Liste von Artikeln ("Exportierbar")

ZORA Publication List

Publications

• Alves, Victoria Cunha; Carro, Eva; Figueiro-Silva, Joana (2024). Unveiling DNA methylation in Alzheimer’s disease: a review of array-based human brain studies. Neural Regeneration Research, 19(11):2365-2376.
• Kolokotronis, Konstantinos; Suter, Aude-Annick; Ivanovski, Ivan; Frey, Tanja; Bahr, Angela; Rauch, Anita; Steindl, Katharina (2024). DPF2-related Coffin-Siris syndrome type 7 in two generations. European Journal of Medical Genetics, 69:104945.
• Meier-Abt, Fabienne; Kraemer, Dennis; Braun, Nils; Reinehr, Michael; Stutz-Grunder, Eveline; Steindl, Katharina; Rauch, Anita (2024). Further evidence that the neurodevelopmental gene FBXW7 predisposes to Wilms tumor. American Journal of Medical Genetics. Part A, 194(6):e63528.
• Yang, Fang; Begemann, Anaïs; Reichhart, Nadine; Haeckel, Akvile; Steindl, Katharina; Schellenberger, Eyk; Sturm, Ronja Fini; Barth, Magalie; Bassani, Sissy; Boonsawat, Paranchai; Courtin, Thomas; Delobel, Bruno; Gunning, Boudewijn; Hardies, Katia; Jennesson, Mélanie; Legoff, Louis; Linnankivi, Tarja; Prouteau, Clément; Smal, Noor; Spodenkiewicz, Marta; Toelle, Sandra P; Van Gassen, Koen; Van Paesschen, Wim; Verbeek, Nienke; Ziegler, Alban; Zweier, Markus; Horn, Anselm H C; Sticht, Heinrich; Lerche, Holger; Weckhuysen, Sarah; Strauss, Olaf; Rauch, Anita (2024). Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect. American Journal of Human Genetics:Epub ahead of print.
• Holfeld, Aleš; Schuster, Dina; Sesterhenn, Fabian; Gillingham, Alison K; Stalder, Patrick; Haenseler, Walther; Barrio-Hernandez, Inigo; Ghosh, Dhiman; Vowles, Jane; Cowley, Sally A; Nagel, Luise; Khanppnavar, Basavraj; Serdiuk, Tetiana; Beltrao, Pedro; Korkhov, Volodymyr M; Munro, Sean; Riek, Roland; de Souza, Natalie; Picotti, Paola (2024). Systematic identification of structure-specific protein–protein interactions. Molecular Systems Biology:Epub ahead of print.
• Yde Ohki, Cristine Marie. Involvement of the Wnt Signaling in Methylphenidate (Ritalin) Treatment of ADHD. 2024, University of Zurich, Faculty of Science.
• Alves, Victoria Cunha; Figueiro-Silva, Joana; Trullas, Ramon; Ferrer, Isidre; Carro, Eva (2024). Olfactory Receptor OR2K2 Expression in Human Choroid Plexus as a Potential Marker in Early Sporadic Alzheimer’s Disease. Genes, 15(3):385.
• Nashabat, Marwan; Nabavizadeh, Nasrinsadat; Saraçoğlu, Hilal Pırıl; Sarıbaş, Burak; Avcı, Şahin; Börklü, Esra; Beillard, Emmanuel; Yılmaz, Elanur; Uygur, Seyide Ecesu; Kayhan, Cavit Kerem; Bosco, Luca; Eren, Zeynep Bengi; Steindl, Katharina; Richter, Manuela Friederike; Bademci, Guney; Rauch, Anita; Fattahi, Zohreh; Valentino, Maria Lucia; Connolly, Anne M; Bahr, Angela; Viola, Laura; Bergmann, Anke Katharina; Rocha, Maria Eugenia; Peart, LeShon; Castro-Rojas, Derly Liseth; Bültmann, Eva; Khan, Suliman; Giarrana, Miriam Liliana; Teleanu, Raluca Ioana; Stettner, Georg M; et al (2024). SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. Nature Communications, 15(1758):1758.
• Cabello Ferrete, Elena María. Utilizing Genetic Linkage and Rare Variant Association Studies to Unravel Novel Disease Etiologies. 2024, University of Zurich, Mathematisch-naturwissenschaftliche Fakultät.
• Brouwers, Sofie; Heimgartner, Raphael; Laptseva, Natallia; Aguzzi, Adriano; Ehl, Niklas F; Fehr, Thomas; Hitz, Felicitas; Jung, Hans H; Kälin, Joel; Manz, Markus G; Müllhaupt, Beat; Ruschitzka, Frank; Seeger, Harald; Stussi, Georg; Zweier, Markus; Flammer, Andreas J; Gerber, Bernhard; Schwotzer, Rahel (2024). Historic characteristics and mortality of patients in the Swiss Amyloidosis Registry. Swiss Medical Weekly, 154(2):3485.
• Caraffi, Stefano Giuseppe; van der Laan, Liselot; Rooney, Kathleen; Trajkova, Slavica; Zuntini, Roberta; Relator, Raissa; Haghshenas, Sadegheh; Levy, Michael A; Baldo, Chiara; Mandrile, Giorgia; Lauzon, Carolyn; Cordelli, Duccio Maria; Ivanovski, Ivan; Fetta, Anna; Sukarova, Elena; Brusco, Alfredo; Pavinato, Lisa; Pullano, Verdiana; Zollino, Marcella; McConkey, Haley; Tartaglia, Marco; Ferrero, Giovanni Battista; Sadikovic, Bekim; Garavelli, Livia (2024). Identification of the DNA methylation signature of Mowat-Wilson syndrome. European Journal of Human Genetics:Epub ahead of print.
• Gokce-Samar, Zeynep; Vetro, Annalisa; De Bellescize, Julitta; Pisano, Tiziana; Monteiro, Laloe; Penaud, Noémie; Korff, Christian M; Fluss, Joel; Marini, Carla; Cesaroni, Elisabetta; Alvarez, Blanca Mercedes; Sanlaville, Damien; Chatron, Nicolas; Arzimanoglou, Alexis A; Labalme, Audrey; Cuddapah, Vishnu A; Ruggiero, Sarah M; Lecoquierre, Francois; Nicolas, Gael; Marie, Guerrot Anne; Lebas, Axel; Testard, Herve O; Helbig, Katherine L; Ruiz, Anna; Ngoh, Adeline; Kurian, Manju A; Joset, Pascal; Ramantani, Georgia; Steindl, Katharina; et al (2024). Molecular and Phenotypic Characterization of the RORB-Related Disorder. Neurology, 102(2):e207945.