Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
Elsa Leitão(University of Duisburg-Essen), Christophe Philippe, Ingo Kurth(Universität Hamburg), Sian Macdonald, Stanislas Lyonnet(Hôpital Necker-Enfants Malades), Valérie Olin, Julien Maraval, Vincent Laugel(Université de Strasbourg), Thomas Besnard(Génétique Médicale & Génomique Fonctionelle), Godeliève Morel(Centre Hospitalier Universitaire de La Réunion), Mathilde Nizon(Centre National de la Recherche Scientifique), Eleni Panagiotakaki(Centre National de la Recherche Scientifique), Olfa Messaoud(Broad Institute), Anne-Sophie Lèbre(Inserm), Sophie Nambot(Université de Bourgogne), Kevin Lüthy, Jérémie Mortreux(Inserm), Perrine Charles(School of the Art Institute of Chicago), Nico Lieffering, Naomi Meave Ojeda, Audrey Labalme(Hôpital Lyon Sud), A. D. Neale, Alma Kuechler(Essen University Hospital), Olivier Patat(Hôpital Purpan), M. O'Leary, Rémi Kirstetter, Jean-Serene Laloy, Robin Paluch, Florian Kraft, Cyril Mignot(Sorbonne Université), Laetitia Nguyen, Amandine Santini(Inserm), Vincent Navarro, Jean-Madeleine de Sainte Agathe, Jonathan Levy, Eric Leguern, Arnold Munnich, Laurence Perrin-Sabourin, Sylvie Odent, Floriane Le Bricquir, Lynn S. Pais, Carolin Mattausch, Florence Petit, Katrin Õunap, Boris Keren, Rima Nabbout, Frédérique Nowak, Jeremias Krause(RWTH Aachen University), Lamisse Mansour-Hendili, Marine Lebrun(Hôpital Nord)
RWTH Publications (RWTH Aachen)
January 1, 2025
Cited by 0
Related Papers
Deep learning can predict microsatellite instability directly from histology in gastrointestinal cancer
|Nature Medicine|2019|1.5k
Pan-cancer image-based detection of clinically actionable genetic alterations
|Nature Cancer|2020|674
Clinical-Grade Detection of Microsatellite Instability in Colorectal Tumors by Deep Learning
|Gastroenterology|2020|382