Items where Author is "Joset, Pascal"

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Number of items: 39.

adrenal insufficiency

Boonsawat, Paranchai, Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Niedrist, Dunja, Steindl, Katharina, Begemann, Anaïs, Joset, Pascal, Bhoj, Elizabeth J., Li, Dong, Zackai, Elaine, Vetro, Annalisa, Barba, Carmen, Guerrini, Renzo, Whalen, Sandra, Keren, Boris, Khan, Amjad, Jing, Duan, Palomares Bralo, María, Rikeros Orozco, Emi, Hao, Qin, Schlott Kristiansen, Britta, Zheng, Bixia, Donnelly, Deirdre, Clowes, Virginia, Zweier, Markus, Papik, Michael, Siegel, Gabriele, Sabatino, Valeria, Mocera, Martina, Horn, Anselm H.C., Sticht, Heinrich and Rauch, Anita ORCID: 0000-0003-2930-3163 (2024) Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling. American Journal of Human Genetics. ISSN 0002-9297 (Print), 1537-6605 (Online) (doi:https://doi.org/10.1016/j.ajhg.2024.07.016)

ataxia-telangiectasia

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)

ATM

breast cancer

C5orf42

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)

ciliopathies

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)

congenital heart defects

copy-number

de novo variants

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)

developmental

diagnostics

dominant negative

epilepsy

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)

FBXO11

genetic counseling

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)

genome-wide

haploinsufficiency

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)

Items where Author is "Joset, Pascal"

adrenal insufficiency

ataxia-telangiectasia

ATM

breast cancer

C5orf42

ciliopathies

clinical genetics

congenital heart defects

copy-number

de novo variants

developmental

diagnostics

dominant negative

epilepsy

FBXO11

genetic counseling

genome-wide

haploinsufficiency

heart defects

hypomorphic variants

intellectual disability

iPSC

KIF7

macrocephaly

MCPH

MED13L

microcephaly

mirror phenotype

mitochondria

neurodevelopmental disorder

primary microcephaly

radiotherapy

SCN2A

secondary microcephaly

SHH

tumor suppressor gene

Wnt signaling

ZNRF3

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