2024

ZORA Publication List

Publications

• De Hayr, Lachlan; Blok, Laura E R; Dias, Kerith-Rae M; Long, Jingyi; Begemann, Anaïs; Moir, Robyn D; Willis, Ian M; Mocera, Martina; Siegel, Gabriele; Steindl, Katharina; Evans, Carey-Anne; Zhu, Yinghao; Zhang, Futao; Field, Michael; Ma, Alan; Adès, Lesley C; Josephi-Taylor, Sarah; Pfundt, Rolph; Zaki, Maha S; Tomoum, Hoda; Gregor, Anne; Laube, Julia; Reis, André; Maddirevula, Sateesh; Hashem, Mais O; Zweier, Markus; Alkuraya, Fowzan S; Maroofian, Reza; Buckley, Michael F; Rauch, Anita; et al (2024). Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability. Genetics in Medicine:Epub ahead of print.
• Rauch, Anita; Reis, André (2024). Nachruf John M. Opitz, geboren in Hamburg am 15.08.1935, verstorben 31. Oktober 2023 in Salt Lake City, Utah, U. S. A. Medizinische Genetik, 36(4):275-276.
• Zeckanovic, Aida; Scheidegger, Nastassja; Prader, Seraina; Thanikkel, Leo; Elgizouli, Magdeldin; Bodmer, Nicole (2024). Pediatric Acute B‐Lymphoblastic Leukemia Presenting as Hypereosinophilia With Lung Involvement and Elevated Immunoglobulin E Levels. Pediatric Blood & Cancer:Epub ahead of print.
• Uguen, Kevin; Frey, Tanja; Muthaffar, Osama; Décarie, Jean-Claude; Ameziane, Najim; Boissel, Sarah; Baradaran-Heravi, Yalda; Rauch, Anita; Oprea, Gabriela; Rad, Aboulfazl; Steindl, Katharina; Michaud, Jacques L (2024). Loss of tissue-type plasminogen activator causes multiple developmental anomalies. Brain Communications, 6(6):fcae408.
• Noble, Alexandra R; Masek, Markus; Hofmann, Claudia; Cuoco, Arianna; Rusterholz, Tamara D S; Özkoc, Hayriye; Greter, Nadja R; Phelps, Ian G; Vladimirov, Nikita; Kollmorgen, Sepp; Stoeckli, Esther; Bachmann-Gagescu, Ruxandra (2024). Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system. Biology Open, 13(11):bio060421.
• Soomann, Maarja; Bily, Viktor; Elgizouli, Magdeldin; Kraemer, Dennis; Akgül, Gülfirde; von Bernuth, Horst; Bloomfield, Markéta; Brodszki, Nicholas; Candotti, Fabio; Förster-Waldl, Elisabeth; Freiberger, Tomas; Giżewska, Maria; Klocperk, Adam; Kölsch, Uwe; Nichols, Kim E; Krüger, Renate; Oak, Ninad; Pac, Małgorzata; Prader, Seraina; Schmiegelow, Kjeld; Šedivá, Anna; Sogkas, Georgios; Stittrich, Anna; Stoltze, Ulrik Kristoffer; Theodoropoulou, Katerina; Wadt, Karin; Wong, Melanie; Zeyda, Maximillian; Schmid, Jana Pachlopnik; Trück, Johannes (2024). Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia. Journal of Allergy and Clinical Immunology, 154(5):1313-1324.e7.
• 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.
• Djebar, Morgane; Anselme, Isabelle; Pezeron, Guillaume; Bardet, Pierre-Luc; Cantaut-Belarif, Yasmine; Eschstruth, Alexis; López-Santos, Diego; Le Ribeuz, Hélène; Jenett, Arnim; Khoury, Hanane; Véziers, Joelle; Parmentier, Caroline; Hirschler, Aurélie; Carapito, Christine; Bachmann-Gagescu, Ruxandra; Schneider-Maunoury, Sylvie; Vesque, Christine (2024). Astrogliosis and neuroinflammation underlie scoliosis upon cilia dysfunction. eLife, 13:RP96831.
• Blackburn, Patrick R; Ebstein, Frédéric; Hsieh, Tzung‐Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gérard, Bénédicte; Smol, Thomas; Vincent‐Delorme, Catherine; Cogné, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne‐Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S; Rosenfeld, Jill A; Faivre, Laurence; Mau‐Them, Frederic Tran; et al (2024). Loss‐of‐Function Variants in $CUL3$ Cause a Syndromic Neurodevelopmental Disorder. Annals of Neurology:Epub ahead of print.
