi:10.1038/s41588-025-02361-5)