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Godeliève Morel

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Articles

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

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By Quentin Sabbagh, Sadegheh Haghshenas, Jean-Luc Alessandri, Mads Bak, Allan Bayat, Alfredo Brusco, Tiffany Busa, Paige Calvert, Valérie Cormier-Daire, Yannis Duffourd, Anne Guimier, Laetitia Lambert, Gaetan Lesca, Nicolas Chatron, Michael Levy, Diego Lopergolo, Henri Margot, Haley McConkey, Pauline Monin, Godeliève Morel, Sophie Naudion, Mathilde Nizon, Sylvie Odent, Audrey Putoux, Marlene Rio, Massimiliano Rossi, Nathalie Ruiz-Pallares, Stefano Pagano, Filippo M Santorelli, Clément Sauvestre, Jennifer C. Schymick, Victoria Mok Siu, Matthew L. Tedder, Frédéric Tran Mau-Them, Zeynep Tümer, Irene Valenzuela, Julien Van Gils, Marjolaine Willems, Aron Kirchhoff, Peter Krawitz, Jennifer Kerkhof, Bekim Sadikovic, David Geneviève, Camille Cenni, Mouna Barat-Houari, Anaïs Calaya, Christine Coubes, Giovanni B. Ferrero, Damien Haye, Tina Duelund Hjortshøj, Carolyn Lauzon-Young, Lucile Pinson, Linda Pons, Lucie Rouaux, Flavien Rouxel, Elodie Sanchez, Marta Spodenkiewicz, Mylène Tharreau, Janneke H. M. Schuurs-Hoeijmakers
| Nature Verified
Abstract PACS1-related disorder (PACS1-RD), also known as Schuurs-Hoeijmakers syndrome, is a rare autosomal dominant neurodevelopmental disorder predominantly caused by the recurrent de novo c.607 C > T p.(Arg203Trp) gain-of-function variant. Although core clinical features have been delineated, systematic data on developmental milestones, growth parameters, and clinical variability remain limited.
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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders - European Journal of Human Genetics

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By Thomas Husson, Gaël Nicolas, Elise Brischoux-Boucher, Céline Bonnet, Marie Bournez, Benjamin Cogné, Anne-Sophie Denommé-Pichon, Christel Depienne, Salima El Chehadeh, David Geneviève, Brigitte Gilbert-Dussardier, Gaetan Lesca, Jonathan Levy, Sophie Nambot, Mathilde Nizon, Laurent Pasquier, Amélie Piton, Marlene Rio, Massimiliano Rossi, Frédéric Tran Mau-Them, Julien Van Gils, Marie Vincent, Nicolas Chassaing, Christèle Dubourg, Alinoë Lavillaureix, Godeliève Morel, Luisa Marsili, Laurine Perrin, Pascale Saugier-Veber, Aurélien Trimouille, Gabriella Vera
| Nature Verified
Abstract Variants of uncertain significance (VUS) are a significant issue for the molecular diagnosis of rare diseases. The publication of episignatures as effective biomarkers of certain Mendelian neurodevelopmental disorders has raised hopes to help classify VUS. However, prediction abilities of most published episignatures have not been independently investigated yet, which is a prerequisite for an informed and rigorous use in a diagnostic setting.
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