Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes von Aref-Eshghi, Erfan, Rodenhiser, David I., Schenkel, Laila C., Lin, Hanxin, Skinner, Cindy, Ainsworth, Peter, Paré, Guillaume, Hood, Rebecca L., Bulman, Dennis E., Kernohan, Kristin D., Boycott, Kym M., Campeau, Philippe M., Schwartz, Charles, Sadikovic, Bekim

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BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes von Aref-Eshghi, Erfan, Bend, Eric G., Hood, Rebecca L., Schenkel, Laila C., Carere, Deanna Alexis, Chakrabarti, Rana, Nagamani, Sandesh C. S., Cheung, Sau Wai, Campeau, Philippe M., Prasad, Chitra, Siu, Victoria Mok, Brady, Lauren, Tarnopolsky, Mark A., Callen, David J., Innes, A. Micheil, White, Susan M., Meschino, Wendy S., Shuen, Andrew Y., Paré, Guillaume, Bulman, Dennis E., Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Hennekam, Raoul C., Boycott, Kym M., Schwartz, Charles E., Sadikovic, Bekim

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Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions von Aref-Eshghi, Erfan, Bend, Eric G., Colaiacovo, Samantha, Caudle, Michelle, Chakrabarti, Rana, Napier, Melanie, Brick, Lauren, Brady, Lauren, Carere, Deanna Alexis, Levy, Michael A., Kerkhof, Jennifer, Stuart, Alan, Saleh, Maha, Beaudet, Arthur L., Li, Chumei, Kozenko, Maryia, Karp, Natalya, Prasad, Chitra, Siu, Victoria Mok, Tarnopolsky, Mark A., Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Krantz, Ian D., Deardorff, Matthew A., Schwartz, Charles E., Sadikovic, Bekim

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Genome-wide analysis in human colorectal cancer cells reveals ischemia-mediated expression of motility genes via DNA hypomethylation von Skowronski, Karolina, Skowronki, Karolina, Andrews, Joseph, Rodenhiser, David I, Coomber, Brenda L

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Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels von Kerkhof, Jennifer, Schenkel, Laila C., Reilly, Jack, McRobbie, Sheri, Aref-Eshghi, Erfan, Stuart, Alan, Rupar, C. Anthony, Adams, Paul, Hegele, Robert A., Lin, Hanxin, Rodenhiser, David, Knoll, Joan, Ainsworth, Peter J., Sadikovic, Bekim

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The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance von Aref-Eshghi, Erfan, Schenkel, Laila C., Lin, Hanxin, Skinner, Cindy, Ainsworth, Peter, Paré, Guillaume, Rodenhiser, David, Schwartz, Charles, Sadikovic, Bekim

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Genomic DNA Methylation-Derived Algorithm Enables Accurate Detection of Malignant Prostate Tissues von Aref-Eshghi, Erfan, Schenkel, Laila C, Ainsworth, Peter, Lin, Hanxin, Rodenhiser, David I, Cutz, Jean-Claude, Sadikovic, Bekim

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Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C von Schenkel, Laila C, Aref-Eshghi, Erfan, Skinner, Cindy, Ainsworth, Peter, Lin, Hanxin, Paré, Guillaume, Rodenhiser, David I, Schwartz, Charles, Sadikovic, Bekim

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Multi-platform whole-genome microarray analyses refine the epigenetic signature of breast cancer metastasis with gene expression and copy number von Andrews, Joseph, Kennette, Wendy, Pilon, Jenna, Hodgson, Alexandra, Tuck, Alan B, Chambers, Ann F, Rodenhiser, David I

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Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array von Schenkel, Laila C, Schwartz, Charles, Skinner, Cindy, Rodenhiser, David I, Ainsworth, Peter J, Pare, Guillaume, Sadikovic, Bekim

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Genome-wide H3K9 Histone Acetylation Profiles Are Altered in Benzopyrene-treated MCF7 Breast Cancer Cells von Sadikovic, Bekim, Andrews, Joseph, Carter, David, Robinson, John, Rodenhiser, David I.

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Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders von Aref-Eshghi, Erfan, Schenkel, Laila C., Lin, Hanxin, Skinner, Cindy, Ainsworth, Peter, Paré, Guillaume, Siu, Victoria, Rodenhiser, David, Schwartz, Charles, Sadikovic, Bekim

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Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome von Bend, Eric G, Aref-Eshghi, Erfan, Everman, David B, Rogers, R Curtis, Cathey, Sara S, Prijoles, Eloise J, Lyons, Michael J, Davis, Heather, Clarkson, Katie, Gripp, Karen W, Li, Dong, Bhoj, Elizabeth, Zackai, Elaine, Mark, Paul, Hakonarson, Hakon, Demmer, Laurie A, Levy, Michael A, Kerkhof, Jennifer, Stuart, Alan, Rodenhiser, David, Friez, Michael J, Stevenson, Roger E, Schwartz, Charles E, Sadikovic, Bekim

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Epigenetic contributions to cancer metastasis von Rodenhiser, David I

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Gene signatures of breast cancer progression and metastasis von Rodenhiser, David I, Andrews, Joseph D, Vandenberg, Theodore A, Chambers, Ann F

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Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome von Schenkel, Laila C, Kernohan, Kristin D, McBride, Arran, Reina, Ditta, Hodge, Amanda, Ainsworth, Peter J, Rodenhiser, David I, Pare, Guillaume, Bérubé, Nathalie G, Skinner, Cindy, Boycott, Kym M, Schwartz, Charles, Sadikovic, Bekim

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Benzopyrene exposure disrupts DNA methylation and growth dynamics in breast cancer cells von Sadikovic, Bekim, Rodenhiser, David I.

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Epigenetic inactivation of BRCA1 is associated with aberrant expression of CTCF and DNA methyltransferase ( DNMT3B ) in some sporadic breast tumours von Butcher, Darci T, Rodenhiser, David I

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Epigenetic mapping and functional analysis in a breast cancer metastasis model using whole-genome promoter tiling microarrays von Rodenhiser, David I, Andrews, Joseph, Kennette, Wendy, Sadikovic, Bekim, Mendlowitz, Ariel, Tuck, Alan B, Chambers, Ann F

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Epigenetics and human disease: translating basic biology into clinical applications von Rodenhiser, David, Mann, Mellissa

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