Publication
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P. Pedro, Mouna Barat-Houari, Nathalie Ruiz-Pallares, Jean-Christophe Andrau, Didier Lacombe, Julien Van-Gils, Patricia Fergelot, Christèle Dubourg, Valerie Cormier-Daire, Sophie Rondeau, François Lecoquierre, Pascale Saugier-Veber, Gaël Nicolas, Gaetan Lesca, Nicolas Chatron, Damien Sanlaville, Antonio Vitobello, Laurence Faivre, Christel Thauvin-Robinet, Frederic Laumonnier, Martine Raynaud, Mariëlle Alders, Marcel Mannens, Peter Henneman, Raoul C. Hennekam, Guillaume Velasco, Claire Francastel, Damien Ulveling, Andrea Ciolfi, Simone Pizzi, Marco Tartaglia, Solveig Heide, Delphine Héron, Cyril Mignot, Boris Keren, Sandra Whalen, Alexandra Afenjar, Thierry Bienvenu, Philippe M. Campeau, Justine Rousseau, Michael A. Levy, Lauren Brick, Mariya Kozenko, Tugce B. Balci, Victoria Mok Siu, Alan Stuart, Mike Kadour, Jennifer Masters, Kyoko Takano, Tjitske Kleefstra, Nicole de Leeuw, Michael Field, Marie Shaw, Jozef Gecz, Peter J. Ainsworth, Hanxin Lin, David I. Rodenhiser, Michael J. Friez, Matt Tedder, Jennifer A. Lee, Barbara R. DuPont, Roger E. Stevenson, Steven A. Skinner, Charles E. Schwartz, David Genevieve, Bekim Sadikovic
The American Journal of Human Genetics, March 2020, Elsevier
DOI: 10.1016/j.ajhg.2020.01.019