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Martin Broly
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Journal Articles

SpeckSeq enables high-throughput functional stratification of MEFV variants in autoinflammatory diseases

Pauline Bronnec, Sarah Dalmon, Chloe Briand, Omran Allatif, Martin Broly, Melissa Marcotte, Gianluca Lombardi, Kevin Barthes, Nora Martel, Sandrine Hughes, Benjamin Gillet, Florian Milhavet, Aysima Atilgan, Hervé Bachelez, Serena Palmeri, Ignazia Prigione, Marine Madrange, Léa Savey, Michel Moutschen, Isabelle Jeru, Majdouline El Moussaoui, Alexandre Belot, Emilie Sbidian, Alessandra Carbone, Yvan Jamilloux, Marco Gattorno, Asma Smahi, Sophie Georgin-Lavialle, Guilaine Boursier, Flora Magnotti, Thomas Henry
Journal: Journal of Experimental Medicine
J Exp Med (2025) 223 (2): e20251065.
https://doi.org/10.1084/jem.20251065
Published: 03 December 2025
View article titled, SpeckSeq enables high-throughput functional stratification of MEFV variants in autoinflammatory diseases
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Includes: Supplementary data
Journal Articles

A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds

Pauline Ober, Christelle Lenoir, Arnaud Maillard, Marie-Gabrielle Vigue, Marjolaine Willems, Sandrine Baron-Joly, Carole E. Aubert, Eva Maria Tinner, Nathalie Lambert, Iben El Missaoui, Frédéric Parisot, Antoine Fayand, Yoann Seeleuthner, Sylvain Hanein, Tom Le Voyer, Martin Broly, Guilaine Boursier, Jean-Laurent Casanova, Peng Zhang, Jana Pachlopnik Schmid, Sylvain Latour, Jérémie Rosain
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250181.
https://doi.org/10.70962/jhi.20250181
Published: 30 October 2025
View article titled, A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds
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