1. BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes. Issue 1 (December 2018) Authors: Aref-Eshghi, Erfan; Bend, Eric; Hood, Rebecca; Schenkel, Laila; Carere, Deanna; Chakrabarti, Rana; Nagamani, Sandesh; Cheung, Sau; Campeau, Philippe; Prasad, Chitra; Siu, Victoria; Brady, Lauren; Tarnopolsky, Mark; Callen, David; Innes, A.; White, Susan; Meschino, Wendy; Shuen, Andrew; Paré, Guil... Journal: Nature communications Issue: Volume 9:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. DNA methylation signatures in mendelian developmental disorders as a diagnostic bridge between genotype and phenotype. (15th March 2019) Authors: Sadikovic, Bekim; Aref-Eshghi, Erfan; Levy, Michael A; Rodenhiser, David Journal: Epigenomics Issue: Volume 11:Number 5(2019) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance. Issue 11 (2nd November 2017) Authors: Aref-Eshghi, Erfan; Schenkel, Laila C.; Lin, Hanxin; Skinner, Cindy; Ainsworth, Peter; Paré, Guillaume; Rodenhiser, David; Schwartz, Charles; Sadikovic, Bekim Journal: Epigenetics Issue: Volume 12:Issue 11(2017) Page Start: 923 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