Professor CHOY Kwong Wai, Richard

CHOY, Kwong Wai Richard

Current Position:
Associate Professor

Office Phone:
(852) 3505 3099


BSc (Brad.); MSc(Med) (Birm.); PhD (CUHK)

Other Positions:
Deputy Director, Prenatal Genetic Diagnosis Centre, CUHK
Director, Pre-implantation Genetic Diagnosis Laboratory, CUHK
Deputy Director, CUHK-Utrecht Joint Centre for Language, Mind and Brain, CUHK
Scientific Officer (Medical), New Territories East Cluste r, Hospital Authority
Deputy Programme Director, MSc in Medical Genetics, CUHK

Dr. Choy’s main research interests include:
(1) Development of novel molecular diagnostic strategies and innovative applications of molecular analysis tools in prenatal diagnosis. My current research focuses on the development of the genomic technologies including chromosomal microarray analysis (CMA) and Low-pass whole genome sequencing (Low-pass WGS) for prenatal diagnosis and reproductive medicine.
(2) Developmental genomic: Applies state-of-the-art technologies in genomic medicine to study the chromosome structure variants (including copy number variation and chromosomal re-arrangements) in human and to study the function of human genome by understanding the molecular mechanisms of normal and abnormal fetal development with particular focus on birth defects and neurogenetics.

Research Interest:
Genomic medicine; Prenatal and pre-implantation genetic diagnosis; Genetics

Summary of research output:

  • Total publication: 135
  • Total citation: 2,524
  • H-index 30
1Consensus interpretation of the p.Met34Thr and p.Val37Ilevariants in GJB2 by the ClinGen Hearing Loss Expert Panel
Shen J, Oza AM, Castillo Del, 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, Choy KW, 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.
Genet Med. 2019 Nov;21(11):2442-2452
2A 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 KY, Lim R, Pietilä S, Zhu Y, Choy KW
J Vis Exp. 2019 Sep 16;(151):8 pages
3Prenatal 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)
4Semiconductor 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)
5Development of Coupling Controlled Polymerizations by Adapter-ligation in Mate-pair Sequencing for Detection of Various Genomic Variants in One Single Assay
Dong Z, Zhao X, Li Q, Yang Z, Xi Y, Alexeev A, Shen H, Wang O, Ruan J, Ren H, Wei H, Qi X, Li J, Zhu X, Zhang Y, Dai P, Kong X, Kirkconnell K, Alferov O, Giles S, Yamtich J, Kermani B, Dong C, Liu P, Mi Z, Zhang W, Xu X, Drmanac R, Choy KW, Jiang Y
DNA Res. 2019 Aug 1;26(4):313-325
6A 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 
7The high-risk HPV oncogene E7 upregulates miR-182 expression through the TGF-β/Smad pathway in cervical cancer
Chen J, Deng Y, Ao L, Song Y, Xu Y, Wang CC, Choy KW, Chung TKH, Du Q, Sui Y, Yang T, Yang J, Li H, Zou C, Tang T
Cancer Lett. 2019 Sep 24;460:75-85
8Analysis of fragment size distribution of cell-free DNA: A potential non-invasive marker to monitor graft damage in living-related liver transplantation for inborn errors of metabolism
Ng H, Zhu X, Xuan L, Long Y, Mao Y, Shi Y, Sun L, Liang B, Scaglia F, Choy KW, Zhu Z
Mol Genet Metab. 2019 May;127(1):45-50
9Non-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
Nat Med. 2019 Mar;25(3):439-447
10Practical 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
11Aberrant miR-145-5p/β-catenin signal impairs osteocyte function in adolescent idiopathic scoliosis
Zhang J, Chen H, Leung RKK, Choy KW, Lam TP, Ng BKW, Qiu Y, Feng JQ, Cheng JCY, Lee WYW
FASEB J. 2018; 6537-6549
12MicroRNA-132 directs human periodontal ligament-derived neural crest stem cell neural differentiation
Ng TK, Yang Q, Fortino VR, Lai NY, Carballosa CM, Greenberg JM, Choy KW, Pelaez D, Pang CP, Cheung HS
J Tissue Eng Regen Med. 2019 Jan;13(1):12-24
13Identification 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
Autism Res. 2018 Aug;11(8):1098-1109
14Quality of life and symptom measurement in Chinese women with pelvic floor disorders: validation study of Pelvic Floor Distress Inventory and Pelvic Floor Impact Questionnaire.
