Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis
Year: 2026
Type: preprint
Source: medRxiv
Authors: Zoéline Mars, Andrea Zanetti, Karolina Kaminska, Takero Miyagawa, Duanya Liu, Aline Antonio, Gavin Arno, Isabelle Audo, Carmen Ayuso, Hafiz Muhammad Jafar Hussain, Xuan Bao, Pilar Barberán-Martínez, Béatrice Bocquet, Anna Boguszewska-Chachulska, Christel Condroyer, Pierre David, Hélène Dollfus, Lucas Fares-Taie, Lidia Fernández-Caballero, Gema García-García, Victor Michel, Chiara Ida Guerrera, Vincent Jung, Line Kessel, Louise Gioja, Siying Lin, Ewa Matczynska, Jose M. Millán, Abigail R. Moye, M Pilar Martín-Gutiérrez, Mathieu Quinodoz, Matthieu P. Robert, Jerome E. Roger, Rui Sousa-Luis, Saoud Tahsin Swafiri, Slawomir Teper, Isabelle Meunier, Olivier Patat, Mark E. Pennesi, Karin A.W. Wadt, Meng Wang, Andrew R. Webster, Paul Yang, Li Yumei, Christina Zeitz, Frederic Rieux-Laucat, Stéphane Giraudier, Rui Chen, Sebastian M. Fica, Carlo Rivolta, Marie Sebert, Jean-Michel Rozet, Isabelle Perrault
Institutions: Inserm, Université Paris Cité, Institut des Maladies Génétiques Imagine, University of Basel, Institute of Molecular and Clinical Ophthalmology Basel, University of Oxford, Institut de recherche Saint-Louis, Hématopoïèse normale et pathologique : Emergence, environnement et recherche translationnelle, Centre National de la Recherche Scientifique, Institut de la Vision, Sorbonne Université, NIHR Moorfields Biomedical Research Centre, UCL Biomedical Research Centre, Greenwood Genetic Center, Moorfields Eye Hospital, University College London, Centre hospitalier national d'ophtalmologie des Quinze-Vingts, Hospital Universitario Fundación Jiménez Díaz, Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Baylor College of Medicine, University of California, Irvine, Instituto de Investigación Sanitaria La Fe, Université de Montpellier, Centre Hospitalier Universitaire de Montpellier, Institute for Neurosciences of Montpellier, Genomed (Poland), Structure fédérative de recherche Necker, Hôpitaux Universitaires de Strasbourg, ERN EYE, Laboratoire de Génétique Médicale, Université de Strasbourg, Instituto de Salud Carlos III, Centre for Biomedical Network Research on Rare Diseases, University of Copenhagen, Glostrup Hospital, Copenhagen University Hospital, Rigshospitalet, University of Manchester, St Mary's Hospital, Manchester University NHS Foundation Trust, Hospital Universitari i Politècnic La Fe, University of Leicester, Hôpital Necker-Enfants Malades, Institut Necker Enfants Malades, Assistance Publique – Hôpitaux de Paris, Université Paris-Saclay, Institut des Neurosciences Paris-Saclay, Medical University of Silesia, Centre Hospitalier Universitaire de Toulouse, Oregon Health & Science University, Retina Foundation of the Southwest, Hôpital Saint-Louis
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: closed
OpenAlex ID: W7126226753