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Bell, Lorenz M; Holm, Annegret; Matysiak, Uta; Driever, Wolfgang; Rössler, Jochen; Schanze, Denny; Wieland, Ilse; Niemeyer, Charlotte M; Zenker, Martin; Kapp, Friedrich G (2021). Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos. Human molecular genetics, 31(1), pp. 10-17. Oxford University Press 10.1093/hmg/ddab196
Asadollahi, Reza; Strauss, Justin E; Zenker, Martin; Beuing, Oliver; 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; Baumer, Alessandra; Boltshauser, Eugen; ... (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. Nature Publishing Group 10.1038/s41431-017-0019-9
Stamberger, Hannah; Nikanorova, Marina; Willemsen, Marjolein H; Accorsi, Patrizia; Angriman, Marco; Baier, Hartmut; Benkel-Herrenbrueck, Ira; Benoit, Valérie; Budetta, Mauro; Caliebe, Almuth; Cantalupo, Gaetano; Capovilla, Giuseppe; Casara, Gianluca; Courage, Carolina; Deprez, Marie; Destrée, Anne; Dilena, Robertino; Erasmus, Corrie E; Fannemel, Madeleine; Fjær, Roar; ... (2016). STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology, 86(10), pp. 954-962. Lippincott Williams & Wilkins 10.1212/WNL.0000000000002457
Kapp, Friedrich G.; Bazgir, Farhad; Mahammadzade, Nagi; Vassella, Erik; Döring, Yvonne; Karow, Axel; Seebauer, Caroline; Platz Batista da Silva, Natascha; Wohlgemuth, Walter A.; Krönig, Pia; Niemeyer, Charlotte M.; Schanze, Denny; Zenker, Martin; Eng, Whitney; Ahmadian, Mohammad R.; Baumgartner, Iris; Rössler, Jochen (2023). Somatic RIT1 indels identified in arteriovenous malformations hyperactivate RAS-MAPK signaling and are amenable to MEK inhibition (medRxiv). Cold Spring Harbor Laboratory 10.1101/2023.11.13.23298448
