Items where Author is "Steindl, Katharina"
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Article
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)
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: 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:https://doi.org/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: 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)
Gregor, Anne, Sadleir, Lynette G., Asadollahi, Reza
ORCID: 0000-0002-1497-0564
, Azzarello-Burri, Silvia, Battaglia, Agatino, Ousager, Lilian Bomme, Boonsawat, Paranchai, Bruel, Ange-Line, Buchert, Rebecca, Calpena, Eduardo, Cogné, Benjamin, Dallapiccola, Bruno, Distelmaier, Felix, Elmslie, Frances, Faivre, Laurence, Haack, Tobias B., Harrison, Victoria, Henderson, Alex, Hunt, David, Isidor, Bertrand, Joset, Pascal, Kumada, Satoko, Lachmeijer, Augusta M.A., Lees, Melissa, Lynch, Sally Ann, Martinez, Francisco, Matsumoto, Naomichi, McDougall, Carey, Mefford, Heather C., Miyake, Noriko, Myers, Candace T., Moutton, Sébastien, Nesbitt, Addie, Novelli, Antonio, Orellana, Carmen, Rauch, Anita, Rosello, Monica, Saida, Ken, Santani, Avni B., Sarkar, Ajoy, Scheffer, Ingrid E., Shinawi, Marwan, Steindl, Katharina, Symonds, Joseph D., Zackai, Elaine H., Reis, André, Sticht, Heinrich and Zweier, Christiane
(2018)
De Novo Variants in the F-Box Protein FBXO11 in 20 individuals with a variable neurodevelopmental disorder.
American Journal of Human Genetics, 103 (2).
pp. 305-316.
ISSN 0002-9297 (Print), 1537-6605 (Online)
(doi:https://doi.org/10.1016/j.ajhg.2018.07.003)
Asadollahi, Reza
ORCID: 0000-0002-1497-0564
, Strauss, Justin E, Zenker, Martin, Beuing, Oliver
ORCID: 0000-0001-8033-063X
, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M, Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranchai, Azzarello-Burri, Silvia, Bartholdi, Deborah, Papik, Michael, Zweier, Markus, Haas, Cordula, Ekici, Arif B
ORCID: 0000-0001-6099-7066
, Baumer, Alessandra, Boltshauser, Eugen, Steindl, Katharina, Nothnagel, Michael
ORCID: 0000-0001-8305-7114
, Schinzel, Albert, Stoeckli, Esther T and Rauch, Anita
ORCID: 0000-0003-2930-3163
(2018)
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
European Journal of Human Genetics, 26 (2).
pp. 197-209.
ISSN 1018-4813 (Print), 1476-5438 (Online)
(doi:https://doi.org/10.1038/s41431-017-0019-9)
Asadollahi, Reza
ORCID: 0000-0002-1497-0564
, Zweier, Markus, Gogoll, Laura, Schiffmann, Raphael, Sticht, Heinrich
ORCID: 0000-0001-5644-045X
, Steindl, Katharina and Rauch, Anita
(2017)
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
European Journal of Medical Genetics, 60 (9).
pp. 451-464.
ISSN 1769-7212
(doi:https://doi.org/10.1016/j.ejmg.2017.06.004)
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)