Chan SS, Pang SM, Lai BP, Choy KW
Hong Kong Med J. 2017 Jun;23 Suppl 2(3):38-41
15Identification 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
Genet Med. 2018 Jul;20(7):697-707
16Target-enriched massively parallel sequencing for genetic diagnosis of hereditary hearing loss in patients with normal array CGH result
Choy KW, Cao Y, Lam STS, Lo FM, Morton CC, Leung TY
Hong Kong Med J. 2018 Jun;24 Suppl 3(3):11-14
17Balanced Chromosomal Rearrangement Detection by Low-Pass Whole-Genome Sequencing
Dong Z, Ye L, Yang Z, Chen H, Yuan J, Wang H, Guo X, Li Y, Wang J, Chen F, Cheung SW, Morton CC, Jiang H, Choy KW
Curr Protoc Hum Genet. 2018 Jan 24;96:8.18.1-8.18
18Histological and microRNA Signatures of Corneal Epithelium in Keratoconus
Wang YM, Ng TK, Choy KW, Wong HK, Chu WK, Pang CP, Jhanji V.
J Refract Surg. 2018 Mar 1;34(3):201-211
19Women’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 KY, Sahota DS
BJOG. 2018 Mar;125(4):451-459
20The CCCTC-binding factor (CTCF)-forkhead box protein M1 axis regulates tumour growth and metastasis in hepatocellular carcinoma
Zhang B, Zhang Y, Zou X, Chan AW, Zhang R, Lee TK, Liu H, Lau EY, Ho NP, Lai PB, Cheung YS, To KF, Wong HK, Choy KW, Keng VW, Chow LM, Chan KK, Cheng AS, Ko BC
J Pathol. 2017 Dec;243(4):418-430
21Interactome and reciprocal activation of pathways in topical mesenchymal stem cells and the recipient cerebral cortex following traumatic brain injury
Lam PK, Wang KKW, Lo AWI, Tong CSW, Ching DWC, Wong HK, Yang Z, Kong T, Lo KKY, Choy KW, Lai PBS, Wong GKC, Poon WS
Sci Rep. 2017 Jul 10;7(1):5017
22Topical Application of Mesenchymal Stromal Cells Ameliorated Liver Parenchyma Damage After Ischemia-Reperfusion Injury in an Animal Model
Lam PK1,, Chong CCN, Lo AWI, Chan AWH, Tong CSW, Chin DWC, Wong HK, Choy KW, Fung AK, Wang YX, To KF, Lai PBS
Transplant Direct. 2017 May 11;3(6):e160
23Cardiomyogenesis of periodontal ligament-derived stem cells by dynamic tensile strain
Pelaez D, Acosta Torres Z, Ng TK, Choy KW, Pang CP, Cheung HS
Cell Tissue Res. 2017 Feb;367(2):229-241
24Validation 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
25Longitudinal follow-up of levator ani muscle avulsion: does a second delivery affect it?
Chan SSC, Cheung RYK, Lee LL, Choy KW, Chung TKH
Ultrasound Obstet Gynecol. 2017 Jul;50(1):110-115
26Copy-Number Variants Detection by Low-Pass Whole-Genome Sequencing
Dong Z, Xie, W, Chen, H, Xu, J, Wang, H, Li, Y, Wang, J, Chen, F, Choy KW, Jiang  H
Curr Protoc Hum Genet  2017 Jul 11;94:8 17 1-8 17 16
27Chromosome copy number variants in fetuses with syndromic malformations
Wang H, Chau MHK, Cao Y, Kwok KY, Choy KW
Birth Defects Res. Jun 2017 ;109(10):725-733
28Identification 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
29Combined Count- and Size-Based Analysis of Maternal Plasma DNA for Noninvasive Prenatal Detection of Fetal Subchromosomal Aberrations Facilitates Elucidation of the Fetal and/or Maternal Origin of the Aberrations
Yu SC, Jiang P, Allen Chan KC, Faas BH, Choy KW, Leung WC, Leung TY, Dennis Lo YM, Chiu RW
Clin Chem. 2017 Feb;63(2):495-502
30Microrna-183 Suppresses Cancer Stem-like Cell Properties In EBV-Associated Nasopharyngeal Carcinoma
Cheung CC, Lun SW, Chung GT, Chow C, Lo C, Choy KW, Lo KW
BMC Cancer Jul 2016; 19;16:495 (page 1-9)
31Prenatal detection of 10q22q23 duplications: dilemmas in phenotype prediction
Kong GWS, Cao Y, Huang J, Cheng KY, Pursley AN, Rosenfeld JA, Edwards J G, Chan YM, Cheung SW, Leung TY, Choy KW
Prenat Diagn. 2016 Dec;36(13):1211-1216
32Debates on Fetal Fraction Measurement and DNA-based Noninvasive Prenatal Screening: Time for Standardisation.
