Résultats de la recherche - David I. Rodenhiser
- Résultat(s) 1 - 19 résultats de 19
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Multi-Platform Whole-Genome Microarray Analyses Refine the Epigenetic Signature of Breast Cancer Metastasis with Gene Expression and Copy Number par Joseph Andrews, Wendy Kennette, Jenna Pilon, Alexandra Hodgson, Alan B. Tuck, Ann F. Chambers, David I. Rodenhiser
Publié 2010Artigo -
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Epigenetic mapping and functional analysis in a breast cancer metastasis model using whole-genome promoter tiling microarrays par David I. Rodenhiser, Joseph Andrews, Wendy Kennette, Bekim Sadiković, Ariel Mendlowitz, Alan B. Tuck, Ann F. Chambers
Publié 2008Artigo -
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The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance par Erfan Aref‐Eshghi, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, David I. Rodenhiser, Charles E. Schwartz, Bekim Sadiković
Publié 2017Artigo -
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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 par Laila C. Schenkel, Erfan Aref‐Eshghi, Cindy Skinner, Peter Ainsworth, Hanxin Lin, Guillaume Paré, David I. Rodenhiser, Charles E. Schwartz, Bekim Sadiković
Publié 2018Artigo -
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Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders par Erfan Aref‐Eshghi, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, Victoria Mok Siu, David I. Rodenhiser, Charles E. Schwartz, Bekim Sadiković
Publié 2017Artigo -
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Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome par Laila C. Schenkel, Kristin D. Kernohan, Arran McBride, Reina Ditta, Amanda Hodge, Peter Ainsworth, David I. Rodenhiser, Guillaume Paré, Nathalie G. Bérubé, Cindy Skinner, Kym M. Boycott, Charles E. Schwartz, Bekim Sadiković
Publié 2017Artigo -
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Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels par Jennifer Kerkhof, Laila C. Schenkel, Jack Reilly, Sheri McRobbie, Erfan Aref‐Eshghi, Alan Stuart, C. Anthony Rupar, Paul C. Adams, Robert A. Hegele, Hanxin Lin, David I. Rodenhiser, Joan H.M. Knoll, Peter Ainsworth, Bekim Sadiković
Publié 2017Artigo -
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Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes par Erfan Aref‐Eshghi, David I. Rodenhiser, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, Rebecca L. Hood, Dennis E. Bulman, Kristin D. Kernohan, Kym M. Boycott, Philippe M. Campeau, Charles E. Schwartz, Bekim Sadiković
Publié 2018Artigo -
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Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome par Eric G. Bend, Erfan Aref‐Eshghi, David B. Everman, R. Curtis Rogers, Sara Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather L. Davis, Katie Clarkson, Karen W. Gripp, Dong Li, Elizabeth Bhoj, Elaine H. Zackai, Paul R. Mark, Hákon Hákonarson, Laurie Demmer, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, David I. Rodenhiser, Michael J. Friez, Roger E. Stevenson, Charles E. Schwartz, Bekim Sadiković
Publié 2019Artigo -
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Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions par Erfan Aref‐Eshghi, Eric G. Bend, Samantha Colaiacovo, Michelle Caudle, Rana Chakrabarti, Melanie Napier, Lauren Brick, Lauren Brady, Deanna Alexis Carere, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, Maha Saleh, Arthur L. Beaudet, Chumei Li, Maryia Kozenko, Natalya Karp, Chitra Prasad, Victoria Mok Siu, Mark A. Tarnopolsky, Peter Ainsworth, Hanxin Lin, David I. Rodenhiser, Ian D. Krantz, Matthew A. Deardorff, Charles E. Schwartz, Bekim Sadiković
Publié 2019Artigo -
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BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes par Erfan Aref‐Eshghi, Eric G. Bend, Rebecca L. Hood, Laila C. Schenkel, Deanna Alexis Carere, Rana Chakrabarti, Sandesh C.S. Nagamani, Sau Wai Cheung, Philippe M. Campeau, Chitra Prasad, Victoria Mok Siu, Lauren Brady, Mark A. Tarnopolsky, David Callen, A. Micheil Innes, Susan M. White, Wendy S. Meschino, Andrew Y. Shuen, Guillaume Paré, Dennis E. Bulman, Peter Ainsworth, Hanxin Lin, David I. Rodenhiser, Raoul C. M. Hennekam, Kym M. Boycott, Charles E. Schwartz, Bekim Sadiković
Publié 2018Artigo -
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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders par Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, Mouna Barat‐Houari, Nathalie Ruiz-Pallares, Jean‐Christophe Andrau, Didier Lacombe, Julien Van‐Gils, Patricia Fergelot, Christèle Dubourg, Valérie Cormier‐Daire, Sophie Rondeau, François Lecoquierre, Pascale Saugier‐Veber, Gaël Nicolas, Gaëtan Lesca, Nicolas Chatron, Damien Sanlaville, Antonio Vitobello, Laurence Faivre, Christel Thauvin‐Robinet, Frédéric Laumonnier, Martine Raynaud, Mariëlle Alders, Marcel M.A.M. Mannens, Peter Henneman, Raoul C. Hennekam, Guillaume Velasco, Claire Francastel, Damien Ulveling, Andrea Ciolfi, Simone Pizzi, Marco Tartaglia, Solveig Heide, Delphine Héron, Cyril Mignot, Boris Keren, Sandra Whalen, Alexandra Afenjar, Thierry Bienvenu, Philippe M. Campeau, Justine Rousseau, Michael A. Levy, Lauren Brick, Mariya Kozenko, Tuğçe B. Balcı, Victoria Mok Siu, Alan Stuart, Mike Kadour, Jennifer Masters, Kyoko Takano, Tjitske Kleefstra, Nicole de Leeuw, Michael Field, Marie Shaw, Jozef Gécz, Peter Ainsworth, Hanxin Lin, David I. Rodenhiser, Michael J. Friez, Matthew L. Tedder, Jennifer A. Lee, Barbara R. DuPont, Roger E. Stevenson, Steven A. Skinner, Charles E. Schwartz, David Geneviève, Bekim Sadiković
Publié 2020Artigo
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