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Stalder, P; Serdiuk, T; Ghosh, D; Fleischmann, Y; Malinovska, L; Davranche, A; Haenseler, Walther; Boudou, C ; Tsika, E; Ouared, A; Stöhr, J; Melki, R; Riek, R; de Souza, N; Picotti P. (2023).An approach to characterize mechanisms of action of anti-amyloidogenic compounds in vitro and in situ
DOI: 10.1101/2023.12.18.572111, medRxiv 572111, University of Zurich. 2023 Dec 18. Working Paper
Hülsmeier, Andreas J; Toelle, Sandra P; Bellstedt, Peter; Wentzel, Christian; Bahr, Angela; Kolokotronis, Konstantinos; Hornemann, Thorsten (2023). The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy. PMID: 37890668, DOI: 10.1016/j.jlr.2023.100464, Journal of Lipid Research, 64(12):100464.
Marija Buljan , Amir Banaei-Esfahani , Peter Blattmann, Fabienne Meier-Abt, Wenguang Shao, lga Vitek, Hua Tang, Ruedi Aebersold (2023). A computational framework for the inference of protein complex remodeling from whole-proteome measurements.
PMID: 37749212, DOI: 10.1038/s41592-023-02011-w, Nat Methods. 2023 Sep 25. Online ahead of print.
Zjacic, Nicolina (2023).
Exploring endometriosis: a surprisingly common disease, DOI: 10.5167/uzh-237007, Facts and Reasons , 2023 September, Scientific Publication in Electronic Form
Francesca Peluso, Stefano G. Caraffi, Gianluca Contrò, Lara Valeri, Manuela Napoli, Giorgia Carboni, Alka Seth, Roberta Zuntini, Emanuele Coccia, Guja Astrea, Anne-Marie Bisgaard, Ivan Ivanovski, Silvia Maitz, Elise Brischoux-Boucher, Melissa T. Carter, Maria Lisa Dentici, Koenraad Devriendt, Melissa Bellini, Maria Cristina Digilio, Asif Doja, David A Dyment, Stense Farholt, Carlos R. Ferreira, Lynne A Wolfe, William A Gahl, Maria Gnazzo, Himanshu Goel, Sabine Weller Grønborg, Trine Hammer, Lorenzo Iughetti, Tjitske Kleefstra, David A. Koolen, Francesca Romana Lepri, Gabrielle Lemire, Pedro Louro, Gary McCullagh, Simona F. Madeo, Annarita Milone, Roberta Milone, Jens Erik Klint Nielsen, Antonio Novelli, Charlotte W. Ockeloen, Rosario Pascarella, Tommaso Pippucci, Ivana Ricca, Stephen P. Robertson, Sarah Sawyer, Marie Falkenberg Smeland, Sander Stegmann, Constanze T. Stumpel, Amy Goel, Juliet M. Taylor, Domenico Barbuti, Annarosa Soresina, Maria Francesca Bedeschi, Roberta Battini, Anna Cavalli, Carlo Fusco, Maria Iascone, Lionel Van Maldergem, Sunita Venkateswaran, Orsetta Zuffardi, Samantha Vergano, Livia Garavelli, Allan Bayat (2023). Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature PMID: 37586838, DOI: 10.1136/jmg-2023-109141, J Med Genet, 2023 Aug 16. Epub ahead of print.
Nikolai Kiselev, Tanja Frey, Annika Naesbom, Reto Planzer & Andreas Meyer-Heim (2023).
Perspectives of Swiss Paediatric Health Care Professionals on Factors Influencing Physical Activity Participation in Children with Disabilities
DOI: 10.1080/17518423.2023.2242483, Developmental Neurorehabilitation, Aug 13. Published online
Belosevic, Adrian; Minder, Anna-Elisabeth; Gueuning, Morgan; van Breemen, Franziska; Thun, Gian Andri; Mattle-Greminger, Maja Patricia; Meyer, Stefan; Baumer Wolz, Alessandra; Minder, Elisabeth I; Schneider-Yin, Xiaoye; Barman-Aksözen, Jasmin (2023). First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria. PMID: 37763293, PMCID: PMC10533070; DOI: 10.3390/life13091889 Life, 13(1889):1-11, 2023, September 10.
