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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: haque is. 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: haque is. 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: haque is. 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.
Prenatal Carrier Screening.
Haque IS, Lazarin GA, Wapner RJ. Haque IS, et al. JAMA. 2016 Dec 27;316(24):2675-2676. doi: 10.1001/jama.2016.17401. JAMA. 2016. PMID: 28027359 No abstract available.
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: haque is. Clin Chem. 2018 Jul;64(7):1063-1073. doi: 10.1373/clinchem.2018.286823. Epub 2018 May 14. Clin Chem. 2018. PMID: 29760218
32 results