Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Authors: 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

Source: In The American Journal of Human Genetics 5 March 2020 106(3):356-370

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

Authors: 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

Source: In The American Journal of Human Genetics 4 April 2019 104(4):685-700

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Authors: Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., France, Groupe DI, Barat-Houari, Mouna, Ruiz-Pallares, Nathalie, Andrau, Jean-Christophe, Lacombe, Didier, Van-Gils, Julien, Fergelot, Patricia, Dubourg, Christéle, 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

Source: American journal of human genetics. 108(6):1161-1163

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100136345514.0x000001&indx=1&recIds=ETOCvdc_100136345514.0x000001

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

Authors: 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

Source: In The American Journal of Human Genetics 4 January 2018 102(1):156-174

DNA methylation analysis in constitutional disorders: Clinical implications of the epigenome

Authors: Schenkel, Laila C., Rodenhiser, David I., Ainsworth, Peter J., Paré, Guillaume, Sadikovic, Bekim

Source: Critical reviews in clinical laboratory sciences. 53(3):147-165

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100105367239.0x000001&indx=1&recIds=ETOCvdc_100105367239.0x000001

Human 21T breast epithelial cell lines mimic breast cancer progression in vivo and in vitro and show stage-specific gene expression patterns

Authors: Souter, Lesley H, Andrews, Joseph D, Zhang, Guihua, Cook, Amy C, Postenka, Carl O, Al-Katib, Waleed, Leong, Hon S, Rodenhiser, David I, Chambers, Ann F, Tuck, Alan B

Source: In Laboratory Investigation August 2010 90(8):1247-1258

Epigenetics, Eh!: A meeting summary of the Canadian Conference on Epigenetics

Authors: Rodenhiser, David I., Bérubé, Nathalie G., Mann, Mellissa R.W.

Source: Epigenetics. 6(10):1265-1271

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100053904880.0x000001&indx=1&recIds=ETOCvdc_100053904880.0x000001

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

Authors: 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

Source: Nature communications. 9(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100129871740.0x000001&indx=1&recIds=ETOCvdc_100129871740.0x000001

Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C

Authors: Schenkel, Laila C., Aref-Eshghi, Erfan, Skinner, Cindy, Ainsworth, Peter, Lin, Hanxin, Paré, Guillaume, Rodenhiser, David I., Schwartz, Charles, Sadikovic, Bekim

Source: Clinical epigenetics. 10(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100130396169.0x000001&indx=1&recIds=ETOCvdc_100130396169.0x000001

Genome-wide H3K9 Histone Acetylation Profiles Are Altered in Benzopyrene-treated MCF7 Breast Cancer Cells

Authors: Sadikovic, Bekim, Andrews, Joseph, Carter, David, Robinson, John, Rodenhiser, David I.

Source: In Journal of Biological Chemistry 15 February 2008 283(7):4051-4060

Molecular cytogenetic characterization of human breast cancer cell line MDA-MB-468 and its variant 468LN, which displays aggressive lymphatic metastasis

Authors: Xu, Jie, Chambers, Ann F., Tuck, Alan B., Rodenhiser, David I.

Source: In Cancer Genetics and Cytogenetics 2008 181(1):1-7

Distinct karyotypes in three breast cancer cell lines — 21PTCi, 21NTCi, and 21MT-1 — derived from the same patient and representing different stages of tumor progression

Authors: Xu, Jie, Souter, Lesley H., Chambers, Ann F., Rodenhiser, David I., Tuck, Alan B.

Source: In Cancer Genetics and Cytogenetics 2008 186(1):33-40

Epigenetic inactivation of BRCA1 is associated with aberrant expression of CTCF and DNA methyltransferase ( DNMT3B) in some sporadic breast tumours

Authors: Butcher, Darci T., Rodenhiser, David I.

Source: In European Journal of Cancer 2007 43(1):210-219

DNA methylation analysis using CpG microarrays is impaired in benzopyrene exposed cells

Authors: Sadikovic, Bekim, Andrews, Joseph, Rodenhiser, David I.

Source: In Toxicology and Applied Pharmacology 2007 225(3):300-309

Benzopyrene exposure disrupts DNA methylation and growth dynamics in breast cancer cells

Authors: Sadikovic, Bekim, Rodenhiser, David I.

Source: In Toxicology and Applied Pharmacology 2006 216(3):458-468

Allele-specific non-CpG methylation of the nf1 gene during early mouse development.

Authors: Haines, Thomas R., Rodenhiser, David I., Ainsworth, Peter J.

Source: Developmental Biology; December 15 2001, Vol. 240 Issue 2, p585-598, 14p

Chapter 27 - Epigenomic Mechanisms of Human Developmental Disorders

Authors: Aref-Eshghi, Erfan, Schenkel, Laila C., Carere, Deanna Alexis, Rodenhiser, David I., Sadikovic, Bekim

Source: In Epigenetics in Human Disease Edition: Second Edition. 2018:837-859

Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array

Authors: Schenkel, Laila C., Schwartz, Charles, Skinner, Cindy, Rodenhiser, David I., Ainsworth, Peter J., Pare, Guillaume, Sadikovic, Bekim

Source: In The Journal of Molecular Diagnostics November 2016 18(6):834-841

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CpG methylation within the 5′ regulatory region of the BRCA1 gene is tumor specific and includes a putative CREB binding site.

Authors: Mancini, Debora N, Rodenhiser, David I, Ainsworth, Peter J, O'Malley, Frances P, Singh, Shiva M, Xing, Weirong, Archer, Trevor K

Source: Oncogene. 3/5/98, Vol. 16 Issue 9, p1161. 9p.

Subject Terms: *BREAST cancer, *METHYLATION, *OLIGONUCLEOTIDES