Alexander J. M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, Janneke Schuurs-Hoeijmakers, Rolph Pfundt, Illja J. Diets, Joery den Hoed, Elke de Boer, Jet Coenen-van der Spek, Sandra Jansen, Bregje W. van Bon, Noraly Jonis, Charlotte W. Ockeloen, Anneke T. Vulto-van Silfhout, Tjitske Kleefstra, David A. Koolen, Philippe M. Campeau, Elizabeth E. Palmer, Hilde Van Esch, Gholson J. Lyon, Fowzan S. Alkuraya, Anita Rauch, Ronit Marom, Diana Baralle, Pleuntje J. van der Sluijs, Gijs W. E. Santen, R. Frank Kooy, Marcel A. J. van Gerven, Lisenka E. L. M. Vissers & Bert B. A. de Vries (2023). PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
PMID: 37550531 , DOI: 10.1038/s41588-023-01469-wNat Genet. 2023 Aug 7. Epub ahead of print.
Elisabeth Bosch, Bernt Popp, Esther Güse, Cindy Skinner, Pleuntje J. van der Sluijs, Isabelle Maystadt, Anna Maria Pinto, Alessandra Renieri, Lucia Pia Bruno, Stefania Granata, Carlo Marcelis, Özlem Baysal, Dewi Hartwich, Laura Holthöfer, Bertrand Isidor, Benjamin Cogne, Dagmar Wieczorek, Valeria Capra, Marcello Scala, Patrizia De Marco, Marzia Ognibene, Rami Abou Jamra, Konrad Platzer, Lauren B. Carter, Outi Kuismin, Arie van Haeringen, Reza Maroofian, Irene Valenzuela, Ivon Cuscó, Julian A. Martinez-Agosto, Ahna M. Rabani, Heather C. Mefford, Elaine M. Pereira, Charlotte Close, Kwame Anyane-Yeboa, Mallory Wagner, Mark C. Hannibal, Pia Zacher, Isabelle Thiffault, Gea Beunders, Muhammad Umair, Priya T. Bhola, Erin McGinnis, John Millichap, Jiddeke M. van de Kamp, Eloise J. Prijoles, Amy Dobson, Amelle Shillington, Brett H. Graham, Evan-Jacob Garcia, Maureen Kelly Galindo, Fabienne G. Ropers, Esther AR. Nibbeling, Gail Hubbard, Catherine Karimov, Guido Goj, Renee Bend, Julie Rath, Michelle M. Morrow, Francisca Millan, Vincenzo Salpietro, Annalaura Torella, Vincenzo Nigro, Mitja Kurki, Roger E. Stevenson, Gijs W.E. Santen, Markus Zweier, Philippe M. Campeau, Mariasavina Severino, André Reis, Andrea Accogli, Georgia Vasileiou (2023). Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individualsPMID: 37551667, doi: 10.1016/j.gim.2023.100950 Genet Med. 2023 Aug 4:100950. Online ahead of print.
Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah Ehsan Ghayoor Karimiani, Stephanie Efthymiou, Gözde Yeşil, Shahryar Alavi, Aisha M Al Shamsi, Homa Tajsharghi, Mohamed S Abdel-Hamid, Nebal Waill Saadi, Fuad Al Mutairi, Lama Alabdi, Christian Beetz, Zafar Ali, Mehran Beiraghi Toosi, Sabine Rudnik-Schöneborn, Meisam Babaei, Pirjo Isohanni, Jameel Muhammad, Khan Sheraz, Maha Al Shalan, Scott E Hickey, Daphna Marom, Emil Elhanan, Manju A Kurian, Dana Marafi, Alihossein Saberi, Mohammad Hamid, Robert Spaull, Linyan Meng, Seema Lalani, Shazia Maqbool, Fatima Rahman, Jürgen Seeger, Timothy Blake Palculict, Tracy Lau, David Murphy, Niccolo Emanuele Mencacci, Katharina Steindl, Anais Begemann, Anita Rauch, Sinan Akbas, Aslanger Ayça Dilruba, Vincenzo Salpietro, Hammad Yousaf, Shay Ben-Shachar, Katarina Ejeskär, Aida I Al Aqeel, Frances A High, Amy E Armstrong-Javors, Seyed Mohammadsaleh Zahraei, Tahereh Seifi, Jawaher Zeighami, Gholamreza Shariati, Alireza Sedaghat, Samaneh Noroozi Asl, Mohmmad Shahrooei, Giovanni Zifarelli, Lydie Burglen, Claudia Ravelli, Johannes Zschocke, Ulrich A Schatz, Maryam Ghavideldarestani, Walaa A Kamel, Hilde Van Esch, Annette Hackenberg, Jenny C Taylor, Lihadh Al-Gazali, Peter Bauer, Joseph J Gleeson, Fowzan Sami Alkuraya, James R Lupski, Hamid Galehdari, Reza Azizimalamiri, Wendy K Chung, Shahid Mahmood Baig, Henry Houlden, Mariasavina Severino (2023).Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. PMID: 37517035, DOI: 10.1093/brain/awad257 Brain, 2023;, awad257. Online ahead of print.
