DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals

European Journal of Human Genetics 2026 Open access

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Authors: Quentin Sabbagh, Camille Cenni, Sadegheh Haghshenas, Jean‐Luc Alessandri, Mads Bak, Allan Bayat, Mouna Barat-Houari, Alfredo Brusco, Tiffany Busa, Anais Calaya, Paige Calvert, Valérie Cormier-Daire
+48 more Christine Coubes, Yannis Duffourd, Giovanni B. Ferrero, Anne Guimier, Damien Haye, Tina Duelund Hjortshøj, Laëtitia Lambert, Karen Bonde Larsen, Carolyn Lauzon-Young, Gaetan Lesca, Nicolas Chatron, Michael A. Levy, Diego Lopergolo, Henri Margot, Haley McConkey, Pauline Monin, Godeliève Morel, Sophie Naudion, Mathilde Nizon, Sylvie Odent, Lucile Pinson, Linda Pons, Audrey Putoux, Marlène Rio, Massimiliano Rossi, Lucie Rouaux, Flavien Rouxel, Nathalie Ruiz-Pallares, Elodie Sanchez, Stefano Pagano, Filippo M. Santorelli, Clément Sauvestre, Jennifer C. Schymick, Victoria Mok Siu, Marta Spodenkiewicz, Matthew L. Tedder, Mylène Tharreau, Frederic Tran Mau-Them, Zeynep Tümer, Irene Valenzuela, Julien Van Gils, Marjolaine Willems, Aron Kirchhoff, Peter Krawitz, Jennifer Kerkhof, Janneke Schuurs-Hoeijmakers, Bekim Sadikovic, David Geneviève
DOI: 10.1038/s41431-026-02083-0
Cited by: 2
References: 39

Fields of Study & Subjects

Genomics and Rare Diseases Cerebrovascular and genetic disorders Neurological diseases and metabolism

Publication details

Journal / source
European Journal of Human Genetics
Publisher
Springer Science and Business Media LLC
Volume
34
Issue
6
Pages
759–768
Publication date
25 March 2026
Language
EN