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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders. [PDF]
Eur J Hum GenetHusson T, Lecoquierre F, Nicolas G, Richard AC, Afenjar A, Audebert-Bellanger S, Badens C, Bilan F, Bizaoui V, Boland A, Bonnet-Dupeyron MN, Brischoux-Boucher E, Bonnet C, Bournez M, Boute O, Brunelle P, Caumes R, Charles P, Chassaing N, Chatron N, Cogné B, Colin E, Cormier-Daire V, Dard R, Dauriat B, Delanne J, Deleuze JF, Demurger F, Denommé-Pichon AS, Depienne C, Dieux A, Dubourg C, Edery P, El Chehadeh S, Faivre L, Fergelot P, Fradin M, Garde A, Geneviève D, Gilbert-Dussardier B, Goizet C, Goldenberg A, Gouy E, Guerrot AM, Guimier A, Harzalla I, Héron D, Isidor B, Lacombe D, Le Guillou Horn X, Keren B, Kuechler A, Lacaze E, Lavillaureix A, Lehalle D, Lesca G, Lespinasse J, Levy J, Lyonnet S, Morel G, Jean-Marçais N, Marlin S, Marsili L, Mignot C, Nambot S, Nizon M, Olaso R, Pasquier L, Perrin L, Petit F, Pingault V, Piton A, Prieur F, Putoux A, Planes M, Odent S, Quélin C, Quemener-Redon S, Rama M, Rio M, Rossi M, Schaefer E, Rondeau S, Saugier-Veber P, Smol T, Sigaudy S, Touraine R, Mau-Them FT, Trimouille A, Van Gils J, Vanlerberghe C, Vantalon V, Vera G, Vincent M, Ziegler A, Guillin O, Campion D, Charbonnier C. +97 moreeuropepmc +1 more sourceIdentification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterization of chromatinopathies.
Santini A, Tognon A, Richard A, Velasco G, Phan G, Marzin P, Maury F, May A, Michot C, Chirita-Emandi A, Saraiva J, Martinez MJB, Lyonnet S, Sansović I, Barakat TS, Brunelle P, Ghoumid J, Guillou XL, Tanno PL, Willems M, Zenker M, Schanze I, Moortgat S, Isidor B, Rollier P, Guerrot A, Chatron N, Demurger F, Goldenberg A, Delanne J, Faivre L, Nicolas G, Lecoquierre F, Coussement A, Herenger Y, Defrance M, Cormier-Daire V, Charbonnier C, de Dieuleveult M. +38 moreeuropepmc +1 more sourceSome of the next articles are maybe not open access.
