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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref-Eshghi 1 , Jennifer Kerkhof 1 , Victor P Pedro 2 , Groupe DI France; Mouna Barat-Houari 3 , Nathalie Ruiz-Pallares 3 , Jean-Christophe Andrau 4 , Didier Lacombe 5 , Julien Van-Gils 5 , Patricia Fergelot 5 , Christèle Dubourg 6 , Valerie Cormier-Daire 7 , Sophie Rondeau 7 , François Lecoquierre 8 , Pascale Saugier-Veber 8 , Gaël Nicolas 8 , Gaetan Lesca 9 , Nicolas Chatron 9 , Damien Sanlaville 9 , Antonio Vitobello 10 , Laurence Faivre 11 , Christel Thauvin-Robinet 11 , Frederic Laumonnier 12 , Martine Raynaud 12 , Mariëlle Alders 13 , Marcel Mannens 13 , Peter Henneman 13 , Raoul C Hennekam 14 , Guillaume Velasco 15 , Claire Francastel 15 , Damien Ulveling 15 , Andrea Ciolfi 16 , Simone Pizzi 16 , Marco Tartaglia 16 , Solveig Heide 17 , Delphine Héron 17 , Cyril Mignot 17 , Boris Keren 17 , Sandra Whalen 18 , Alexandra Afenjar 18 , Thierry Bienvenu 19 , Philippe M Campeau 20 , Justine Rousseau 20 , Michael A Levy 21 , Lauren Brick 22 , Mariya Kozenko 22 , Tugce B Balci 23 , Victoria Mok Siu 23 , Alan Stuart 1 , Mike Kadour 24 , Jennifer Masters 24 , Kyoko Takano 25 , Tjitske Kleefstra 26 , Nicole de Leeuw 26 , Michael Field 27 , Marie Shaw 28 , Jozef Gecz 29 , Peter J Ainsworth 21 , Hanxin Lin 21 , David I Rodenhiser 30 , Michael J Friez 31 , Matt Tedder 31 , Jennifer A Lee 31 , Barbara R DuPont 31 , Roger E Stevenson 31 , Steven A Skinner 31 , Charles E Schwartz 31 , David Genevieve 32 , Bekim Sadikovic 33

Am J Hum Genet

2020 Mar 5 / vol 106 (3) / pages 356-370

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10.1016/j.ajhg.2020.01.019

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