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Cecile Masson
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Journal Articles

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity

Charlotte Boussard, Laure Delage, Tania Gajardo, Alexandre Kauskot, Maxime Batignes, Nicolas Goudin, Marie-Claude Stolzenberg, Camille Brunaud, Patricia Panikulam, Quentin Riller, Maryse Moya-Nilges, Jean Solarz, Christelle Repérant, Béatrice Durel, Jean-Claude Bordet, Olivier Pellé, Corinne Lebreton, Aude Magérus, Vithura Pirabakaran, Pablo Vargas, Sébastien Dupichaud, Marie Jeanpierre, Angélique Vinit, Mohammed Zarhrate, Cécile Masson, Nathalie Aladjidi, Peter D. Arkwright, Brigitte Bader-Meunier, Sandrine Baron Joly, Joy Benadiba, Elise Bernard, Dominique Berrebi, Christine Bodemer, Martin Castelle, Fabienne Charbit-Henrion, Marwa Chbihi, Agathe Debray, Philippe Drabent, Sylvie Fraitag, Miguel Hié, Judith Landman-Parker, Ludovic Lhermitte, Despina Moshous, Pierre Rohrlich, Frank Ruemmele, Anne Welfringer-Morin, Maud Tusseau, Alexandre Belot, Nadine Cerf-Bensussan, Marie Roelens, Capucine Picard, Bénédicte Neven, Alain Fischer, Isabelle Callebaut, Mickaël Ménager, Fernando E. Sepulveda, Frédéric Adam, Frédéric Rieux-Laucat
Journal: Blood
Blood (2023) 141 (22): 2713–2726.
https://doi.org/10.1182/blood.2022018486
Published: 2023
Includes: Supplemental data
Journal Articles

Adenine base editor–mediated correction of the common and severe IVS1-110 (G>A) β-thalassemia mutation

Giulia Hardouin, Panagiotis Antoniou, Pierre Martinucci, Tristan Felix, Sandra Manceau, Laure Joseph, Cécile Masson, Samantha Scaramuzza, Giuliana Ferrari, Marina Cavazzana, Annarita Miccio
Journal: Blood
Blood (2023) 141 (10): 1169–1179.
https://doi.org/10.1182/blood.2022016629
Published: 2023
Includes: Supplemental data
Journal Articles

Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders

Romain Duval, Gaël Nicolas, Alexandra Willemetz, Yoshiko Murakami, Mahmoud Mikdar, Cedric Vrignaud, Hisham Megahed, Jean-Pierre Cartron, Cecile Masson, Samer Wehbi, Bérengere Koehl, Marie Hully, Karine Siquier, Nicole Chemlay, Agnes Rotig, Stanislas Lyonnet, Yves Colin, Giulia Barcia, Vincent Cantagrel, Caroline Le Van Kim, Olivier Hermine, Taroh Kinoshita, Thierry Peyrard, Slim Azouzi
Journal: Blood
Blood (2021) 137 (26): 3660–3669.
https://doi.org/10.1182/blood.2020009810
Published: 2021
Includes: Supplemental data
Journal Articles

Editing a γ-Globin Repressor Binding Site Restores Fetal Hemoglobin Synthesis and Corrects the Phenotype of Sickle Cell Disease Erythrocytes

Leslie Weber, Giacomo Frati, Tristan Felix, Clara Wollenschlaeger, Antonio Casini, Vasco Meneghini, Cecile Masson, Anne De Cian, Anne Chalumeau, Fulvio Mavilio, PhD, Mario Amendola, Isabelle André, PhD, Anna Cereseto, Wassim El Nemer, PhD, Jean-Paul Concordet, Carine Giovannangeli, Marina Cavazzana, Annarita Miccio, PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 4635.
https://doi.org/10.1182/blood-2019-123192
Published: 2019