Dr. Kwok Ka Yin, Yvonne

1

Cell-free DNA test for fetal chromosomal abnormalities in multiple pregnancies Kwan AHW, Gil MM, Xue S, Kwok YKY, Lau D, Fung J, Chan A, Choy KW, Leung TY, Poon LC Acta Obstet Gynecol Scand. 2024 Sep;103(9):1799-1807

2

Amniotic fluid gamma-glutamyl transferase for prediction of biliary atresia in cases of non-visualisation of the fetal gallbladder: a retrospective study using a validated analytical platform and local reference rang Cheung TYT, Wong NKL, Sahota DS, Subramaniam SR, Lau SL, Zhu X, Lui WT, Chan EKW, Kwok YKY, Choy KW, Leung TY, Chan MHM, Wong FCK, Ting YH Hong Kong Med J. 2024 Jun;30(3):218-226

3

Prenatal diagnosis of polycystic kidney caused by biallelic hypomorphic variants in the PKD1 gene Zheng Y, Wong L, Kwan AHW, Dong Z, Kwok KY, Choy KW, Dai H, Cao Y Prenat Diagn. 2024 Feb;44(2):247-250

4

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 PKF, Ng CF, Chung CHS, Mak JSZM, Leung TY, Chung JPW, Morton CC, Choy KW Hum Genet. 2023 Mar;142(3):363-377

5

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

6

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 YMI, Kwok YK, Leung TY, Morton C, Choy KW Genet Med. 2021 Jul;23(7):1225-1233

7

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

8

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

9

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

10

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

11

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

12

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

13

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

14

Recent Advances in the Noninvasive Prenatal Testing for Chromosomal Abnormalities Using Maternal Plasma DNA Lau TK, Zhu X, Kwok YKY, Leung TY, Choy KW Journal of Fetal Medicine, 2020 Mar;7(1):17-23

15

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, Pietilä S, Zhu Y, Choy KW J Vis Exp. 2019 Sep 16;(151):e59963 (8 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

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

18

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 AKW, 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

19

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

20

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

21

Diagnostic accuracy of the BACs-on-Beads™ assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series. Choy K, Kwok Y, Cheng Y, Wong K, Wong H, Leung K, Suen K, Adler K, Wang C, Lau T, Schermer M, Lao T, Leung TY. BJOG 2014; 121:1245-52.

22

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

23

先天性心臟病患兒22q11微缺失的定量螢光聚合酶鏈反應檢測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

24

22q11 Microdeletion Test in Patients with Congenital Heart Defects by Quantitative Fluorescent PCR.先天性心臟病患兒22q11微缺失的定量螢光聚合酶鏈反應檢測 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

Dr. Kwok Ka Yin, Yvonne

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