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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN; ClinGen Hearing Loss Working Group. Shen J, et al. Among authors: kang hp. Genet Med. 2019 Nov;21(11):2442-2452. doi: 10.1038/s41436-019-0535-9. Epub 2019 Jun 4. Genet Med. 2019. PMID: 31160754 Free PMC article.
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: kang hp. 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: kang hp. Clin Chem. 2018 Jul;64(7):1063-1073. doi: 10.1373/clinchem.2018.286823. Epub 2018 May 14. Clin Chem. 2018. PMID: 29760218
Software-Assisted Manual Review of Clinical Next-Generation Sequencing Data: An Alternative to Routine Sanger Sequencing Confirmation with Equivalent Results in >15,000 Germline DNA Screens.
Muzzey D, Kash S, Johnson JI, Melroy LM, Kaleta P, Pierce KA, Ready K, Kang HP, Haas KR. Muzzey D, et al. Among authors: kang hp. J Mol Diagn. 2019 Mar;21(2):296-306. doi: 10.1016/j.jmoldx.2018.10.002. Epub 2018 Dec 4. J Mol Diagn. 2019. PMID: 30529126 Free 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: kang hp. 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.
78 results