Alves, Victoria Cunha; Figueiro-Silva, Joana; Ferrer, Isidre; Carro, Eva (2023). Epigenetic silencing of OR and TAS2R genes expression in human orbitofrontal cortex at early stages of sporadic Alzheimer’s disease. PMID: 37405535, PMCID: PMC10322771, DOI: 10.1007/s00018-023-04845-1 Cellular and Molecular Life Sciences, 80(8):196.
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 (2023). Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder. medRxiv 23290941, University of Zurich.
Zjacic, Nicolina (2023).
Corrections and retractions in academia. , DOI: 10.5167/uzh-237008, Facts and Reasons, 2023 September, Scientific Publication in Electronic Form
Frey, Tanja; Ivanovski, Ivan; Bahr, Angela; Zweier, Markus; Laube, Julia; Luchsinger, Isabelle; Steindl, Katharina; Rauch, Anita (2023). A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome. American Journal of Medical Genetics. Part A:Epub ahead of print.
Grether, Anna; Ivanovski, Ivan; Russo, Martina; Begemann, Anaïs; Steindl, Katharina; Abela, Lucia; Papik, Michael; Zweier, Markus; Oneda, Beatrice; Joset, Pascal; Rauch, Anita (2023). The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies. Molecular Genetics & Genomic Medicine, 11(5):e2148.
Zanoni, Paolo; Steindl, Katharina; Sticht, Heinrich; Oneda, Beatrice; Joset, Pascal; Ivanovski, Ivan; Horn, Anselm H C; Cabello, Elena María; Laube, Julia; Zweier, Markus; Baumer, Alessandra; Rauch, Anita; Khan, Nadia (2023). The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort. European Journal of Human Genetics:Epub ahead of print.
Asadollahi, Reza; Delvendahl, Igor; Muff, Rebecca; Tan, Ge; Rodríguez, Daymé González; Turan, Soeren; Russo, Martina; Oneda, Beatrice; Joset, Pascal; Boonsawat, Paranchai; Masood, Rahim; Mocera, Martina; Ivanovski, Ivan; Baumer Wolz, Alessandra; Bachmann-Gagescu, Ruxandra; Schlapbach, Ralph; Rehrauer, Hubert; Steindl, Katharina; Begemann, Anaïs; Reis, André; Winkler, Jürgen; Winner, Beate; Müller, Martin; Rauch, Anita (2023). Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons. Human Molecular Genetics:Epub ahead of print.
Lecca, Mauro; Pehlivan, Davut; Suñer, Damià Heine; Weiss, Karin; Coste, Thibault; Zweier, Markus; Oktay, Yavuz; Danial-Farran, Nada; Rosti, Vittorio; Bonasoni, Maria Paola; Malara, Alessandro; Contrò, Gianluca; Zuntini, Roberta; Pollazzon, Marzia; Pascarella, Rosario; Neri, Alberto; Fusco, Carlo; Marafi, Dana; Mitani, Tadahiro; Posey, Jennifer Ellen; Bayramoglu, Sadik Etka; Gezdirici, Alper; Hernandez-Rodriguez, Jessica; Cladera, Emilia Amengual; Miravet, Elena; Roldan-Busto, Jorge; Ruiz, María Angeles; Bauzá, Cristofol Vives; Ben-Sira, Liat; Sigaudy, Sabine; Begemann, Anaïs; Rauch, Anita; et al (2023). Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. American Journal of Human Genetics, 110(4):681-690.