Wataganara T, Bui TH, Choy KW, Leung TY
BJOG Sep 2016;123(S3): 31 – 35
33Low-pass Whole-genome Sequencing in Clinical Cytogenetics: A Validated Approach
Dong Z, Zhang J, Hu P, Chen H, Xu J, Tian Q, Meng L, Ye Y, Wang J, Zhang M, Li Y, Wang HL, Yu S, Chen F, Xie J, Jiang H, Wang W, Choy KW, Xu Z
Genet Med Sep 2016;18(9): 940 – 948
34A γA-Crystallin Mouse Mutant Secc with Small Eye, Cataract and Closed Eyelid.
Cheng MH, Tam CN, Choy KW, Tsang WH, Tsang SL, Pang CCP, Song YQ, Sham MH
PLos ONE Aug 2016;11(8): e0160691 (1 – 15)
35Local Administration of siRNA through Microneedle: Optimization, Bio-distribution, Tumor Suppression and Toxicity.
Tang T, Deng Y, Chen J, Zhao Y, Yue RF, Choy KW, Wang CC, Du Q, Xu Y, Han L, Chung TKH
Sci Rep Jul 2016;6 (30430): 1 – 8
36Maternal Somatic Mosaicism of FOXF1 Mutation Causes Recurrent Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins in Siblings.
Luk HM, Tang T, Choy KW, Tong TMF, Wong OK, Lo FM
Am J Med Genet Part A Jul 2016;170(7): 1942 – 1944
37Validation 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
38Transdermal Delivery of siRNA through Microneedle Array.
Deng Y, Chen J, Zhao Yi, Yan X, Zhang L, Choy KW, Hu J, Sant HJ, Gale BK, Tang T
Sci Rep Feb 2016;6 (21422): 1 – 8
39MiR-449a Affects Epithelial Proliferation during the Pseudoglandular and Canalicular Phases of Avian and Mammal Lung Development.
Sanford EL, Choy KW, Donahoe PK, Tracy AA, Hila R, Loscertales M, Longoni M
PLos ONE Feb 2016;11(2): 149425
40Effect of Assisted Reproductive Technology on Fetal Brain Development Assessed by Prenatal Ultrasonography.
Yin L, Xu Y, Li H, Ling C, Choy KW, Xia F, Deng X
J Perinat Med 2015;43(1): 103 - 109
41Prenatal Diagnosis of 24 Cases of Microduplication 22q11.2: An Investigation of Phenotype-genotype Correlations.
Dupont C, Grati F, Choy KW, Jaillard S, Toutain J, Maurin ML, Martinez-Conejero JA, Beneteau C, Coussement A, Molinagomes D, Horelli-Kuitunen N, Aboura A, Tabet AC, Besseau-Ayasse J, Bessieres GB, Simoni G, Ayala G, Benzacken B, Vialard F
Prenatal Diag 2015;35(1): 35 - 43
42Prevalence of Recurrent Pathogenic Microdeletions and Microduplications in Over 9500 Pregnancies.
