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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2003 1
2004 4
2005 3
2006 6
2007 3
2008 2
2009 3
2010 16
2011 9
2012 12
2013 12
2014 16
2015 7
2016 8
2017 6
2018 6
2019 16
2020 14
2021 9
2022 11
2023 12
2024 6

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156 results

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Page 1
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: choy kw. Nat Med. 2019 Mar;25(3):439-447. doi: 10.1038/s41591-018-0334-x. Epub 2019 Jan 28. Nat Med. 2019. PMID: 30692697
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: wai choy k. 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.
Genetic screening in patients with ovarian dysfunction.
Zeng Y, Li L, Li Q, Hu J, Zhang N, Wu L, Yan Z, Qu R, Dong J, Liu R, Choy KW, Wang L, Sang Q, Guan Y, Chen B. Zeng Y, et al. Among authors: choy kw. Clin Genet. 2023 Mar;103(3):352-357. doi: 10.1111/cge.14267. Epub 2022 Nov 22. Clin Genet. 2023. PMID: 36373164
Molecular genetics in fetal neurology.
Huang J, Wah IY, Pooh RK, Choy KW. Huang J, et al. Among authors: choy kw. Semin Fetal Neonatal Med. 2012 Dec;17(6):341-6. doi: 10.1016/j.siny.2012.07.007. Epub 2012 Aug 19. Semin Fetal Neonatal Med. 2012. PMID: 22909903 Review.
Mate-pair genome sequencing reveals structural variants for idiopathic male infertility.
Dong Z, Qian J, Law TSM, Chau MHK, Cao Y, Xue S, Tong S, Zhao Y, Kwok YK, Ng K, Chan DYL, Chiu PK, Ng CF, Chung CHS, Mak JSM, Leung TY, Chung JPW, Morton CC, Choy KW. Dong Z, et al. Among authors: choy kw. Hum Genet. 2023 Mar;142(3):363-377. doi: 10.1007/s00439-022-02510-4. Epub 2022 Dec 16. Hum Genet. 2023. PMID: 36526900
Reply.
Chau MHK, Sahota DS, Choy KW, Choy KW. Chau MHK, et al. Among authors: choy kw. Am J Obstet Gynecol. 2019 Dec;221(6):661-662. doi: 10.1016/j.ajog.2019.08.029. Epub 2019 Aug 27. Am J Obstet Gynecol. 2019. PMID: 31469991 No abstract available.
156 results