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Alves, Victoria Cunha; Carro, Eva; Figueiro-Silva, Joana (2024).
Unveiling DNA methylation in Alzheimer’s disease: a review of array-based human brain studies.
DOI: 10.4103/1673-5374.393106, S2CID: 266907319, Neural Regeneration Research, 19(11):2365-2376. 2024, Nov.
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.
DOI: 10.1212/nxg.0000000000200168, S2CID: 271173509, Neurology Genetics, 10(4):e200168. 2024, July 17.
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.
PMID:38929869, PMCID: PMC11204794, DOI: 10.3390/jpm14060648, S2CID: 255592044, Journal of Personalized Medicine, 14 (6)(648):1-15. 2024, June 17.
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
PMID: 38928247, S2CID: 270544549, DOI: 10.3390/ijms25126540, International Journal of Molecular Sciences, 25(12):6540. 2024, Jun 13.
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.
PMID: 38697389, DOI: 10.1016/j.ejmg.2024.104945, S2CID: 269487510, European Journal of Medical Genetics, 69:104945. 2024, Jun 1.
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.
PMID: 38169111, DOI: 10.1002/ajmg.a.63528, S2CID: 266753300, American Journal of Medical Genetics Part A, 194(6):e63528. 2024, Jun 1.
Bassani, Sissy; Chrast, Jacqueline; Ambrosini, Giovanna; Voisin, Norine; Schütz, Frédéric; Brusco, Alfredo; Sirchia, Fabio; Turban, Lydia; Schubert, Susanna; Abou Jamra, Rami; Schlump, Jan-Ulrich; DeMille, Desiree; Bayrak-Toydemir, Pinar; Nelson, Gary Rex; Wong, Kristen Nicole; Duncan, Laura; Mosera, Mackenzie; Gilissen, Christian; Vissers, Lisenka E. L. M.; Pfundt, Rolph; Kersseboom, Rogier; Yttervik, Hilde; Hansen, Geir Åsmund Myge; Smeland Falkenberg, Marie; Butler, Kameryn M.; Lyons, Michael J.; Carvalho, Claudia M. B.; Zhang, Chaofan; Lupski, James R.; Potocki, Lorraine; Flores-Gallegos, Leticia; Morales-Toquero, Rodrigo; Petit, Florence; Yalcin, Binnaz; Tuttle, Annabelle; Elloumi, Houda Zghal; McCormick, Lane; Kukolich, Mary; Klaas, Oliver; Horvath, Judit; Scala, Marcello; Iacomino, Michele; Operto, Francesca; Zara, Federico; Writzl, Karin; Maver, Aleš; Haanpää, Maria K.; Pohjola, Pia; Arikka, Harri; Kievit, Anneke J. A.; Calandrini, Camilla; Iseli, Christian; Guex, Nicolas; Reymond, Alexandre (2024).
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
PMID: 38811945, PMCID: PMC11137988, DOI: 10.1186/s13073-024-01339-y, S2CID: 270122121, Genome Medicine, 16(72):1-18. 2024, May 30.
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.
PMID: 38753057, DOI: 10.1093/brain/awae160, S2CID: 269790293, Brain: a journal of neurology, awae160:1-32. 2024, May 16.
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.
DOI: 10.7554/elife.96831.1, S2CID: 268030550, eLife: 13:RP96831. Epub ahead of print. 2024, May 14
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.
PMID: 38744284, DOI: 10.1016/j.ajhg.2024.04.014, S2CID: 269770731, American Journal of Human Genetics, S0002-9297(24)00129-0. Epub ahead of print. 2024 May 13.
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.
PMID: 38702390, DOI: 10.1038/s44320-024-00037-6, S2CID: 256617477, Molecular Systems Biology:Epub ahead of print. 2024 May 3.
Yde Ohki, Cristine Marie.
Involvement of the Wnt Signaling in Methylphenidate (Ritalin) Treatment of ADHD.
DOI: 10.5167/uzh-259346, Dissertation, 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.
DOI: 10.3390/genes15030385, S2CID: 268621629, Genes, 15(3):385. 2024 Mar. 21.
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; Gonzalez, Joanna Michelle; Pini, Antonella; Schädlich, Ines Sophie; Vill, Katharina; Brugger, Melanie; Zuchner, Stephan; Pinto, Andreia; Donkervoort, Sandra; Bivona, Stephanie Ann; Riza, Anca; Undiagnosed Diseases Network, Streata, Ioana; Gläser, Dieter; Baquero-Montoya, Carolina; Garcia-Restrepo, Natalia; Kotzaeridou,Urania; Brunet, Theresa; Epure, Diana Anamaria; Bertoli-Avella, Aida; Kariminejad, Ariana; Tekin, Mustafa; von Hardenberg, Sandra; Bönnemann, Carsten G.; M. Stettner, Georg; Zanni, Ginevra; Kayserili, Hülya; Oflazer, Zehra Piraye & Escande-Beillard, Nathalie (2024).
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
PMID: 38413582, PMCID: PMC10899626, DOI: 10.1038/s41467-024-45933-5, S2CID: 268039113, Nature Communications 15, 1758. 2024 Feb. 27.
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.
DOI: 10.1101/2024.02.22.581530, S2CID: 268030550, medRxiv 581530, University of Zurich. 2024 Feb. 22. Working Paper/Preprint
Cabello Ferrete, Elena María.
Utilizing Genetic Linkage and Rare Variant Association Studies to Unravel Novel Disease Etiologies.
DOI: 10.5167/uzh-257321, Dissertation, 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.
DOI: 10.57187/s.3485, PMID: 38579306, S2ID: 67708940, Swiss Medical Weekly, 154(2):3485. 2024 Feb. 15.
