clinical genetics

Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Oneda, Beatrice, Joset, Pascal, Azzarello-Burri, Silvia, Bartholdi, Deborah, Steindl, Katharina, Vincent, Marie, Cobilanschi, Joana, Sticht, Heinrich, Baldinger, Rosa, Reissmann, Regina, Sudholt, Irene, Thiel, Christian T, Ekici, Arif B, Reis, André, Bijlsma, Emilia K, Andrieux, Joris, Dieux, Anne, FitzPatrick, David, Ritter, Susanne, Baumer, Alessandra, Latal, Beatrice, Plecko, Barbara, Jenni, Oskar G and Rauch, Anita (2014) The clinical significance of small copy number variants in neurodevelopmental disorders. Journal of Medical Genetics, 51 (10). pp. 677-688. ISSN 0022-2593 (Print), 1468-6244 (Online) (doi:https://doi.org/10.1136/jmedgenet-2014-102588)

copy-number

Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Oneda, Beatrice, Joset, Pascal, Azzarello-Burri, Silvia, Bartholdi, Deborah, Steindl, Katharina, Vincent, Marie, Cobilanschi, Joana, Sticht, Heinrich, Baldinger, Rosa, Reissmann, Regina, Sudholt, Irene, Thiel, Christian T, Ekici, Arif B, Reis, André, Bijlsma, Emilia K, Andrieux, Joris, Dieux, Anne, FitzPatrick, David, Ritter, Susanne, Baumer, Alessandra, Latal, Beatrice, Plecko, Barbara, Jenni, Oskar G and Rauch, Anita (2014) The clinical significance of small copy number variants in neurodevelopmental disorders. Journal of Medical Genetics, 51 (10). pp. 677-688. ISSN 0022-2593 (Print), 1468-6244 (Online) (doi:https://doi.org/10.1136/jmedgenet-2014-102588)

developmental

Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Oneda, Beatrice, Joset, Pascal, Azzarello-Burri, Silvia, Bartholdi, Deborah, Steindl, Katharina, Vincent, Marie, Cobilanschi, Joana, Sticht, Heinrich, Baldinger, Rosa, Reissmann, Regina, Sudholt, Irene, Thiel, Christian T, Ekici, Arif B, Reis, André, Bijlsma, Emilia K, Andrieux, Joris, Dieux, Anne, FitzPatrick, David, Ritter, Susanne, Baumer, Alessandra, Latal, Beatrice, Plecko, Barbara, Jenni, Oskar G and Rauch, Anita (2014) The clinical significance of small copy number variants in neurodevelopmental disorders. Journal of Medical Genetics, 51 (10). pp. 677-688. ISSN 0022-2593 (Print), 1468-6244 (Online) (doi:https://doi.org/10.1136/jmedgenet-2014-102588)

diagnostics

Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Oneda, Beatrice, Joset, Pascal, Azzarello-Burri, Silvia, Bartholdi, Deborah, Steindl, Katharina, Vincent, Marie, Cobilanschi, Joana, Sticht, Heinrich, Baldinger, Rosa, Reissmann, Regina, Sudholt, Irene, Thiel, Christian T, Ekici, Arif B, Reis, André, Bijlsma, Emilia K, Andrieux, Joris, Dieux, Anne, FitzPatrick, David, Ritter, Susanne, Baumer, Alessandra, Latal, Beatrice, Plecko, Barbara, Jenni, Oskar G and Rauch, Anita (2014) The clinical significance of small copy number variants in neurodevelopmental disorders. Journal of Medical Genetics, 51 (10). pp. 677-688. ISSN 0022-2593 (Print), 1468-6244 (Online) (doi:https://doi.org/10.1136/jmedgenet-2014-102588)

genome-wide

Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Oneda, Beatrice, Joset, Pascal, Azzarello-Burri, Silvia, Bartholdi, Deborah, Steindl, Katharina, Vincent, Marie, Cobilanschi, Joana, Sticht, Heinrich, Baldinger, Rosa, Reissmann, Regina, Sudholt, Irene, Thiel, Christian T, Ekici, Arif B, Reis, André, Bijlsma, Emilia K, Andrieux, Joris, Dieux, Anne, FitzPatrick, David, Ritter, Susanne, Baumer, Alessandra, Latal, Beatrice, Plecko, Barbara, Jenni, Oskar G and Rauch, Anita (2014) The clinical significance of small copy number variants in neurodevelopmental disorders. Journal of Medical Genetics, 51 (10). pp. 677-688. ISSN 0022-2593 (Print), 1468-6244 (Online) (doi:https://doi.org/10.1136/jmedgenet-2014-102588)

HEK293T cells

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: 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:https://doi.org/10.1186/s10020-019-0073-6)

patch clamp

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: 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:https://doi.org/10.1186/s10020-019-0073-6)

SCN2A variants

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: 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:https://doi.org/10.1186/s10020-019-0073-6)