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Mathilde Gras

As seen in: Nature, Journal of Medical Genetics (JMG)
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Articles by Mathilde Gras

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption - Nature Genetics

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By Caroline Nava, Benjamin Cogné, Amandine Santini, Elsa Leitão, François Lecoquierre, Yuyang Chen, Sarah Stenton, Sonja Neuser, Konrad Platzer, Chloé Angelini, Benoît Arveiler, Tahsin Stefan Barakat, Stéphanie Baulac, Claire Beneteau, Stéphane Bézieau, Samantha J. Bryen, Julien Buratti, Almuth Caliebe, John Christodoulou, Andree Delahaye-Duriez, Anne-Sophie Denommé-Pichon, Christèle Dubourg, Salima El Chehadeh, Laurence Faivre, Mélanie Fradin, Svetlana Gorokhova, Mathilde Gras, John M. Greally, Saurav Guha, Tobias B. Haack, Madeleine Harris, Marc-Phillip Hitz, A. Micheil Innes, Celine Jost, Petra Ketteler, Fabian Kilpert, Florian Kraft, Steven S. Laurie, Louis Lebreton, Gaetan Lesca, Jonathan Levy, Agnes Linglart, Jean-Louis Mandel, Víctor Marín, Henri Margot, Johannes A. Mayr, Vincent Michaud, Matthew J. Osmond, Katrin Õunap, Laurent Pasquier, Sandrine Passemard, Melissa Pauly, Christophe Philippe, Annapurna Poduri, Aurora Pujol, Caroline A. Racine, Francis Ramond, André Reis, Rocio Rius, Diana Rodriguez, Clément Sauvestre, Christopher Schröder, Malte Spielmann, Mark Tarnopolsky, Annick Toutain, Frédéric Tran Mau-Them, Julien Van-Gils, Gabriella Vera, André Verdel, Alain Verloes, Marie Vincent, Wojciech P. Galej, Pierre Marijon, Marlene Rio, Séverine Drunat, Nicolas Chatron, Amélie Piton, Gaël Nicolas, Matias Wagner, Rami Abou Jamra, Anne H. O’Donnell-Luria, Nicola Whiffin, Abhilasha Jakhar, Auriane Cospain, Kevin Lüthy, Agatha Schlüter Martin, Harald Surowy, Yoann Vial
| Nature Verified
Abstract The major spliceosome contains five small nuclear RNAs (snRNAs; U1, U2, U4, U5 and U6) essential for splicing. Variants in RNU4-2, encoding U4, cause a neurodevelopmental disorder called ReNU syndrome. We investigated de novo variants in 50 snRNA-encoding genes in a French cohort of 23,649 individuals with rare disorders and gathered additional cases through international collaborations.
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Further characterisation of ARX-related disorders in females due to inherited or de novo variants

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By Mathilde Gras, Solveig Heide, Boris Keren, Stephanie Valence
| Journal of Medical Genetics (JMG)
MG and SH contributed equally. Contributors DH is at the origin of this project. She initiated and supervised the project with the help of CM. SH and MG carried out the literature review, data collection and data analysis. These two authors contributed equally to the work and are both first authors. The other coauthors contributed by providing clinical information of the patients or analysing the genetic data, and reviewed the article with comments and modifications to improve it.
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Wide arthroscopic dorsal capsuloligamentous repair in patients with severe scapholunate instability: a prospective study of 112 patients

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By Charlotte Jaloux, Christophe Mathoulin, Michel Levadoux, Mathilde Gras
| boneandjoint.org.uk
Abstract Aims A conventional arthroscopic capsuloligamentous repair is a reliable surgical solution in most patients with scapholunate instability. However, this repair does not seem to be sufficient for more advanced injuries. The aim of this study was to evaluate the functional results of a wide arthroscopic dorsal capsuloligamentous repair (WADCLR) in the management of severe scapholunate instability. Methods This was a prospective single-centre study undertaken between March 2019 and May 2021.
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