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Page 1
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.
Aref-Eshghi E, Rodenhiser DI, Schenkel LC, Lin H, Skinner C, Ainsworth P, Paré G, Hood RL, Bulman DE, Kernohan KD; Care4Rare Canada Consortium; Boycott KM, Campeau PM, Schwartz C, Sadikovic B. Aref-Eshghi E, et al. Among authors: rodenhiser di. Am J Hum Genet. 2018 Jan 4;102(1):156-174. doi: 10.1016/j.ajhg.2017.12.008. Am J Hum Genet. 2018. PMID: 29304373 Free PMC article.
Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array.
Schenkel LC, Schwartz C, Skinner C, Rodenhiser DI, Ainsworth PJ, Pare G, Sadikovic B. Schenkel LC, et al. Among authors: rodenhiser di. J Mol Diagn. 2016 Nov;18(6):834-841. doi: 10.1016/j.jmoldx.2016.06.005. Epub 2016 Aug 29. J Mol Diagn. 2016. PMID: 27585064 Free article.
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.
Schenkel LC, Kernohan KD, McBride A, Reina D, Hodge A, Ainsworth PJ, Rodenhiser DI, Pare G, Bérubé NG, Skinner C, Boycott KM, Schwartz C, Sadikovic B. Schenkel LC, et al. Among authors: rodenhiser di. Epigenetics Chromatin. 2017 Mar 10;10:10. doi: 10.1186/s13072-017-0118-4. eCollection 2017. Epigenetics Chromatin. 2017. PMID: 28293299 Free PMC article.
Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C.
Schenkel LC, Aref-Eshghi E, Skinner C, Ainsworth P, Lin H, Paré G, Rodenhiser DI, Schwartz C, Sadikovic B. Schenkel LC, et al. Among authors: rodenhiser di. Clin Epigenetics. 2018 Feb 14;10:21. doi: 10.1186/s13148-018-0453-8. eCollection 2018. Clin Epigenetics. 2018. PMID: 29456765 Free PMC article.
BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.
Aref-Eshghi E, Bend EG, Hood RL, Schenkel LC, Carere DA, Chakrabarti R, Nagamani SCS, Cheung SW, Campeau PM, Prasad C, Siu VM, Brady L, Tarnopolsky MA, Callen DJ, Innes AM, White SM, Meschino WS, Shuen AY, Paré G, Bulman DE, Ainsworth PJ, Lin H, Rodenhiser DI, Hennekam RC, Boycott KM, Schwartz CE, Sadikovic B. Aref-Eshghi E, et al. Among authors: rodenhiser di. Nat Commun. 2018 Nov 20;9(1):4885. doi: 10.1038/s41467-018-07193-y. Nat Commun. 2018. PMID: 30459321 Free PMC article.
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
Aref-Eshghi E, Bend EG, Colaiacovo S, Caudle M, Chakrabarti R, Napier M, Brick L, Brady L, Carere DA, Levy MA, Kerkhof J, Stuart A, Saleh M, Beaudet AL, Li C, Kozenko M, Karp N, Prasad C, Siu VM, Tarnopolsky MA, Ainsworth PJ, Lin H, Rodenhiser DI, Krantz ID, Deardorff MA, Schwartz CE, Sadikovic B. Aref-Eshghi E, et al. Among authors: rodenhiser di. Am J Hum Genet. 2019 Apr 4;104(4):685-700. doi: 10.1016/j.ajhg.2019.03.008. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929737 Free PMC article.
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