Grati F, Gomes DM, Ferreira JCPB, Dupont C, Alesi V, Gouas L, Horelli-Kuitunen N, Choy KW, Garcia-Herrero S, Gonzalez de la Vega A, Piotrowski K, Genesio R, Queipo G, Malvestiti B, Herve B, Benzacken B, Novelli A, Vago P, Piippo K, Leung TY, Maggi F, Quibel T, Tabet AC, Simoni G, Vialard F
Prenatal Diag 2015;35(8): 801 - 809
43Signature Micrornas in Human Cornea Limbal Epithelium.
Teng YF, Wong HK, Jhanji V, Chen JH, Young AL, Zhang MZ, Choy KW, Mehta JS, Pang CP, Yam GHF
Funct Integr Genomics 2015;15(3): 277 - 294
44SNaPshot Reveals High Mutation and Carrier Frequencies of 15 Common Hearing Loss Mutants in a Chinese Newborn Cohort.
Chen Y, Cao Ye, Li HB, Mao J, Liu MJ, Liu YH, Wang BJ, Jiang D, Zhu Q, Ding Y, Wang W, Li H, Choy KW
Clin Genet 2015;87(5): 467 - 472
45TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis.
Wu N, Ming X, Xiao J, Wu Z, Chen X, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev ZS, Liu S, Yang N, AI-Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Chen Y, Zhang T, Zhang J, Choy KW, Wang J, Wang Q, Liu S, Zhou W, Guo J, Wang Y, Zhang C
N Engl J Med 2015;372(4): 341 - 350
46Up-regulation of Cathepsin G in the Development of Chronic Postsurgical Pain.
Liu X, Tian Y, Meng Z, Chen Y, Ho IHT, Choy KW, Lichtner P, Wong SH, Yu J, Gin T, Wu WKK, Cheng CHK, Chan MTV
Anesthesiology 2015;123(4): 838 - 850
47A Patient with Five Chromosomal Rearrangement and a 2q31.1 Microdeletion.
Wang T, Mao J, Liu MJ, Choy KW, Li HB, Cram DS, Li H, Chen Y
Clin Chim Acta 2014;2014(430C): 129 - 133
48A Pilot Study of Urine Cytokines in Ketamine-associated Lower Urinary Tract Symptoms.
Cheung RYK, Lee JHS, Chan SSC, Lui WT, Choy KW
Int Urogynecol J 2014;25(12): 1715 - 1719
49A Robust Approach for Blind Detection of Balanced Chromosomal Rearrangements with Whole-Genome Low-Coverage Sequencing.
Dong Z, Jiang LP, Yang CC, Hu H, Wang XH, Chen HX, Choy KW, Hu HM, Dong YL, Hu B, Xu JC, Long Y, Cao SJ, Chen H, Wang WJ, Jiang H, Xu FP, Yao H, Xu X, Liang ZQ
Hum Mutat 2014;35(5): 625 - 636
50Additive Effect of Aldose Reductase Z-4 Microsatellite Polymorphism and Glycaemic Control on Cataract Development in Type 2 Diabetes.
Wang Y, Luk AOY, Ng MCY, Pang CCP, Lam V, Lee SC, Lam DSC, Choy KW, Ma RCW, So WY, Chan JCN
Diabetes Complicat 2014;28(2): 147 - 151
51BACs-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
52Diagnostic 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
53Genetic Diagnosis of Autism Spectrum Disorders: The Opportunity and Challenge in the Genomics Era.
Jiang YH, Wang Y, Xiu X, Choy KW, Pursley AN, Cheung SW
Crit Rev Clin Lab Sci 2014;51(5): 249 - 262
54Is High Fetal Nuchal Translucency Associated with Submicroscopic Chromosomal Abnormalities on Array CGH?
Huang J, Poon LC, Akolekar R, Choy KW, Leung TY, Nicolaides KH
Ultrasound Obst Gyn 2014;43(6): 620 - 624
55Nanocomposite-strengthened Dissolving Microneedles for Improved Transdermal Delivery to Human Skin.
Yan L, Raphael AP, Zhu X, Wang B, Chen W, Tang T, Deng Y, Sant HJ, Zhu G, Choy KW, Gale BK, Prow TW, Chen X
Adv Healthc Mater 2014;3(4): 555 - 564
56Non-Invasive Prenatal Testing for Fetal Chromosomal Abnormalities by Low-Coverage Whole-Genome Sequencing of Maternal Plasma DNA: Review of 1982 Consecutive Cases in a Single Center.
