Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons
Asadollahi, R, Delvendahl, I, Muff, R, Tan, G, Rodríguez, D G, Turan, S, Russo, M, Oneda, B, Joset, P, Boonsawat, P, Masood, R, Mocera, M, Ivanovski, I, Baumer, A, Bachmann-Gagescu, R, Schlapbach, R, Rehrauer, H, Steindl, K, Begemann, A, Reis, A, Winkler, J, Winner, B, Müller, M, Rauch, A
Published in Human molecular genetics (19.06.2023)
Published in Human molecular genetics (19.06.2023)
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Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability
Rosin, Nadine, Elcioglu, Nursel H, Beleggia, Filippo, Isgüven, Pinar, Altmüller, Janine, Thiele, Holger, Steindl, Katharina, Joset, Pascal, Rauch, Anita, Nürnberg, Peter, Wollnik, Bernd, Yigit, Gökhan
Published in Human molecular genetics (01.07.2015)
Published in Human molecular genetics (01.07.2015)
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PP03.15 – 2755: Clinical metabolomics reveals a novel plasma biomarker for Snyder Robinson syndrome (X-linked spermine synthase deficiency)
Abela, L, Simmons, L, Steindl, K, Schmitt, B, Mastrangelo, M, Joset, P, Papuc, M, Crowther, L.M, Mathis, D, Rauch, A, Plecko, B
Published in European journal of paediatric neurology (01.05.2015)
Published in European journal of paediatric neurology (01.05.2015)
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Journal Article
Molecular and Phenotypic Characterization of the RORB -Related Disorder
Gokce-Samar, Zeynep, Vetro, Annalisa, De Bellescize, Julitta, Pisano, Tiziana, Monteiro, Laloe, Penaud, Noémie, Korff, Christian M, Fluss, Joel, Marini, Carla, Cesaroni, Elisabetta, Alvarez, Blanca Mercedes, Sanlaville, Damien, Chatron, Nicolas, Arzimanoglou, Alexis A, Labalme, Audrey, Cuddapah, Vishnu A, Ruggiero, Sarah M, Lecoquierre, Francois, Nicolas, Gael, Marie, Guerrot Anne, Lebas, Axel, Testard, Herve O, Helbig, Katherine L, Ruiz, Anna, Ngoh, Adeline, Kurian, Manju A, Reid, Kimberley, Spaull, Robert, Joset, Pascal, Ramantani, Georgia, Steindl, Katharina, Krenn, Martin, Gerstl, Lucia, Vieker, Silvia, Craiu, Dana, Pendziwiat, Manuela, Haldeman-Englert, Chad, Kanivets, Ilya, Romanova, Irina, Rajan, Deepa S, Rosenfeld, Jill A, Au, Margaret, Grand, Katheryn, Graham, Jr, John, Isapof, Arnaud, Villeneuve, Nathalie, Smol, Thomas, Caumes, Roseline, Zacher, Pia, Neuser, Sonja, Tinschert, Sigrid, Platzer, Konrad, Bartolomaeus, Tobias, Mohnke, Ines, Radtke, Maximilian, Jamra, Rami Abou, Helbig, Ingo, Jansen, Floortje E, Koop, Klaas, Rudolf, Gabrielle, Küry, Sebastien, Courchet, Julien, Guerrini, Renzo, Lesca, Gaetan
Published in Neurology (23.01.2024)
Published in Neurology (23.01.2024)
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Journal Article
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
Parenti, Ilaria, Lehalle, Daphné, Nava, Caroline, Torti, Erin, Leitão, Elsa, Person, Richard, Mizuguchi, Takeshi, Matsumoto, Naomichi, Kato, Mitsuhiro, Nakamura, Kazuyuki, de Man, Stella A., Cope, Heidi, Shashi, Vandana, Friedman, Jennifer, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Muffels, Irena, van Hasselt, Peter M., Petit, Florence, Smol, Thomas, Le Guyader, Gwenaël, Bilan, Frédéric, Sorlin, Arthur, Vitobello, Antonio, Philippe, Christophe, van de Laar, Ingrid M. B. H., van Slegtenhorst, Marjon A., Campeau, Philippe M., Au, Ping Yee Billie, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamamoto, Tatsuya, Nomura, Yumiko, Louie, Raymond J., Lyons, Michael J., Dobson, Amy, Plomp, Astrid S., Motazacker, M. Mahdi, Kaiser, Frank J., Timberlake, Andrew T., Fuchs, Sabine A., Depienne, Christel, Mignot, Cyril
Published in Human genetics (01.07.2021)
Published in Human genetics (01.07.2021)
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Journal Article
Further delineation of a novel 2q11.1q11.2 micro-duplication syndrome
Azzarello-Burri, S., Joset, P., Andrieux, J., Lopes, F., Palmer, E., Czeschik, J., Demeer, Bénédicte, Duque, F., Kuechler, A., Maciel, P., Hackenberg, A., Oneda, B., Rauch, A.
Published in European journal of human genetics : EJHG (2018)
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Published in European journal of human genetics : EJHG (2018)
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Severe Case of Congenital Myasthenic Syndrome with Novel Mutations in MUSK
Giarrana, M., Joset, P., Robb, S., Steindl, K., Rauch, A., Klein, A.
Published in Neuropediatrics (11.09.2014)
Published in Neuropediatrics (11.09.2014)
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Conference Proceeding
Screening for gene function in chicken embryo using RNAi and electroporation
Stoeckli, Esther T, Pekarik, Vladimir, Bourikas, Dimitris, Miglino, Nicola, Joset, Pascal, Preiswerk, Stephan
Published in Nature biotechnology (01.01.2003)
Published in Nature biotechnology (01.01.2003)
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Journal Article
A Combined Metabolic–Genetic Approach to Early-Onset Epileptic Encephalopathies: Results from a Swiss Study Cohort
Abela, L., Steindl, K., Simmons, L., Joset, P., Papuc, M., Mathis, D., Schmitt, B., Wohlrab, G., Klein, A., Asadollahi, R., Crowther, L., Sass, O., Hersberger, M., Rauch, A., Plecko, B.
Published in Neuropediatrics (20.04.2016)
Published in Neuropediatrics (20.04.2016)
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Conference Proceeding
Screening for gene function in chicken embryo using RNAi and electroporation
Pekarik, Vladimir, Bourikas, Dimitris, Miglino, Nicola, Joset, Pascal, Preiswerk, Stephan, Stoeckli, Esther T
Published in Nature biotechnology (01.02.2003)
Published in Nature biotechnology (01.02.2003)
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