Exportierbare Liste wissenschaftlicher Publikationen

ZORA Publikationsliste

Publikationen

• Figueiro-Silva, Joana; Eschment, Melanie; Mennel, Michelle; Abidi, Affef; Oneda, Beatrice; Rauch, Anita; Bachmann-Gagescu, Ruxandra (2025). CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines. Stem Cell Research, 87:103781.
• Zech, Michael; Dzinovic, Ivana; Škorvánek, Matej; Harrer, Philip; Necpál, Ján; Kopajtich, Robert; Kittke, Volker; Tilch, Erik; Zhao, Chen; Tsoma, Eugenia; Sorrentino, Ugo; Indelicato, Elisabetta; Stehr, Antonia; Saparov, Alice; Abela, Lucia; Adamovičová, Miriam; Afenjar, Alexandra; Assmann, Birgit; Baloghova, Janette; Baumann, Matthias; Berutti, Riccardo; Brezna, Zuzana; Brugger, Melanie; Brunet, Theresa; Cogné, Benjamin; Colangelo, Isabel; Distelmaier, Felix; Hackenberg, Annette; Kolokotronis, Konstantinos; Toelle, Sandra P; et al (2025). Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia. Brain : a Journal of Neurology, 148(8):2827-2846.
• Delas, Flora; Koller, Samuel; Maggi, Jordi; Maspoli, Alessandro; Kurmann, Lisa; Lang, Elena; Berger, Wolfgang; Gerth-Kahlert, Christina (2025). Novel Genetic Variants and Clinical Profiles in Peters Anomaly Spectrum Disorders. International Journal of Molecular Sciences, 26(13):6454.
• Pérez Baca, María del Rocío; Palomares-Bralo, María; Vanhooydonck, Michiel; Hamerlinck, Lisa; D’haene, Eva; Leimbacher, Sebastian; Jacobs, Eva Z; De Cock, Laurenz; d’Haenens, Erika; Dheedene, Annelies; Malfait, Zoë; Vantomme, Lies; Silva, Ananilia; Rooney, Kathleen; Zhao, Xiaonan; Saeidian, Amir Hossein; Owen, Nichole Marie; Santos-Simarro, Fernando; Lleuger-Pujol, Roser; García-Miñaúr, Sixto; Losantos-García, Itsaso; Menten, Björn; Gestri, Gaia; Ragge, Nicola; Steindl, Katharina; Kolokotronis, Konstantinos; Zanoni, Paolo; et al (2025). Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder. American Journal of Human Genetics, 112(6):1388-1414.
• Cheerie, David; Meserve, Margaret M; Beijer, Danique; Kaiwar, Charu; Newton, Logan; Taylor Tavares, Ana Lisa; 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 J; Whittle, Ella F; Zardetto, Bianca; Yu, Timothy W; Synofzik, Matthis; Aartsma-Rus, Annemieke; Costain, Gregory; Lauffer, Marlen C (2025). Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments. American Journal of Human Genetics, 112(5):975-983.
• Schmid, Cosima M; Gregor, Anne; Ruiz, Anna; Manso Bazús, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; McNiven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anaïs; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogné, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B; Falb, Ruth J; Müller, Amelie J; Linden, Tobias; Haldeman-Englert, Chad R; Ockeloen, Charlotte W; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer Alisha; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M; Elloumi, Houda Z; Person, Richard; Zou, Fanggeng; Kahle, Juliette J; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M; Ramos, Fabiana; Srivastava, Siddharth; Quinlan, Aisling; Robertson, Stephen; Manka, Eva; Kuechler, Alma; Spranger, Stephanie; Nowaczyk, Malgorzata J M; Elshafie, Reem M; Alsharhan, Hind; Hillman, Paul R; Dunnington, Leslie A; Braakman, Hilde M H; McKee, Shane; Moresco, Angelica; Ignat, Andrea-Diana; Newbury-Ecob, Ruth; Banneau, Guillaume; Patat, Olivier; Kuerbitz, Jeffrey; Rzucidlo, Susan; Sell, Susan S; Gordon, Patricia; Schuhmann, Sarah; Reis, André; Halleb, Yosra; Stoeva, Radka; Keren, Boris; Al Masseri, Zainab; Tumer, Zeynep; Hammer-Hansen, Sophia; Krüger Sølyst, Sofus; Steigerwald, Connolly G; Abreu, Nicolas J; Faust, Helene; Müller-Nedebock, Amica; Tran Mau-Them, Frédéric; Sticht, Heinrich; Zweier, Christiane (2025). Further delineation of the SCAF4-associated neurodevelopmental disorder. European Journal of Human Genetics, 33(5):588-594.
