epilepsy

Asadollahi, Reza ORCID: 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:https://doi.org/10.1093/hmg/ddad048)

genetic analysis

Popp, Bernt ORCID: 0000-0002-3679-1081 , Krumbiegel, Mandy, Grosch, Janina, Sommer, Annika, Uebe, Steffen, Kohl, Zacharias ORCID: 0000-0002-4147-8866 , Plötz, Sonja, Farrell, Michaela, Trautmann, Udo, Kraus, Cornelia, Ekici, Arif B. ORCID: 0000-0001-6099-7066 , Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Regensburger, Martin ORCID: 0000-0002-2172-7386 , Günther, Katharina, Rauch, Anita, Edenhofer, Frank, Winkler, Jürgen, Winner, Beate and Reis, André ORCID: 0000-0002-6301-6363 (2018) Need for high-resolution genetic analysis in iPSC: results and lessons from the ForIPS consortium. Scientific reports, 8:17201. ISSN 2045-2322 (Online) (doi:https://doi.org/10.1038/s41598-018-35506-0)

intellectual disability

Asadollahi, Reza ORCID: 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:https://doi.org/10.1093/hmg/ddad048)

iPSC

Asadollahi, Reza ORCID: 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:https://doi.org/10.1093/hmg/ddad048)

Popp, Bernt ORCID: 0000-0002-3679-1081 , Krumbiegel, Mandy, Grosch, Janina, Sommer, Annika, Uebe, Steffen, Kohl, Zacharias ORCID: 0000-0002-4147-8866 , Plötz, Sonja, Farrell, Michaela, Trautmann, Udo, Kraus, Cornelia, Ekici, Arif B. ORCID: 0000-0001-6099-7066 , Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Regensburger, Martin ORCID: 0000-0002-2172-7386 , Günther, Katharina, Rauch, Anita, Edenhofer, Frank, Winkler, Jürgen, Winner, Beate and Reis, André ORCID: 0000-0002-6301-6363 (2018) Need for high-resolution genetic analysis in iPSC: results and lessons from the ForIPS consortium. Scientific reports, 8:17201. ISSN 2045-2322 (Online) (doi:https://doi.org/10.1038/s41598-018-35506-0)

molecular karyotyping

Popp, Bernt ORCID: 0000-0002-3679-1081 , Krumbiegel, Mandy, Grosch, Janina, Sommer, Annika, Uebe, Steffen, Kohl, Zacharias ORCID: 0000-0002-4147-8866 , Plötz, Sonja, Farrell, Michaela, Trautmann, Udo, Kraus, Cornelia, Ekici, Arif B. ORCID: 0000-0001-6099-7066 , Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Regensburger, Martin ORCID: 0000-0002-2172-7386 , Günther, Katharina, Rauch, Anita, Edenhofer, Frank, Winkler, Jürgen, Winner, Beate and Reis, André ORCID: 0000-0002-6301-6363 (2018) Need for high-resolution genetic analysis in iPSC: results and lessons from the ForIPS consortium. Scientific reports, 8:17201. ISSN 2045-2322 (Online) (doi:https://doi.org/10.1038/s41598-018-35506-0)

NGS

Popp, Bernt ORCID: 0000-0002-3679-1081 , Krumbiegel, Mandy, Grosch, Janina, Sommer, Annika, Uebe, Steffen, Kohl, Zacharias ORCID: 0000-0002-4147-8866 , Plötz, Sonja, Farrell, Michaela, Trautmann, Udo, Kraus, Cornelia, Ekici, Arif B. ORCID: 0000-0001-6099-7066 , Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Regensburger, Martin ORCID: 0000-0002-2172-7386 , Günther, Katharina, Rauch, Anita, Edenhofer, Frank, Winkler, Jürgen, Winner, Beate and Reis, André ORCID: 0000-0002-6301-6363 (2018) Need for high-resolution genetic analysis in iPSC: results and lessons from the ForIPS consortium. Scientific reports, 8:17201. ISSN 2045-2322 (Online) (doi:https://doi.org/10.1038/s41598-018-35506-0)

SCN2A

Asadollahi, Reza ORCID: 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:https://doi.org/10.1093/hmg/ddad048)