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Publications
2025
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2025
Publications published on ZORA
Our publications listed in ZORA, the online library of the University of Zurich, can be found below.
For preprints, latest publications, downloadable lists and text files, please visit the pages listed below.
List of articles ("Exportable")
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ZORA - Note on Authors
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Publications
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.
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.
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:Epub ahead of print.
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.
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