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Page 1
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.
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.
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
Response to Stoll and Resta.
Lazarin GA, Haque IS, Nazareth S, Evans EA. Lazarin GA, et al. Among authors: evans ea. Genet Med. 2013 Apr;15(4):319-20. doi: 10.1038/gim.2013.19. Genet Med. 2013. PMID: 23552454 Free PMC article. No abstract available.
200 results