Textdatei mit allen Artikeln

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.

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. 
PMID: 39400299, DOI: 10.1242/bio.060421, S2CID: 267740876. Biology Open, bio(060421):1-79. 2024, Oct. 14. Online ahead of Print.

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. 
PMID: 39388365, DOI: 10.7554/elife.96831, S2CID: 268030550. eLife, 13(RP96831):1-35

Saeed, Azza; Ahmed, Lamees; Abuswar, Safa; Salih, Mudathir; Hussein, Ayman;  Eltigani, Amel; Elgizouli, Magdeldin; E.Ibrahim, Muntaser (2024).
Hierarchical Genomic Analysis of Susceptibility to Schizophrenia in Sudanese multi-case families.
DOI: 10.12688/f1000research.154747.1,  S2CID: 273037003, F1000Research 2024, 13:1110. 2024, Oct. 01. Preprint.

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; Gerard, 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; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B.;  Madden, Jill A.; Goldenberg, Alice; Lecoquierre, François; Zech, Michael; Prokisch, Holger; Necpál, Ján; Jech, Robert; Winkelmann, Juliane; Koprušáková, Monika Turčanová; Konstantopoulou, Vassiliki; Younce, John R.; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F.; Lerner‐Ellis, Jordan; DiTroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P.A.; van der Schoot, Vyne; Brunet, Theresa; Bußmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B.; Mayr, Johannes A.; Feichtinger, René G.; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N.; Klee, Eric W.; Grand, Katheryn; Sanchez‐Lara, Pedro A.; Krüger, Elke; Bézieau, Stéphane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E.; Tartaglia, Marco; Küry, Sébastien; Wang, Tianyun (2024).
Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
PMID: 39301775, DOI: 10.1002/ana.27077, S2CID: 259171704, Annals of Neurology:1-14. 2024, Sep. 20.

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.
PMID:39116879, DOI: 10.1016/j.ajhg.2024.07.006, S2CID: 271783115, American Journal of Human Genetics, 111:1-17. 2024, Sep. 05.

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 IgE levels; a case report.
DOI: 10.22541/au.172544051.14879496/v1, Authorea; (1-6). University of Zurich. 2024, Sep. 04. Preprint.

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.
PMID: TBA, DOI: 10.3390/ijms25179569, S2CID: 272394634, International Journal of Molecular Sciences, 25(17):9569. 2024, Sep. 03.

Boonsawat, Paranchai; Asadollahi, Reza; Niedrist, 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.
PMID:39168120, DOI: 10.1016/j.ajhg.2024.07.016, S2CID: 271919931 , American Journal of Human Genetics, 111(9):1994-2011. 2024, Sep. 01. 

Krischer, Benedict; Bahr, Angela; Ivanovski, Ivan; Kraemer, Dennis; Kapfhammer, Elisabeth; Hodel, Markus; Rauch, Anita (2024).
EP18.30: Enlarged yolk sac as a potential new phenotype of RAF1 Noonan syndrome. 
DOI: 10.1002/uog.28766, S2CID: 272589289. Ultrasound in Obstetrics & Gynecology, 64(S1):290-291. 2024, Sep. 01. Abstract.

Olga Bürger, Angelika Humbel, Ivan Ivanovski, Alessandra Baumer, Anita Rauch (2024).
Further evidence for an attenuated phenotype of in‐frame DMD deletions affecting the central rod domain of dystrophin around exon 48.
PMID:39158144, DOI: 10.1002/ajmg.a.63842, S2CID: 71896500, American Journal of Human Genetics, Part A, (e63842):1-6. 2024, Aug. 19. Epub ahead of print.

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. 
PMID:39147326, DOI: 10.1016/j.jaci.2024.08.002, S2CID: 271879353, Journal of Allergy and Clinical Immunology. 2024, Aug. 13. Epub ahead of print.

Dubach, Irina Léa (2024).
Unraveling Macrophage Polarization: Deciphering Heme Signaling Dynamics after Hemolysis for Precision Inflammation Modulation.
DOI: 10.5167/uzh-261319, Dissertation, 2024, University of Zurich, Faculty of Medicine. 2024, Jul. 25.

Mozun, Rebeca; Belle, Fabiën N.;  Agostini, Andrea; Baumgartner, Matthias R.; Fellay, Jacques; Forrest, Christopher B.; Froese, D. Sean; Giannoni, Eric; Goetze, Sandra; Hofmann, Katrin; Latzin, Philipp; Lauener, Roger; Martin Necker, Aurélie; Ormond, Kelly E.; Pachlopnik Schmid, Jana; Pedrioli, Patrick G. A.; Posfay-Barbe, Klara M.; Rauch, Anita; Schulzke, Sven; Stocker, Martin; Spycher, Ben D.; Vayena, Effy; Welzel, Tatjana; Zamboni, Nicola; Vogt, Julia E.;  Schlapbach, Luregn J.; Bielicki, Julia A.; Kuehni, Claudia E.; SwissPedHealth Consortium (2024).
Paediatric Personalized Research Network Switzerland (SwissPedHealth): A Joint Paediatric National Data Stream.
DOI: 10.1101/2024.07.24.24310922, S2CID: 271400461, medRxiv 2024.07.24.24310922, University of Zurich. 2024, Jul. 24. Preprint.

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, Jul. 17.

Yusifov, Elkhan; Schaettin, Martina; Dumoulin, Alexandre; Stoeckli, Esther; Bachmann-Gagescu, Ruxandra (2024).
The Primary Cilium Gene Cplane1 is Required for Peripheral Nervous System Development.
DOI:10.2139/ssrn.4884039, SSRN; 488038:(1-38). University of Zurich. 2024 Jul. 03. Preprint.

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, Jun. 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.

no authors listed (2024).
Zürich: Prof. Dr. med. Ruxandra Bachmann-Gagescu zur ausserordentlichen Professorin für Entwicklungsgenetik ernannt. 
PMID: 38854652, PMCID: PMC11154177 (available on 2025-06-06) , DOI: 10.1515/medgen-2024-2015, Medizinische Genetik; 36(2):133. 2024, Jun. 5.

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 (2024).
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.