Lau TK, Cheung SW, Lo PSS, Pursley AN, Chan MK, Jiang F, Zhang H, Wang W, Jong LFJ, Yuen OKC, Chan HYC, Chan WSK, Choy KW
Ultrasound Obst Gyn 2014;43(3): 254 - 264
57Performance of Chromosomal Microarray for Patients with Intellectual Disabilities/Developmental Delay, Autism, and Multiple Congenital Anomalies in a Chinese Cohort.
Chong WS, Lo FM, Lam STS, Wang CC, Luk HM, Leung TY, Choy KW
Mol Cytogenet 2014;7(34): 1 - 6
58Prenatal Diagnosis of Maternally Inherited X-linked Opitz G/BBB Syndrome by Chromosomal Microarray in a Fetus with Complex Congenital Heart Disease.
Cheng YKY, Huang J, Law KM, Chan OYM, Leung TY, Choy KW
Clin Chim Acta 2014;436C(2014): 140 - 142
59PSCC: Sensitive and Reliable Population-Scale Copy Number Variation Detection Method Based on Low Coverage Sequencing.
Li XC, Chen SP, Xie WW, Vogel I, Choy KW, Chen F, Christensen R, Zhang CL, Ge HJ, Jiang HJ, Yu C, Huang F, Jiang H, Zhang XQ
PLos ONE 2014;9(1): e85096
60Recurrent Structural Malformations Identified among Mowat¡VWilson Syndrome Fetuses.
Zhou Y, Huang J, Cheng YKY, Leung TY, Pooh RK, Lo FM, Choy KW
Prenatal Diag 2014;34(3): 296 - 298
61Therapeutic Potentials of Gene Silencing by RNA Interference: Principles, Challenges, and New Strategies.
Deng Y, Wang CC, Choy KW, Du Q, Chen J, Wang Q, Li L, Chung TKH, Tang T
Gene 2014;538: 217 - 227
62Constitutive Activation of Distinct NF-£MB Signals in EBV-associated Nasopharyngeal Carcinoma
Chung GTY, Lou WPK, Chow C, To KF, Choy KW, Leung AWC, Tong CYK, Yuen WF, Ko CW, Yip TTC, Busson P, Lo KW
J Pathol 2013;231(3): 311 - 322
63First-trimester Cystic Hygroma: Relationship of Nuchal Translucency Thickness and Outcomes.
Huang J, Leung TY, Choy KW
Obstet Gynecol 2013;121(1): 192 - 193
64MicroRNA-182 Plays an Onco-miRNA Role in Cervical Cancer.
Tang T, Wong HK, Gu W, Yu MMY, To KF, Wang CC, Wong YF, Cheung TH, Chung TKH, Choy KW
Gynecol Oncol 2013;129(1): 199 - 208
65Nicotine Alters MicroRNA Expression and Hinders Human Adult Stem Cell Regenerative Potential.
Ng TK, Carballosa CM, Pelaez D, Wong HK, Choy KW, Pang CP, Cheung HS
Stem Cells Dev 2013;22(5): 781 - 790
66Noninvasive Prenatal Molecular Karyotyping from Maternal Plasma.
Yu JCY, Jiang PY, Choy KW, Chan AKC, Won HS, Leung WC, Lau ET, Tang MHY, Leung TY, Lo DYM, Chiu RWK
PLos ONE 2013;8(4): e60968
67Responsiveness of the Pelvic Floor Distress Inventory and Pelvic Floor Impact Questionnaire in Women Undergoing Treatment for Pelvic Floor Disorders.
Chan SSC, Cheung RYK, Lai BPY, Lee LLL, Choy KW, Chung TKH
Int Urogynecol J 2013;24(2): 213 - 221
68Role of B Lymphoma Mo-MLV Insertion Region 1 in the Oncogenic Behavior of Retinoblastomas.
Ren RJ, Liu WW, Huang L, Liu DTL, Choy KW, Shi JT, Zhao JY, Zhao BW, Guan M, Shields CL, Pang CP, Li B, Yam GHF
Mol Vis 2013;19: 561 - 574
69Secondary Findings from Non-invasive Prenatal Testing for Common Fetal Aneuploidies by Whole Genome Sequencing as A Clinical Service.