• Schmidt, Ryan E; Pohodich, Amy E; Birch, David; Jones, Kaylie; Lam, Byron L; Jung, Emily H; Jain, Nieraj; Georgiou, Michalis; Mahroo, Omar A; Webster, Andrew R; Michaelides, Michel; Bakall, Benjamin; Iannaccone, Alessandro; Vincent, Ajoy; Parameswarappa, Deepika C; Heon, Elise; Scholl, Hendrik P N; Janeschitz-Kriegl, Lucas; Traboulsi, Elias I; Zein, Wadih; Brooks, Brian P; Cukras, Catherine; Hufnagel, Robert; Hanson, James V M; Tedeus, Matthias; Maggi, Jordi; Graf, Urs; Koller, Samuel; Berger, Wolfgang; Gerth-Kahlert, Christina; et al (2025). Variants in CFAP410 cause a range of retinal and skeletal phenotypes. n p j Genomic Medicine, 10(1):32.
• Haenseler, Walther; Eschment, Melanie; Evans, Beth; Brasili, Marta; Figueiro-Silva, Joana; Roethlisberger, Fee; Abidi, Affef; Jackson, Darcie; Müller, Martin; Cowley, Sally A; Bachmann-Gagescu, Ruxandra (2025). Differences in neuronal ciliation rate and ciliary content revealed by systematic imaging-based analysis of hiPSC-derived models across protocols. Frontiers in Cell and Developmental Biology, 13:1516596.
• Foa, Nastasia; Pfau, Maximilian; Ansari, Georg; Cancian, Giuseppe; Grimaldi, Gabriela; Koller, Samuel; Berger, Wolfgang; Escher, Pascal; Janeschitz-Kriegl, Lucas; Rivolta, Carlo; Scholl, Hendrik P N; Menghini, Moreno (2025). Autosomal dominant RP1 c.2613dupA (p.Arg872Thrfs*2) variant retinitis pigmentosa shows linear loss of the ellipsoid zone over time with highly variable phenotype. Ophthalmologica, 248(3):175-184.
• Schuknecht, Angelika; Wachtl, Josephine; Baumer, Alessandra; Kniestedt, Christoph (2025). 19-Year Follow-up on Patients with Axenfeld-Rieger Anomaly or Syndrome and Fuchsʼ Endothelial Dystrophy Including the 6th Generation in a Pedigree. Klinische Monatsblätter für Augenheilkunde, 242(04):332-338.
• Maggi, Kevin. Investigating the Role of Norrin in Neuroretinal Development. 2025, University of Zurich, Faculty of Science.
• Houdayer, Clara; Rooney, Kathleen; van der Laan, Liselot; Bris, Céline; Alders, Mariëlle; Bahr, Angela; Barcia, Giulia; Battault, Clarisse; Begemann, Anais; Bonneau, Dominique; Bonnevalle, Antoine; Boughalem, Aicha; Bourges, Alice; Bournez, Marie; Bruel, Ange-Line; Buhas, Daniela; Carallis, Floriane; Cogné, Benjamin; Cormier-Daire, Valérie; Delanne, Julian; Demaret, Tanguy; Denommé-Pichon, Anne-Sophie; Desir, Julie; Dubourg, Christèle; Fradin, Mélanie; Geneviève, David; Goel, Himanshu; Oneda, Beatrice; Rauch, Anita; Steindl, Katharina; et al (2025). ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature. European Journal of Human Genetics:Epub ahead of print.
• Yusifov, Elkhan; Schaettin, Martina; Dumoulin, Alexandre; Bachmann-Gagescu, Ruxandra; Stoeckli, Esther T (2025). The primary cilium gene CPLANE1 is required for peripheral nervous system development. Developmental Biology, 519:106-121.
• Scaccini, Sara; Cesaroni, Carlo Alberto; Caraffi, Stefano Giuseppe; Rizzi, Susanna; Rosato, Simonetta; Peluso, Francesca; Spagnoli, Carlotta; Cavalli, Anna; Brugnoli, Chiara; Scandolo, Giulia; Pantani, Agnese; Ivanovski, Ivan; Garavelli, Livia; Frattini, Daniele; Fusco, Carlo (2025). Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP. Neurogenetics, 26(1):32.
• Zjacic, Nicolina. Towards a Prenatal Diagnostic Pipeline for Variants of Unknown Significance in Noonan Syndrome Genes. 2025, University of Zurich, Mathematisch-naturwissenschaftliche Fakultät.
• Zeckanovic, Aida; Scheidegger, Nastassja; Prader, Seraina; Thanikkel, Leo; Elgizouli, Magdeldin; Bodmer, Nicole (2025). Pediatric Acute B‐Lymphoblastic Leukemia Presenting as Hypereosinophilia With Lung Involvement and Elevated Immunoglobulin E Levels. Pediatric Blood & Cancer, 72(2):e31461.
• 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 (2025). Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability. Genetics in Medicine, 27(1):101253.
• 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 (2025). Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder. Annals of Neurology, 97(1):76-89.
• Bürger, Olga; Humbel, Angelika; Ivanovski, Ivan; Baumer, Alessandra; Rauch, Anita (2025). Further evidence for an attenuated phenotype of in‐frame DMD deletions affecting the central rod domain of dystrophin around exon 48. American Journal of Medical Genetics. Part A, 197(1):e63842.