Article
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
American journal of human genetics - 5 Mar 2020
Aref-Eshghi Erfan, Kerkhof Jennifer, Pedro Victor P, Barat-Houari Mouna, Ruiz-Pallares Nathalie, Andrau Jean-Christophe, Lacombe Didier, Van-Gils Julien, Fergelot Patricia, Dubourg Christèle, Cormier-Daire Valerie, Rondeau Sophie, Lecoquierre François, Saugier-Veber Pascale, Nicolas Gaël, Lesca Gaetan, Chatron Nicolas, Sanlaville Damien, Vitobello Antonio, Faivre Laurence, Thauvin-Robinet Christel, Laumonnier Frederic, Raynaud Martine, Alders Mariëlle, Mannens Marcel, Henneman Peter, Hennekam Raoul C, Velasco Guillaume, Francastel Claire, Ulveling Damien, Ciolfi Andrea, Pizzi Simone, Tartaglia Marco, Heide Solveig, Héron Delphine, Mignot Cyril, Keren Boris, Whalen Sandra, Afenjar Alexandra, Bienvenu Thierry, Campeau Philippe M, Rousseau Justine, Levy Michael A, Brick Lauren, Kozenko Mariya, Balci Tugce B, Siu Victoria Mok, Stuart Alan, Kadour Mike, Masters Jennifer, Takano Kyoko, Kleefstra Tjitske, de Leeuw Nicole, Field Michael, Shaw Marie, Gecz Jozef, Ainsworth Peter J, Lin Hanxin, Rodenhiser David I, Friez Michael J, Tedder Matt, Lee Jennifer A, DuPont Barbara R, Stevenson Roger E, Skinner Steven A, Schwartz Charles E, Genevieve David, Sadikovic Bekim
Abstract excerpt
Genetic syndromes frequently present with overlapping clinical features and inconclusive or ambiguous genetic findings which can confound accurate diagnosis and clinical management. An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). Peripheral blood episignatures can be used for diagnostic testing as well as for the interpretation of...
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