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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.
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.
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.
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.
60 results