Article

Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Delvendahl, Igor, Muff, Rebecca, Tan, Ge, Rodríguez, Daymé González, Turan, Soeren, Russo, Martina, Oneda, Beatrice, Joset, Pascal, Boonsawat, Paranchai, Masood, Rahim, Mocera, Martina, Ivanovski, Ivan, Baumer, Alessandra, Bachmann-Gagescu, Ruxandra, Schlapbach, Ralph, Rehrauer, Hubert, Steindl, Katharina, Begemann, Anaïs, Reis, André, Winkler, Jürgen, Winner, Beate, Müller, Martin and Rauch, Anita (2023) Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons. Human Molecular Genetics, 32 (13). pp. 2192-2204. ISSN 0964-6906 (Print), 1460-2083 (Online) (doi:10.1093/hmg/ddad048)

Boonsawat, Paranchai, Joset, Pascal, Steindl, Katharina, Oneda, Beatrice, Gogoll, Laura, Azzarello-Burri, Silvia, Sheth, Frenny, Datar, Chaitanya, Verma, Ishwar C., Puri, Ratna Dua, Zollino, Marcella, Bachmann-Gagescu, Ruxandra, Niedrist, Dunja, Papik, Michael, Figueiro-Silva, Joana, Masood, Rahim, Zweier, Markus, Kraemer, Dennis, Lincoln, Sharyn, Rodan, Lance, Passemard, Sandrine, Drunat, Séverine, Verloes, Alain, Horn, Anselm H.C., Sticht, Heinrich, Steinfeld, Robert, Plecko, Barbara, Latal, Beatrice, Jenni, Oskar, Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564 and Rauch, Anita (2019) Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genetics in Medicine, 21 (9). pp. 2043-2058. ISSN 1098-3600 (Print), 1530-0366 (Online) (doi:10.1038/s41436-019-0464-7)

Begemann, Anaïs, Acuña, Mario A., Zweier, Markus, Vincent, Marie, Steindl, Katharina, Bachmann-Gagescu, Ruxandra, Hackenberg, Annette, Abela, Lucia, Plecko, Barbara, Kroell-Seger, Judith, Baumer, Alessandra, Yamakawa, Kazuhiro, Inoue, Yushi, Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Sticht, Heinrich, Zeilhofer, Hanns Ulrich and Rauch, Anita (2019) Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes. Molecular Medicine, 25 (1). ISSN 1076-1551 (Print), 1528-3658 (Online) (doi:10.1186/s10020-019-0073-6)