Textdatei mit allen Artikeln

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; Gleeson, Joseph G; Zweier, Christiane; Coll-Tané, Mireia; Koolen, David A; Rauch, Anita; Roscioli, Tony; Schenck, Annette; Harvey, Robert J (2024).
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability. 
PMID: 39636576, DOI: 10.1093/braincomms/fcae408, S2CID: 274526461. Genetics in Medicine, (101253):1-17. 2024, Dec. 05.

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. 
PMID: 39629460, PMC 11610435, DOI: 10.1515/medgen-2024-2055, S2CID: 274451273. Medizinische Genetik, 36(4):275-276. 2024, Nov. 29.

Zeckanovic, Aida; Scheidegger, Nastassja K; 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.
PMID: 39558856, DOI: 10.1002/pbc.31461, S2CID: 274139788. Pediatric Blood & Cancer, e31461. 2024, Nov. 19. 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. 
DOI: 10.1093/braincomms/fcae408, S2CID: 274124366. Brain Communications, fcae408:1-20. 2024, Nov. 16. Epub ahead of print.

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, 13(11):bio060421. 2024, Nov. 12. 

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. 1.

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, 154(5):1313-1324.e7. 2024, Nov. 1.

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. 2024, Oct. 10.

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.

Cheerie, David; Meserve, Margaret; Beijer, Danique; Kaiwar, Charu; Newton, Logan; Tavares, Ana Lisa Taylor; Verran, Aubrie Soucy; Sherrill, Emma; Leonard, Stefanie; Sanders, Stephan J.; Blake, Emily; Elkhateeb, Nour; Gandhi, Aastha; Liang, Nicole S. Y.; Morgan, Jack T.; Verwillow, Anna; Verheijen, Jan; Giles, Andrew; Williams, Sean; Chopra, Maya; Croft, Laura; Dafsari, Hormos Salimi; Davidson, Alice E.; Friedman, Jennifer; Gregor, Anne; Haque, Bushra; Lechner, Rosan; Montgomery, Kylie-Ann; Ryten, Mina; Schober, Emil; Siegel, Gabriele; Sullivan, Patricia; Zardetto, Bianca; Yu, Timothy; Synofzik, Matthis; Aartsma-Rus, Annemieke; Costain, Gregory; Lauffer, Marlen C. (2024).
Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments.
DOI: 10.1101/2024.09.27.24314122, S2CID: 272927764, medRxiv, 24314122, University of Zurich. 2024, Sep. 27. 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. 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.
PMID:39116879, DOI: 10.1016/j.ajhg.2024.07.006, S2CID: 271783115, American Journal of Human Genetics, 111(9):1953-1969. 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.

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, 147(8):2732-2744. 2024, Aug. 1.

Bürger, Olga; Humbel, Angelika; Ivanovski, Ivan; Baumer, Alessandra; Rauch, Anita (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.

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, Aug. 1.

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 Science. 2024, Jul. 25.

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. 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(6540):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.

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, 32(6):619-629. 2024, Jun. 1.

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, 111(6):1184-1205. 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):72. 2024, May 30.

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. 2024, May 14. 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.
PMID: 38702390, DOI: 10.1038/s44320-024-00037-6, S2CID: 256617477, Molecular Systems Biology, 20(6):651-675. 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. 2024, Apr. 24.

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):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 (2024).
Utilizing Genetic Linkage and Rare Variant Association Studies to Unravel Novel Disease Etiologies.
DOI: 10.5167/uzh-257321, Dissertation 2024, University of Zurich, Faculty of Science. 2024, Feb. 20.

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

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):e207945. 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.