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Gerber, Céline B; Fliedner, Anna; Bartsch, Oliver; Berland, Siren; Dewenter, Malin; Haug, Marte; Hayes, Ian; Marin-Reina, Purificacion; Mark, Paul R; Martinez-Castellano, Francisco; Maystadt, Isabelle; Karadurmus, Deniz; Steindl, Katharina; Wiesener, Antje; Zweier, Markus; Sticht, Heinrich; Zweier, Christiane (2022). Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6. Clinical genetics, 102(3), pp. 182-190. Wiley 10.1111/cge.14173
Condoluci, Adalgisa; Théaudin, Marie; Schwotzer, Rahel; Pazhenkottil, Aju P; Arosio, Paolo; Averaimo, Manuela; Bacher, Ulrike; Bode, Peter; Cavalli, Andrea; Dirnhofer, Stefan; Djerbi, Nadia; Dobner, Stephan; Fehr, Thomas; Garofalo, Maura; Gaspert, Ariana; Gerull, Sabine; Heimgartner, Raphael; Hübers, Annemarie; Jung, Hans H; Kessler, Chiara; ... (2021). Management of transthyretin amyloidosis. Swiss medical weekly, 151(w30053), w30053. EMH Media 10.4414/smw.2021.w30053
Schwotzer, Rahel; Flammer, Andreas J; Gerull, Sabine; Pabst, Thomas; Arosio, Paolo; Averaimo, Manuela; Bacher, Vera; Bode, Peter; Cavalli, Andrea; Concoluci, Adalgisa; Dirnhofer, Stefan; Djerbi, Nadia; Dobner, Stephan W.; Fehr, Thomas; Garofalo, Maura; Gaspert, Ariana; Heimgartner, Raphael; Hübers, Annemarie; Jung, Hans H; Kessler, Chiara; ... (2020). Expert recommendation from the Swiss Amyloidosis Network (SAN) for systemic AL-amyloidosis. Swiss medical weekly, 150(w20364), w20364. EMH Media 10.4414/smw.2020.20364
Papuc, Sorina M; Abela, Lucia; Steindl, Katharina; Begemann, Anaïs; Simmons, Thomas L; Schmitt, Bernhard; Zweier, Markus; Oneda, Beatrice; Socher, Eileen; Crowther, Lisa M; Wohlrab, Gabriele; Gogoll, Laura; Poms, Martin; Seiler, Michelle; Papik, Michael; Baldinger, Rosa; Baumer, Alessandra; Asadollahi, Reza; Kroell-Seger, Judith; Schmid, Regula; ... (2019). The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. European journal of human genetics, 27(3), pp. 408-421. Nature Publishing Group 10.1038/s41431-018-0299-8
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
