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Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.
Schenkel LC, Kerkhof J, Stuart A, Reilly J, Eng B, Woodside C, Levstik A, Howlett CJ, Rupar AC, Knoll JHM, Ainsworth P, Waye JS, Sadikovic B. Schenkel LC, et al. Among authors: ainsworth p. J Mol Diagn. 2016 Sep;18(5):657-667. doi: 10.1016/j.jmoldx.2016.04.002. Epub 2016 Jul 2. J Mol Diagn. 2016. PMID: 27376475 Free article.
Implementation of an NGS-based sequencing and gene fusion panel for clinical screening of patients with suspected hematologic malignancies.
Levy MA, Santos S, Kerkhof J, Stuart A, Aref-Eshghi E, Guo F, Hedley B, Wong H, Rauh M, Feilotter H, Berardi P, Semenuk L, Yang P, Knoll J, Ainsworth P, McLachlin CM, Chin-Yee I, Kovacs M, Deotare U, Lazo-Langner A, Hsia C, Keeney M, Xenocostas A, Howlett C, Lin H, Sadikovic B. Levy MA, et al. Among authors: ainsworth p. Eur J Haematol. 2019 Sep;103(3):178-189. doi: 10.1111/ejh.13272. Epub 2019 Jul 30. Eur J Haematol. 2019. PMID: 31177553
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. 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.
Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signature.
Aref-Eshghi E, McGee JD, Pedro VP, Kerkhof J, Stuart A, Ainsworth PJ, Lin H, Volodarsky M, McLachlin CM, Sadikovic B. Aref-Eshghi E, et al. Among authors: ainsworth pj. J Hum Genet. 2020 Oct;65(10):865-873. doi: 10.1038/s10038-020-0780-4. Epub 2020 Jun 1. J Hum Genet. 2020. PMID: 32483276 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: ainsworth p. Clin Epigenetics. 2018 Feb 14;10:21. doi: 10.1186/s13148-018-0453-8. eCollection 2018. Clin Epigenetics. 2018. PMID: 29456765 Free PMC article.
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