Cao Y - Search Results

1

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: cao y. 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.

2

Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study.

Cao Y, Li Z, Rosenfeld JA, Pursley AN, Patel A, Huang J, Wang H, Chen M, Sun X, Leung TY, Cheung SW, Choy KW. Cao Y, et al. Genet Med. 2016 Oct;18(10):1052-5. doi: 10.1038/gim.2015.216. Epub 2016 Feb 25. Genet Med. 2016. PMID: 26913922 Free article.

3

Prenatal detection of 10q22q23 duplications: dilemmas in phenotype prediction.

Kong GW, Cao Y, Huang J, Cheng KY, Pursley AN, Rosenfeld JA, Edwards JG, Chan YM, Cheung SW, Leung TY, Choy KW. Kong GW, et al. Among authors: cao y. Prenat Diagn. 2016 Dec;36(13):1211-1216. doi: 10.1002/pd.4959. Epub 2016 Nov 29. Prenat Diagn. 2016. PMID: 27859473

4

Chromosome copy number variants in fetuses with syndromic malformations.

Wang H, Chau MHK, Cao Y, Kwok KY, Choy KW. Wang H, et al. Among authors: cao y. Birth Defects Res. 2017 Jun 1;109(10):725-733. doi: 10.1002/bdr2.1054. Birth Defects Res. 2017. PMID: 28568742 Review.

5

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: cao y. 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.

6

Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly.

Wong CW, Or PMY, Wang Y, Li L, Li J, Yan M, Cao Y, Luk HM, Tong TMF, Leslie NR, Lo IF, Choy KW, Chan AML. Wong CW, et al. Among authors: cao y. Autism Res. 2018 Aug;11(8):1098-1109. doi: 10.1002/aur.1950. Epub 2018 Apr 2. Autism Res. 2018. PMID: 29608813 Free PMC article.

7

Characteristics and mode of inheritance of pathogenic copy number variants in prenatal diagnosis.

Chau MHK, Cao Y, Kwok YKY, Chan S, Chan YM, Wang H, Yang Z, Wong HK, Leung TY, Choy KW. Chau MHK, et al. Among authors: cao y. Am J Obstet Gynecol. 2019 Nov;221(5):493.e1-493.e11. doi: 10.1016/j.ajog.2019.06.007. Epub 2019 Jun 14. Am J Obstet Gynecol. 2019. PMID: 31207233

8

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: cao y. 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.

9

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.

Cao Y, Tokita MJ, Chen ES, Ghosh R, Chen T, Feng Y, Gorman E, Gibellini F, Ward PA, Braxton A, Wang X, Meng L, Xiao R, Bi W, Xia F, Eng CM, Yang Y, Gambin T, Shaw C, Liu P, Stankiewicz P. Cao Y, et al. Genome Med. 2019 Jul 26;11(1):48. doi: 10.1186/s13073-019-0658-2. Genome Med. 2019. PMID: 31349857 Free PMC article.

10

Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis.

Choy KW, Wang H, Shi M, Chen J, Yang Z, Zhang R, Yan H, Wang Y, Chen S, Chau MHK, Cao Y, Chan OYM, Kwok YK, Zhu Y, Chen M, Leung TY, Dong Z. Choy KW, et al. Among authors: cao y. Front Genet. 2019 Aug 16;10:761. doi: 10.3389/fgene.2019.00761. eCollection 2019. Front Genet. 2019. PMID: 31475041 Free PMC article.

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