Dr. KWOK Ka Yin, YvonneCurrent Position:
Scientific Officer
Office Phone:
(852)?3505 1538
Email:
kky254@ha.org.hk
Qualifications:
Ph.D

Selected Publications
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 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
4 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
5 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
6 Noninvasive prenatal sequencing for multiple Mendelian monogenic disorders among fetuses with skeletal dysplasia or increased nuchal translucency
Yan H, Zhu X, Chen J, Cao Y, Kwok YKY, Chen Z, Leung TY, Chen M, Choy KW
Prenat Diagn. 2020 Oct;40(11):1459-1465
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 YKY, 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 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 YKY, Jiang Y, Pursley AN, Chung JPW, Hong Yan, Kristiansen K, Yang H, Pi?a-Aguilar RE, Leung TY, Cheung SW, Morton CC, Choy KW, Chen ZJ
Am J Hum Genet. 2019 Dec 5;105(6):1102-1111
13 Practical Considerations in Providing Preimplantation Genetic Testing for Aneuploidies (PGT-A) (REVIEW)
Yeung QSY, Zhang YX, Chung JPW, Kwok YKY, Gui B, Choy KW, Li TC
Fertility and Reproduction, 1(1), May 2019, 1-9
14 A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
Wang H, Zhu X, Gui B, Cheung WC, Shi M, Yang Z, Kwok YKY, Lim R, Pietil? S, Zhu Y, Choy KW
J Vis Exp. 2019 Sep 16;(151):e59963 (8 pages)
15 Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Gui B, Zhang Y, Liang B, Kwok YKY, Lui WT, Yeung QSY, Kong L, Xuan L, Chung JPW, Choy KW
J Vis Exp. 2019 Aug 25;(150):e59273 (9 pages)
16 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 YKY, Zhu Y, Chen M, Leung TY, Dong Z
Front Genet. 2019 Aug; volume 10:761 (14 pages)
17 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
J Assist Reprod Genet. 2019 Aug;36(8):1609-1621?
18 Practical Considerations in Providing Preimplantation Genetic Testing for Aneuploidies (PGT-A)
Yeung QSY, Zhang YX, Chung JPW, Kwok YKY, Gui B, Choy KW, Li TC
Fertility and Reproduction, 1(1), May 2019, 1-9
19 Homology-independent multiallelic disruption via CRISPR/Cas9-based knock-in yields distinct functional outcomes in human cells
Zhang C, He X, Kwok YKY, Wang F, Xue J, Zhao H, Suen KW, Wang CC, Ren J, Chen GG, Lai PB, Li J, Xia Y, Chan AM, Chan WY, Feng B
BMC Biol. Dec 2018, 16:151, 17 pages
20 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 CWC, Kwok YKY, Yang H, Leung TY, Morton CC, Cheung SW, Choy KW
Genet Med. 2018 Jul;20(7):697-707
21 Women’s preference for non-invasive prenatal DNA testing versus chromosomal microarray after screening for Down syndrome: a prospective study
Cheng YKY, Leung WC, Leung TY, Choy KW, Chiu RWK, Lo TK, Kwok YKY, Sahota DS
BJOG. 2018 Mar;125(4):451-459
22 Validation of a high-throughput and robust technique: BACs-on-beads assay (KaryoLite BoBs) for pre-implantation aneuploidy screening
Kong GWS, Ma Y, Ou J, Kwok YKY, Wang W, Yeung QSY, Wong CKM, Li Q, Xu W, Lu W, Li H, Li TC, Choy KW
Taiwan J Obstet Gynecol. 2017 Aug;56(4):514-520
23 Identification of fragile X pre-mutation carriers in the Chinese obstetric population using a robust FMR1 polymerase chain reaction assay: implications for screening and prenatal diagnosis
Cheng Y KY , Lin CSW, Kwok YKY, Chan YM , Lau TK , Leung TY , Choy KW
Hong Kong Med J. 2017 Apr;23(2):110-6
24 Validation of a Robust PCR-Based Assay for Quantifying Fragile X CGG Repeats.
Kwok YKY, Wong CKM, Lo FM, Kong GWS, Moore JK, Wu S, Lam STS, Schermer M, Leung TY, Choy KW
Clin Chim Acta Mar 2016;456(2016): 137 – 143
25 LncRNA Dum Interacts with Dnmts to Regulate Dppa2 Expression during Myogenic Differentiation and Muscle Regeneration.
Wang LJ, Zhao Y, Bao X, Zhu X, Kwok YKY, Sun K, Chen XN, Huang Y, Jauch R, Esteban MA, Sun H, Wang HT
Cell Res 2015;25(3): 335 - 350
26 BACs-on-beads A New Robust and Rapid Detection Method For Prenatal Diagnosis.
Choy KW, Chen Y, Sun XF, Kwok YKY, Leung TY
Expert Rev Mol Diagn 2014;14(3): 273 - 280
27 Diagnostic Accuracy of the Bacs-on-Beads ? Assay Versus Karyotyping for Prenatal Detection of Chromosomal Abnormalities: A Retrospective Consecutive Case Series.
Choy KW, Kwok YKY, Cheng YKY, Wong CKM, Wong HK, Leung KO , Suen AKW, Adler K, Wang CC, Lau TK, Schermer M, Lao TTH, Leung TY
BJOG 2014;121(10): 1245 - 1252
28 Single Fetal Cells for Non-Invasive Prenatal Genetic Diagnosis: Old Myths New Prospective.
Chan WK, Kwok YKY, Choy KW, Leung TY, Wang CC
Medical Journal of Obstetrics and Gynecology 2013;1(1): 1004
29 Suppression of Malignancy by Smad3 in Mouse Embryonic Stem Cell Formed Teratoma.
Li P, Chen Y, Meng XM, Kwok YKY, Huang XR, Choy KW, Wang CC, Lan HY, Yuan P
Stem Cell Rev and Rep 2013;9(5): 709 - 720
30 The Detection of Mosaicism by Prenatal BoBs TM.
Cheng YKY, Wong CKM, Wong HK, Leung Kwok On, Kwok YKY, Suen AKW, Wang CC, Leung TY, Choy KW
Prenatal Diag 2013;33(1): 42 - 49
31 先天性心脏病患儿22q11微缺失的定量萤光聚合酶链反应检测22q11 Microdeletion Test in Patients with Congenital Heart Defects by Quantitative Fluorescent PCR.
Chen Y, Mao J, Kwok YKY, Kan HJ, Li HB, Liu MJ, Sun Y, Yan WH, Li H, Choy KW
Chin J Med Genet 2010;27(5): 571 - 575



O&G CUHK2022-01-27T16:41:37+08:00