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Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment.
Vysotskaia VS, Hogan GJ, Gould GM, Wang X, Robertson AD, Haas KR, Theilmann MR, Spurka L, Grauman PV, Lai HH, Jeon D, Haliburton G, Leggett M, Chu CS, Iori K, Maguire JR, Ready K, Evans EA, Kang HP, Haque IS. Vysotskaia VS, et al. Among authors: evans ea. PeerJ. 2017 Feb 23;5:e3046. doi: 10.7717/peerj.3046. eCollection 2017. PeerJ. 2017. PMID: 28243543 Free PMC article.
Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification.
Hogan GJ, Vysotskaia VS, Beauchamp KA, Seisenberger S, Grauman PV, Haas KR, Hong SH, Jeon D, Kash S, Lai HH, Melroy LM, Theilmann MR, Chu CS, Iori K, Maguire JR, Evans EA, Haque IS, Mar-Heyming R, Kang HP, Muzzey D. Hogan GJ, et al. Among authors: evans ea. Clin Chem. 2018 Jul;64(7):1063-1073. doi: 10.1373/clinchem.2018.286823. Epub 2018 May 14. Clin Chem. 2018. PMID: 29760218
Re: Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children (From: Silver AJ, Larson JL, Silver MJ, et al. Genet Test Mol Biomarkers 2016;20:276-284).
Wong KK, Goldberg JD, Evans EA, Kang HP, Haque IS. Wong KK, et al. Among authors: evans ea. Genet Test Mol Biomarkers. 2016 Aug;20(8):413-4. doi: 10.1089/gtmb.2016.29019.kkw. Genet Test Mol Biomarkers. 2016. PMID: 27505438 No abstract available.
Systematic design and comparison of expanded carrier screening panels.
Beauchamp KA, Muzzey D, Wong KK, Hogan GJ, Karimi K, Candille SI, Mehta N, Mar-Heyming R, Kaseniit KE, Kang HP, Evans EA, Goldberg JD, Lazarin GA, Haque IS. Beauchamp KA, et al. Among authors: evans ea. Genet Med. 2018 Jan;20(1):55-63. doi: 10.1038/gim.2017.69. Epub 2017 Jun 22. Genet Med. 2018. PMID: 28640244 Free PMC article.
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
Lazarin GA, Haque IS, Nazareth S, Iori K, Patterson AS, Jacobson JL, Marshall JR, Seltzer WK, Patrizio P, Evans EA, Srinivasan BS. Lazarin GA, et al. Among authors: evans ea. Genet Med. 2013 Mar;15(3):178-86. doi: 10.1038/gim.2012.114. Epub 2012 Sep 13. Genet Med. 2013. PMID: 22975760 Free PMC article.
200 results