Items where Author is "Papik, Michael"

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adrenal insufficiency C5orf42 ciliopathies congenital heart defects dominant negative genetic counseling haploinsufficiency KIF7 macrocephaly MCPH microcephaly mirror phenotype mitochondria primary microcephaly secondary microcephaly SHH tumor suppressor gene Wnt signaling ZNRF3

Number of items: 19.

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)

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

congenital heart defects

dominant negative

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)

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