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Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Zhang J, et al. Among authors: wang x, wang g, wang y. Nat Med. 2019 Mar;25(3):439-447. doi: 10.1038/s41591-018-0334-x. Epub 2019 Jan 28. Nat Med. 2019. PMID: 30692697
The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.
Feng Y, Ge X, Meng L, Scull J, Li J, Tian X, Zhang T, Jin W, Cheng H, Wang X, Tokita M, Liu P, Mei H, Wang Y, Li F, Schmitt ES, Zhang WV, Muzny D, Wen S, Chen Z, Yang Y, Beaudet AL, Liu X, Eng CM, Xia F, Wong LJ, Zhang J. Feng Y, et al. Among authors: wang x, wang y. Genet Med. 2017 Aug;19(8):936-944. doi: 10.1038/gim.2016.215. Epub 2017 Jan 26. Genet Med. 2017. PMID: 28125085 Free article.
Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Zhang J, et al. Among authors: wang x, wang g, wang y. Nat Med. 2019 Apr;25(4):701-702. doi: 10.1038/s41591-019-0391-9. Nat Med. 2019. PMID: 30787481
Interpretation of mitochondrial tRNA variants.
Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ. Wong LC, et al. Among authors: wang j, wang y. Genet Med. 2020 May;22(5):917-926. doi: 10.1038/s41436-019-0746-0. Epub 2020 Jan 22. Genet Med. 2020. PMID: 31965079 Free article.
Correction: Interpretation of mitochondrial tRNA variants.
Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ. Wong LC, et al. Among authors: wang j, wang y. Genet Med. 2020 May;22(5):979. doi: 10.1038/s41436-020-0770-0. Genet Med. 2020. PMID: 32132679 Free article.
Correction: Interpretation of mitochondrial tRNA variants.
Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ. Wong LC, et al. Among authors: wang j, wang y. Genet Med. 2020 Jun;22(6):1130. doi: 10.1038/s41436-020-0802-9. Genet Med. 2020. PMID: 32269312 Free article.
Response to Bai et al.
Wong LC, Chen T, Schmitt ES, Wang J, Zhang S, Landsverk M, Li F, Tang S, Wang Y, Zhang VW, Craigen WJ. Wong LC, et al. Among authors: wang j, wang y. Genet Med. 2020 Aug;22(8):1420-1421. doi: 10.1038/s41436-020-0805-6. Epub 2020 May 18. Genet Med. 2020. PMID: 32418988 Free article. No abstract available.
Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood.
Gropman A, Uittenbogaard M, Brantner CA, Wang Y, Wong LJ, Chiaramello A. Gropman A, et al. Among authors: wang y. Mol Genet Metab Rep. 2020 May 28;24:100609. doi: 10.1016/j.ymgmr.2020.100609. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32489883 Free PMC article.
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Yuan B, Wang L, Liu P, Shaw C, Dai H, Cooper L, Zhu W, Anderson SA, Meng L, Wang X, Wang Y, Xia F, Xiao R, Braxton A, Peacock S, Schmitt E, Ward PA, Vetrini F, He W, Chiang T, Muzny D, Gibbs RA, Beaudet AL, Breman AM, Smith J, Cheung SW, Bacino CA, Eng CM, Yang Y, Lupski JR, Bi W. Yuan B, et al. Among authors: wang x, wang l, wang y. Genet Med. 2020 Oct;22(10):1633-1641. doi: 10.1038/s41436-020-0864-8. Epub 2020 Jun 24. Genet Med. 2020. PMID: 32576985 Free PMC article.
Clinical and laboratory interpretation of mitochondrial mRNA variants.
Wong LC, Chen T, Schmitt ES, Wang J, Tang S, Landsverk M, Li F, Zhang S, Wang Y, Zhang VW, Craigen WJ. Wong LC, et al. Among authors: wang j, wang y. Hum Mutat. 2020 Oct;41(10):1783-1796. doi: 10.1002/humu.24082. Epub 2020 Jul 22. Hum Mutat. 2020. PMID: 32652755
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