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)

heart defects

Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Oneda, Beatrice, Sheth, Frenny, Azzarello-Burri, Silvia, Baldinger, Rosa, Joset, Pascal, Latal, Beatrice, Knirsch, Walter, Desai, Soaham, Baumer, Alessandra, Houge, Gunnar, Andrieux, Joris and Rauch, Anita (2013) Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. European Journal of Human Genetics, 21 (10). pp. 1100-1104. ISSN 1018-4813 (Print), 1476-5438 (Online) (doi:https://doi.org/10.1038/ejhg.2013.17)

intellectual disability

Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Oneda, Beatrice, Sheth, Frenny, Azzarello-Burri, Silvia, Baldinger, Rosa, Joset, Pascal, Latal, Beatrice, Knirsch, Walter, Desai, Soaham, Baumer, Alessandra, Houge, Gunnar, Andrieux, Joris and Rauch, Anita (2013) Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. European Journal of Human Genetics, 21 (10). pp. 1100-1104. ISSN 1018-4813 (Print), 1476-5438 (Online) (doi:https://doi.org/10.1038/ejhg.2013.17)

MED13L

Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Oneda, Beatrice, Sheth, Frenny, Azzarello-Burri, Silvia, Baldinger, Rosa, Joset, Pascal, Latal, Beatrice, Knirsch, Walter, Desai, Soaham, Baumer, Alessandra, Houge, Gunnar, Andrieux, Joris and Rauch, Anita (2013) Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. European Journal of Human Genetics, 21 (10). pp. 1100-1104. ISSN 1018-4813 (Print), 1476-5438 (Online) (doi:https://doi.org/10.1038/ejhg.2013.17)