Lau TK, Jiang FM, Stevenson RJ, Lo TK, Chan LW, Chan MK, Lo SPS, Wang W, Zhang H, Chen F, Choy KW
Prenatal Diag 2013;33(6): 602 - 608
70Single 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
71Suppression 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
72The 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
Pan M, Choy KW, Liao C, Lau TK
Chin J Med Genet 2012;29(5): 562 - 565
74CD44+ Cancer Stem-like Cells in EBV-associated Nasopharyngeal Carcinoma.
Lun SWM, Cheung ST, Cheung PFY, To KF, Woo KS, Choy KW, Chow C, Cheung CCM, Chung GTY, Cheng ASH, Ko CW, Tsao GSW, Busson P, Ng MHL, Lo KW
PLos ONE 2012;7(12): e52426
75Extensive Genetic Diversity and Substructuring among Zebrafish Strains Revealed through Copy Number Variant Analysis.
Brown KH, Dobrinski KP, Lee AS, Gokcumen O, Mills RE, Shi XH, Chong WS, Chen HJY, Yoo P, David S, Peterson SM, Raj T, Choy KW, Stranger BE, Williamson RE, Zon LI, Freeman JL, Lee C
Proc Natl Acad Sci USA 2012;109(2): 529 - 534
76First Trimester Serum Markers Stability during Sample Transportation from the Obstetrical Site to the Screening Laboratory.
Sahota DS, Pooh RK, Choy KW, Leung TY, Lau TK
J Matern Fetal Neonatal Med 2012;25(7): 966 - 969
77In Vitro Amyloid Aggregate Forming Ability of TGFBI Mutants that Cause Corneal Dystrophies.
Yam GHF, Wang KJ, Jhanji V, Choy KW, Baum L, Pang CP
Invest Ophthalmol Vis Sci 2012;53(9): 5890 - 5898
78Inhibition of NOTCH3 Signalling Significantly Enhances Sensitivity to Cisplatin in EBV-associated Nasopharyngeal Carcinoma.
Man CH, Lun SWM, Hui JWY, To KF, Choy KW, Chan AWH, Chow C, Chung GTY, Tsao GSW, Yip TTC, Busson P, Lo KW
J Pathol 2012;226(3): 471 - 481
79Molecular Genetics in Fetal Neurology.
Huang J, Wah IYM, Pooh RK, Choy KW
Semin Fetal Neona M 2012;17(6): 341 - 346
80Prenatal Detection of Aneuploidy and Imbalanced Chromosomal Arrangements by Massively Parallel Sequencing.
Dan S, Chen F, Choy KW, Jiang FM, Lin JR, Xuan ZL, Wang W, Chen SP, Li XC, Jiang H, Leung TY, Lau TK, Su Y, Zhang WY, Zhang XQ
PLos ONE 2012;7(2): e27835
81Prevalence of Levator Ani Muscle Injury in Chinese Women after First Delivery.
Chan SSC, Cheung RYK, Yiu AKW, Lee LLL, Pang WL, Choy KW, Leung TY, Chung TKH
Ultrasound Obst Gyn 2012;39(6): 704 - 709
82Current Limitations and Difficulties in Application of Microarray Comparative Genomic Hybridization in Prenatal Diagnosis. 採用微陣列 - 比較基因組雜交進行產前診斷的局限性和困難
Chen Y, Choy KW
Chin J Med Genet 2011;28(1): 47 - 51
83A Novel 15bp micro-Duplication in SF-1 Gene Showing Diverse Phenotypic Spectrum in a Chinese Family.
Li H, Choy KW, Lei YP, Wang W, Wang HY, Chen Y
J Matern Fetal Neonatal Med 2011;24(1): 132 - 136
84Chinese Validation of Pelvic Floor Distress Inventory and Pelvic Floor Impact Questionnaire.
Chan SSC, Cheung RYK, Yiu AKW, Li JCM, Lai BPY, Choy KW, Chung TKH
Int Urogynecol J 2011;22(10): 1305 - 1312
85EZH2-Mediated Concordant Repression of Wnt Antagonists Promotes {beta}-Catenin-Dependent Hepatocarcinogenesis.