Noble, Alexandra R.; Masek, Markus; Hofmann, Claudia; Cuoco, Arianna; Rusterholz, Tamara D. S.; Özkoc, Hayriye; Greter, Nadja R.; 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
DOI: 10.1101/2024.02.15.580456, S2CID: TBA , medRxiv 580456, University of Zurich. 2024 Feb. 15. Working Paper/Preprint
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.
PMID: 38351292, DOI: 10.1038/s41431-024-01548-4, S2CID: 267655720, European Journal of Human Genetics:1-11. 2024 Feb. 13.
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; Reid, Kimberley; Spaull, Robert; Joset, Pascal; Ramantani, Georgia; Steindl, Katharina; Krenn, Martin; Gerstl, Lucia; Vieker, Silvia; Craiu, Dana; Pendziwiat, Manuela; Haldeman-Englert, Chad; Kanivets, Ilya; Romanova, Irina; Rajan, Deepa S.; Rosenfeld, Jill A.; Au, Margaret; Grand, Katheryn; Graham Jr., John M.; Isapof, Arnaud; Villeneuve, Nathalie; Smol, Thomas; Caumes, Roseline; Zacher, Pia; Neuser, Sonja; Tinschert, Sigrid; Platzer, Konrad; Bartolomaeus, Tobias; Mohnke, Ines; Radtke, Maximilian; Jamra, Rami Abou; Helbig, Ingo; Jansen, Floortje E.; Koop, Klaas; Rudolf, Gabrielle; Küry, Sebastien; Courchet, Julien; Guerrini, Renzo; Lesca, Gaetan (2024).
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
PMID: 38165337 DOI: 10.1212/wnl.0000000000207945, S2CID: 266515085, Neurology, 102(2):1-20. 2024 Jan. 23.
Kury, Sebastien; Stanton, Janelle E; van Woerden, Geeske M; Hsieh, Tzung-Chien; Rosenfelt, Cory; Pier Scott-Boyer, Marie; Most, Victoria; Wang, Tianyun; Papendorf, Jonas Johannes; de Konink, Charlotte; Deb, Wallid; Vignard, Virginie; Studencka-Turski, Maja; Besnard, Thomas; Hajdukowicz, Anna Marta; Thiel, Franziska; Moller, Sophie; Florenceau, Laetitia; Cuinat, Silvestre; Marsac, Sylvain; Wentzensen, Ingrid; Tuttle, Annabelle; Forster, Cara; Striesow, Johanna; Golnik, Richard; Ortiz, Damara; Jenkins, Laura; Rosenfeld, Jill A; Ziegler, Alban; Houdayer, Clara; Bonneau,Dominique; Begtrup, Amber; Monaghan, Kristin G.; Mullegama, Sureni V.; Volker-Touw, C.M.L. (Nienke); van Gassen, Koen L.I.; Oegema, Renske; de Pagter, Mirjam; Steindl, Katharina; Ivanovski, Ivan; Rauch, Anita, McDonald, Kimberly; Boothe, Emily; Dauber, Andrew; Baker, Janice; Fabie, Noelle Andrea V; Bernier, Raphael A.; Turner, Tychele N.; Srivastava, Siddharth; Dies, Kira A.; Swanson, Lindsay; Costin, Carrie; Jobling, Rebekah K.; Pappas, John; Rabin, Rachel; Niyazov, Dmitriy; Chun-Hui Tsai, Anne; Kovak, Karen; Beck, David B.; Malicdan, MCV; Adams, David R.; Wolfe, Lynne; Ganetzky, Rebecca D.; Muraresku, Colleen; Babikyan, Davit; Sedláček, Zdeněk; Hančárová, Miroslava; Timberlake, Andrew T.; Al Saif, Hind; Nestler, Berkley; King, Kayla; Hajianpour, MJ; Costain, Gregory; Prendergast, D’Arcy; Li, Chumei; Geneviève, David; Vitobello, Antonio; Sorlin, Arthur; Philippe, Christophe; Harel, Tamar; Toker, Ori; Sabir, Ataf; Lim, Derek; Hamilton, Mark; Bryson, Lisa; Cleary, Elaine; Weber, Sacha; Hoffman, Trevor L.; Cueto-González, Anna Maria; Fidel Tizzano, Eduardo; Gómez-Andrés, David; Codina-Solà, Marta; Ververi, Athina; Pavlidou, Efterpi; Lambropoulos, Alexandros; Garganis, Kyriakos; Rio, Marlène; Levy, Jonathan; Jurgensmeyer, Sarah; McRae, Anne M.; Kent Lessard, Mathieu; D’Agostino, Maria Daniela; De Bie, Isabelle; Wegler, Meret; Jamra, Rami Abou; Kamphausen, Susanne B.; Bothe, Viktoria; Busch, Larissa M.; Völker, Uwe; Hammer, Elke; Wende, Kristian; Cogné, Benjamin; Isidor, Bertrand; Meiler, Jens; Bosc-Rosati, Amélie; Marcoux, Julien; Bousquet, Marie-Pierre; Poschmann, Jeremie; Laumonnier, Frédéric; Hildebrand, Peter W.; Eichler, Evan E.; McWalter, Kirsty; Krawitz, Peter M.; Droit, Arnaud; Elgersma, Ype; Grabrucker, Andreas M.; Bolduc, Francois V.; Bézieau, Stéphane; Ebstein, Frédéric; Krüger, Elke (2024).
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.PMID: 38293138, DOI: 10.1101/2024.01.13.24301174, S2CID: 266996527, medRxiv 24301174, University of Zurich. 2024 Jan 16. Preprint.
