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American Journal of Human Genetics|January 6, 2018
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental SyndromesErfan Aref-Eshghi, David I Rodenhiser, Laila C Schenkel, et al.Nature Communications|November 22, 2018
BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromesErfan Aref-Eshghi, Eric G Bend, Rebecca L Hood, et al.Pageof 3