Items where Author is "Joset, Pascal"
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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)
Asadollahi, Reza
ORCID: 0000-0002-1497-0564
, Britschgi, Christian, Joset, Pascal, Oneda, Beatrice, Schindler, Detlev
ORCID: 0000-0003-2451-8165
, Meier, Urs R. and Rauch, Anita
ORCID: 0000-0003-2930-3163
(2020)
Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia–telangiectasia mutated gene).
Molecular Genetics and Genomic Medicine, 8 (10):e1409.
ISSN 2324-9269 (Online)
(doi:https://doi.org/10.1002/mgg3.1409)
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)
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
, 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)
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)