| 1 | Trio-Based Low-Pass Genome Sequencing Reveals Characteristics and Significance of Rare Copy Number Variants in Prenatal Diagnosis Chau MHK, Qian J, Chen Z, Li Y, Zheng Y, Tse WT, Kwok YK, Leung TY, Dong Z, Choy KW Front Genet. 2021 Sep 20;12:742325 |
| 2 | Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics Dong Z, Chau MHK, Zhang Y, Yang Z, Shi M, Wah YM, Kwok YK, Leung TY, Morton C, Choy KW Genet Med. 2021 Jul;23(7):1225-1233 |
| 3 | The role of chromosomal microarray and exome sequencing in prenatal diagnosis Chau MHK, Choy KW Curr Opin Obstet Gynecol. 2021 Apr 1;33(2):148-155 |
| 4 | Clinical utility of expanded non-invasive prenatal screening and chromosomal microarray analysis in high-risk pregnancy Zhu X, Chen M, Wang H, Guo Y, Chau MHK, Yan H, Cao Y, Kwok YKY, Chen J, Hui ASY, Zhang R, Meng Z, Zhu Y, Leung TY, Xiong L, Kong X, Choy KW Ultrasound Obstet Gynecol. 2021 Mar;57(3):459-465 |
| 5 | Deciphering the complexity of simple chromosomal insertions by genome sequencing Dong Z, Chau MHK, Zhang Y, Dai P, Zhu X, Leung TY, Kong X, Kwok YK, Stankiewicz P, Cheung SW, Choy KW Hum Genet. 2021 Feb;140(2):361-380 |
| 6 | The role of chromosomal microarray analysis among fetuses with normal karyotype and single system anomaly or nonspecific sonographic findings Hui ASY, Chau MHK, Chan YM, Cao Y, Kwan AHW, Zhu X, Kwok YKY, Chen Z, Lao TTH, Choy KW, Leung TY Acta Obstet Gynecol Scand. 2021 Feb;100(2):235-243 |
| 7 | Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review Zhu X, Lam DYM, Chau MHK, Xue S, Dai P, Zhao G, Cao Y, Cheung SWH, Kwok YKY, Choy KW, Kong X, Leung TY Genes (Basel). 2020 Dec 24;12(1):E11 |
| 8 | Low-pass genome sequencing: a validated method in clinical cytogenetics Chau MHK, Wang H, Lai Y, Zhang Y, Xu F, Tang Y, Wang Y, Chen Z, Leung TY, Chung JPW, Kwok YK, Chong SC, Choy KW, Zhu Y, Xiong L, Wei W, Dong Z Hum Genet. 2020 Nov;139(11):1403-1415 |
| 9 | The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome Chau MHK, Lam YKD, Zhu X, Kwok YKY, Ting YH, Chan WP, Shi M, Cheung WH, Lau TK, Ville Y, Leung TY, Choy KW Prenat Diagn. 2020 Jul;40(8):1005-1012 |
| 10 | Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis Wang H, Dong Z, Zhang R, Chau MHK, Yang Z, Tsang K, Wong HK, Gui B, Meng Z, Xiao K, Zhu X, Wang Y, Chen S, Leung TY, Cheung SW, Kwok YK, Morton CC, Zhu Y, Choy KW Genet Med, 2020 Mar;22(3):500-510 |
| 11 | 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 American Journal of Obstetrics and Gynecology 2019;221(5):493e1-e11. |
| 12 | Clinical utility of noninvasive prenatal screening for pathogenic copy number variants REPLY Chau MHK, Sahota DS, Choy KW Am J Obstet Gynecol. 2019 Dec;221(6):661-662. |
| 13 | 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 Front Genet. 2019 Aug; volume 10:761 (14 pages) |