• Wood, Katherine A; Tong, R Spencer; Motta, Marialetizia; Cordeddu, Viviana; Scimone, Eleanor R; Bush, Stephen J; Maxwell, Dale W; Giannoulatou, Eleni; Caputo, Viviana; Traversa, Alice; Mancini, Cecilia; Ferrero, Giovanni Battista; Benedicenti, Francesco; Grammatico, Paola; Melis, Daniela; Steindl, Katharina; Brunetti-Pierri, Nicola; Trevisson, Eva; Wilkie, Andrew OM; Lin, Angela E; Cormier-Daire, Valérie; Twigg, Stephen RF; Tartaglia, Marco; Goriely, Anne (2024). SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline. American Journal of Human Genetics, 111(9):1953-1969.
• Maggi, Jordi; Feil, Silke; Gloggnitzer, Jiradet; Maggi, Kevin; Bachmann-Gagescu, Ruxandra; Gerth-Kahlert, Christina; Koller, Samuel; Berger, Wolfgang (2024). Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes. International Journal of Molecular Sciences, 25(17):9569.
• Boonsawat, Paranchai; Asadollahi, Reza; Niedrist Baumann, 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; Rauch, Anita (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, 111(9):1994-2011.
• Clara-Hwang, Angela; Stefani, Stefani; Lau, Tracy; Scala, Marcello; Aynekin, Busra; Bernardo, Pia; Madia, Francesca; Bakhtadze, Sophia; Kaiyrzhanov, Rauan; Maroofian, Reza; Zara, Federico; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju; Guliyeva, Ulviyya; Montavont, Alexandra; Poulat, Anne-Lise; Güleç, Ayten; Berger, Colette; Ville, Dorothee M; de Bellescize, Julitta; Cabet, Sara; Wonneberger, Antje; Schulz, Alexander; Rodriguez-Palmero, Agusti; Chatron, Nicolas; Lesca, Gaetan; Per, Hüseyin; Goel, Himanshu; Brown, Janis; Frey, Tanja; Steindl, Katharina; Rauch, Anita; Severino, Mariasavina; Houlden, Henry; Nicolaides, Paola; Striano, Pasquale; Efthymiou, Stephanie (2024). Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy. Neurology Genetics, 10(4):e200168.
• Harel, Tamar; Spicher, Camille; Scheer, Elisabeth; Buchan, Jillian G; Cech, Jennifer; Folland, Chiara; Frey, Tanja; Holtz, Alexander M; Innes, A Micheil; Keren, Boris; Macken, William L; Marcelis, Carlo; Otten, Catherine E; Paolucci, Sarah A; Petit, Florence; Pfundt, Rolph; Pitceathly, Robert D S; Rauch, Anita; Ravenscroft, Gianina; Sanchev, Rani; Steindl, Katharina; Tammer, Femke; Tyndall, Amanda; Devys, Didier; Vincent, Stéphane D; Elpeleg, Orly; Tora, László (2024). De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features. Brain: a journal of neurology, 147(8):2732-2744.
• Dubach, Irina Léa. Unraveling Macrophage Polarization: Deciphering Heme Signaling Dynamics after Hemolysis for Precision Inflammation Modulation. 2024, University of Zurich, Mathematisch-naturwissenschaftliche Fakultät.
• Kraemer, Dennis; Terumalai, Dillenn; Famiglietti, Maria Livia; Filges, Isabel; Joset, Pascal; Koller, Samuel; Maurer, Fabienne; Meier, Stéphanie; Nouspikel, Thierry; Sanz, Javier; Zweier, Christiane; Abramowicz, Marc; Berger, Wolfgang; Cichon, Sven; Schaller, André; Superti-Furga, Andrea; Barbié, Valérie; Rauch, Anita (2024). SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland. Journal of Personalized Medicine, 14(6):648.
• Maggi, Jordi; Koller, Samuel; Feil, Silke; Bachmann-Gagescu, Ruxandra; Gerth-Kahlert, Christina; Berger, Wolfgang (2024). Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort. International Journal of Molecular Sciences, 25(6540):6540.
• no authors listed (2024). Zürich: Prof. Dr. med. Ruxandra Bachmann-Gagescu zur ausserordentlichen Professorin für Entwicklungsgenetik ernannt. Medizinische Genetik, 36(2):133.
• 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, 111(6):1184-1205.
• 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.

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