Audrey Putoux

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 8

Top Topics

Intellectual Disability

Botulinum Toxin

Endoplasmic Reticulum

Top Venues

Nucleic acids research

Circulation. Genomic and precision medicine

Brain : a journal of neurology

This page only lists publications with an associated author ORCID identifier.

Publications

Ralf A Husain, Xinfu Jiao, J Christopher Hennings, Jan Giesecke, Geeta Palsule, Stefanie Beck-Wödl, Dina Osmanović, Kathrine Bjørgo, Asif Mir, Muhammad Ilyas, Saad M Abbasi, Stephanie Efthymiou, Natalia Dominik, Reza Maroofian, Henry Houlden, Julia Rankin, Alistair T Pagnamenta, Marwan Nashabat, Waleed Altwaijri, Majid Alfadhel, Muhammad Umair, Ebtissal Khouj, William Reardon, Ayman W. El-Hattab, Mohammed Mekki, Gunnar Houge, Christian Beetz, Peter Bauer, Audrey Putoux, Gaetan Lesca, Damien Sanlaville, Fowzan Sami Alkuraya, Robert W Taylor, Hans-Joachim Mentzel, Christian A Hübner, Peter Huppke, Ronald P Hart, Tobias B Haack, Megerditch Kiledjian, Ignacio Rubio
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease. Brain : a journal of neurology 147 (4) (2024)
Fatimat Almentina Ramos Shidi, Audric Cologne, Marion Delous, Alicia Besson, Audrey Putoux, Anne-Louise Leutenegger, Vincent Lacroix, Patrick Edery, Sylvie Mazoyer, Rémy Bordonné
Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex. Nucleic acids research 51 (2) (2023)
Fatimat Almentina Ramos Shidi, Audric Cologne, Marion Delous, Alicia Besson, Audrey Putoux, Anne-Louise Leutenegger, Vincent Lacroix, Patrick Edery, Sylvie Mazoyer, Rémy Bordonné
Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex. Nucleic acids research 51 (2) (2023)
Alexandre Janin, Evan Gouy, Audrey Putoux, Thomas Perouse-de-Monclos, Philippe Chevalier, Adèle Faucherre, Jourdano Mancilla Abaroa, Chris Jopling, Sophie Collardeau Frachon, Jelena Radojevic, Salima El Chehadeh, Gilles Millat
Biallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies. Circulation. Genomic and precision medicine (2023)
Fatimat Almentina Ramos Shidi, Audric Cologne, Marion Delous, Alicia Besson, Audrey Putoux, Anne-Louise Leutenegger, Vincent Lacroix, Patrick Edery, Sylvie Mazoyer, Rémy Bordonné
Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex. Nucleic acids research 51 (2) (2023)
Fatimat Almentina Ramos Shidi, Audric Cologne, Marion Delous, Alicia Besson, Audrey Putoux, Anne-Louise Leutenegger, Vincent Lacroix, Patrick Edery, Sylvie Mazoyer, Rémy Bordonné
Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex. Nucleic acids research (2022)
Idriss Bousquet, Muriel Bozon, Valérie Castellani, Renaud Touraine, Amélie Piton, Bénédicte Gérard, Laurent Guibaud, Damien Sanlaville, Patrick Edery, Pascale Saugier-Veber, Audrey Putoux
X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant. Neurogenetics 22 (1) (2021)
Alix Mathonnet, Séverine Cunat, Fabienne Allias, Sandrine Caillot, Cyrielle Thonnon, Marianne Till, Tania Attié-Bitach, Renaud Touraine, Sandrine Meunier, Charline Cartellier, Massimiliano Rossi, Jocelyne Attia, Audrey Putoux
GGCX-related congenital combined vitamin K-dependent clotting factors deficiency-1: Description of a fetus with chondrodysplasia punctata. American journal of medical genetics. Part A (2021)