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Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
Szot JO, Campagnolo C, Cao Y, Iyer KR, Cuny H, Drysdale T, Flores-Daboub JA, Bi W, Westerfield L, Liu P, Leung TN, Choy KW, Chapman G, Xiao R, Siu VM, Dunwoodie SL. Szot JO, et al. Among authors: choy kw. Am J Hum Genet. 2020 Jan 2;106(1):129-136. doi: 10.1016/j.ajhg.2019.12.006. Epub 2019 Dec 26. Am J Hum Genet. 2020. PMID: 31883644 Free PMC article.
Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics.
Dong Z, Wang H, Chen H, Jiang H, Yuan J, Yang Z, Wang WJ, Xu F, Guo X, Cao Y, Zhu Z, Geng C, Cheung WC, Kwok YK, Yang H, Leung TY, Morton CC, Cheung SW, Choy KW. Dong Z, et al. Among authors: choy kw. Genet Med. 2018 Jul;20(7):697-707. doi: 10.1038/gim.2017.170. Epub 2017 Nov 2. Genet Med. 2018. PMID: 29095815 Free PMC article.
A prospective study of non-invasive preimplantation genetic testing for aneuploidies (NiPGT-A) using next-generation sequencing (NGS) on spent culture media (SCM).
Yeung QSY, Zhang YX, Chung JPW, Lui WT, Kwok YKY, Gui B, Kong GWS, Cao Y, Li TC, Choy KW. Yeung QSY, et al. Among authors: choy kw. J Assist Reprod Genet. 2019 Aug;36(8):1609-1621. doi: 10.1007/s10815-019-01517-7. Epub 2019 Jul 10. J Assist Reprod Genet. 2019. PMID: 31292818 Free PMC article.
Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage.
Dong Z, Yan J, Xu F, Yuan J, Jiang H, Wang H, Chen H, Zhang L, Ye L, Xu J, Shi Y, Yang Z, Cao Y, Chen L, Li Q, Zhao X, Li J, Chen A, Zhang W, Wong HG, Qin Y, Zhao H, Chen Y, Li P, Ma T, Wang WJ, Kwok YK, Jiang Y, Pursley AN, Chung JPW, Hong Y, Kristiansen K, Yang H, Piña-Aguilar RE, Leung TY, Cheung SW, Morton CC, Choy KW, Chen ZJ. Dong Z, et al. Among authors: choy kw. Am J Hum Genet. 2019 Dec 5;105(6):1102-1111. doi: 10.1016/j.ajhg.2019.10.003. Epub 2019 Oct 31. Am J Hum Genet. 2019. PMID: 31679651 Free PMC article.
312 results