Publications 2025

ZORA Publication List

Publications

• 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.
• 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.
• 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.

Pagination