Carrero, Laura; Antequera, Desireé; Alcalde, Ignacio; Megías, Diego; Figueiro-Silva, Joana; Merayo-Lloves, Jesús; Municio, Cristins; Carro, Eva (2023). Disturbed circadian rhythm and retinal degeneration in a mouse model of Alzheimer’s disease. Acta Neuropathologica Communications, 11(1):55.
Sheppard, Sarah E; Bryant, Laura; Wickramasekara, Rochelle N; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Simon, M Celeste; de la Cruz, Xavier; Padilla, Natália; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Da Silva, Renata Pellegrino; Li, Dong; March, Michael; Diaz-Rosado, Abdias; de Barcelos, Isabella Peixoto; Choa, Zhao Xiang; Lim, Chin Yan; Dubourg, Christèle; Journel, Hubert; Demurger, Florence; Mulhern, Maureen; Akman, Cigdem; Lippa, Natalie; Joset, Pascal; Steindl, Katharina; Rauch, Anita; et al (2023). Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances, 9(10):eade1463.
Zjacic, Nicolina (2023). How much of our brain do we really use? , DOI: 10.5167/uzh-231676, Facts and Reasons, 2023 February, Scientific Publication in Electronic Form
Holfeld, Aleš; Schuster, Dina; Sesterhenn, Fabian; Stalder, Patrick; Haenseler, Walther; Barrio-Hernandez, Inigo; Ghosh, Dhiman; Vowles, Jane; Cowley, Sally A; Nagel, Luise; Khanppnavar, Basavraj; Beltrao, Pedro; Korkhov, Volodymyr M; Riek, Roland; Souza, Natalie de; Picotti, Paola (2023). Systematic identification of structure-specific protein–protein interactions. arXiv.org 522707, University of Zurich.
Hiatt, Susan M; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E Christopher; et al; Bachmann-Gagescu, Ruxandra; Rauch, Anita (2023). Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. American Journal of Human Genetics, 110(2):215-227.
Konrat, Judith; Rösler, Wiebke; Roiss, Michael; Meier-Abt, Fabienne; Widmer, Corinne C; Balabanov, Stefan; Manz, Markus G; Zenz, Thorsten (2023). BRAF inhibitor treatment of classical hairy cell leukemia allows successful vaccination against SARS-CoV-2. Annals of Hematology, 102(2):403-406.
Steffensen, Ellen Hollands; Skakkebæk, Anne; Gadsbøll, Kasper; Petersen, Olav Bjørn; Westover, Thomas; Strange, Heather; NIPT-SCA-map Study Group; Vogel, Ida; et al; Rauch, Anita (2023). Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA: A survey study. Prenatal Diagnosis, 43(2):144-155.
Snijders Blok, Lot; Verseput, Jolijn; Rots, Dmitrijs; et al; Steindl, Katharina; Rauch, Anita (2023). A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. Human Genetics and Genomics Advances, 4(1):100157.
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 (2023). SwissGenVar: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland. medRxiv 22283790, University of Zurich.
Masek, Markus; Bachmann-Gagescu, Ruxandra (2023).
Control of protein and lipid composition of photoreceptor outer segments—Implications for retinal disease.
DOI: 10.1016/bs.ctdb.2023.09.001. PMID: 38043951. In: Iomini, Carlo; Sun, Yang. Cilia Signaling in Development and Disease (1. Auflage). Amsterdam: Elsevier, 165-225.
Cali, Elisa; Suri, Mohnish; Scala, Marcello; et al; Steindl, Katharina; Herenger, Yvan; Rauch, Anita (2023). Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Genetics in Medicine, 25(1):135-142.
Rieger, Melissa; Moutton, Sébastien; Verheyen, Sarah; Steindl, Katharina; Popp, Bernt; Leheup, Bruno; Bonnet, Céline; Oneda, Beatrice; Rauch, Anita; Reis, André; Krumbiegel, Mandy; Hüffmeier, Ulrike (2023). Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay. European Journal of Medical Genetics, 66(1):104669.
Masek, Markus; Zang, Jingjing; Mateos, José María; Garbelli, Marco; Ziegler, Urs; Neuhauss, Stephan C F; Bachmann-Gagescu, Ruxandra (2023). Studying the morphology, composition and function of the photoreceptor primary cilium in zebrafish. Methods in Cell Biology, 175:97-128.