Cheng ASL, Lau SSK, Chen YC, Kondo Y, Li SMM, Feng H, Ching AKK, Cheung KF, Wong HK, Tong JHM, Jin HC, Choy KW, Yu J, To KF, Wong N, Huang THM, Sung JJY
Cancer Res 2011;71(11): 4028 - 4039
86Identification of Submicroscopic Chromosomal Aberrations in Fetuses with increased Nuchal Translucency and Apparently Normal Karyotype.
Leung TY, Vogel I, Lau TK, Chong WS, Hyett JA, Petersen OB, Choy KW
Ultrasound Obst Gyn 2011;38(3): 314 - 319
87Interactive Expressions of HtrA1 and VEGF in Human Vitreous Humors and Fetal RPE Cells.
Ng TK, Yam HF, Chen WQ, Lee VYW, Chen H, Chen LJ, Choy KW, Yang Z, Pang CCP
Invest Ophthalmol Vis Sci 2011;52(6): 3706 - 3712
88MicroRNA-145 Regulates Human Corneal Epithelial Differentiation.
Lee S, Teng YF, Wong HK, Ng TK, Huang L, Lei P, Choy KW, Liu YP, Zhang MZ, Lam DSC, Yam HF, Pang CCP
PLos ONE 2011;6(6): e21249
89Urinary Symptoms and Impaired Quality of Life in Female Ketamine Users: Persistence after Cessation of Use.
Cheung RYK, Chan SSC, Lee JHS, Pang WL, Choy KW, Chung TKH
Hong Kong Med J 2011;17(4): 267 - 273
90X-Linked Congenital Hypertrichosis Syndrome Is Associated with Interchromosomal Insertions Mediated by a Human-Specific Palindrome near SOX3.
Zhu HW, Shang DD, Sun M, Choi SJ, Liu Q, Hao JJ, Figuera LE, Zhang F, Choy KW, Ao Y, Liu Y, Zhang XL, Yue FZ, Wang MR, Jin L, Patel PI, Jing T, Zhang X
Am J Hum Genet 2011;88(6): 819 - 826
9122q11 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
92A Novel Mutation of GATA4 in a Familial Atrial Septal Defect.
Chen Y, Mao J, Sun Y, Zhang Q, Cheng HB, Yan WH, Choy KW, Li H
Clin Chim Acta 2010;411(21): 1741 - 1745
93Allelic Imbalance at 13q31 is Associated with Reduced GPC6 in Chinese with Sporadic Retinoblastoma.
Lau CSL, Yu CBO, Wong HK, Fan DSP, Mak HT, Wong KW, Lam DSC, Pang CCP, Choy KW
Br J Ophthalmol 2010;94(3): 357 - 363
94Chinese Validation of Urogenital Distress Inventory and Incontinence Impact Questionnaire Short Form.
Chan SSC, Choy KW, Lai BPY, Pang MW, Yip SK, Lee LLL, Cheung RYK, Yiu AKW, Chung TKH
Int Urogynecol J 2010;21(7): 807 - 812
95Classification of Pathogenic or Benign Status of CNVs Detected by microarray Analysis.
Leung TY, Pooh RK, Wang CC, Lau TK, Choy KW
Expert Rev Mol Diagn 2010;10(6): 717 - 721
96Disseminated Peritoneal Leiomyomatosis After Laparoscopic Supracervical Hysterectomy with Characteristic Molecular Cytogenetic Findings of Uterine Leiomyoma.
Ordulu Z, Cin PD, Chong WS, Choy KW, Lee C, Muto GM, Quade BJ, Morton CC
Genes Chromosomes Cancer 2010;49(12): 1152 - 1160
97Green Tea Catechins and Their Oxidative Protection in the Rat Eye.
Chu KO, Chan KP, Wang CC, Chu NCY, Li WY, Choy KW, Rogers MS, Pang CCP
J Agric Food Chem 2010;58(3): 1523 - 1534
98Identification of a Novel 12p13.3 Amplicon in Nasopharyngeal Carcinoma.
Or YYY, Chung GTY, To KF, Chow C, Choy KW, Tong CYK, