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Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism.
Pupavac M, Tian X, Chu J, Wang G, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Watkins D, Wong LJ, Rosenblatt DS. Pupavac M, et al. Among authors: chen s. Mol Genet Metab. 2016 Mar;117(3):363-8. doi: 10.1016/j.ymgme.2016.01.008. Epub 2016 Jan 23. Mol Genet Metab. 2016. PMID: 26827111
Corrigendum to "Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations." [Mol. Genet. Metab. (Aug 2016); 118(4): 264-71].
Chu J, Pupavac M, Watkins D, Tian X, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Wong LJ, Rosenblatt DS. Chu J, et al. Among authors: chen s. Mol Genet Metab. 2017 Mar;120(3):295. doi: 10.1016/j.ymgme.2016.11.001. Mol Genet Metab. 2017. PMID: 28284539 No abstract available.
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: chen z, chen s. Nat Med. 2019 Mar;25(3):439-447. doi: 10.1038/s41591-018-0334-x. Epub 2019 Jan 28. Nat Med. 2019. PMID: 30692697
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, Bernstein JA, Hale CL, Silver J, Hudgins L, Ananth A, Hanson-Kahn A, Shuster S; Undiagnosed Diseases Network; Magoulas PL, Patel VN, Zhu W, Chen SM, Jiang Y, Liu P, Eng CM, Batkovskyte D, di Ronza A, Sardiello M, Lee BH, Schaaf CP, Yang Y, Wang X. Tokita MJ, et al. Among authors: chen ca, chen sm. Am J Hum Genet. 2018 Jul 5;103(1):154-162. doi: 10.1016/j.ajhg.2018.06.005. Epub 2018 Jun 28. Am J Hum Genet. 2018. PMID: 29961569 Free PMC 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: chen z, chen s. Nat Med. 2019 Apr;25(4):701-702. doi: 10.1038/s41591-019-0391-9. Nat Med. 2019. PMID: 30787481
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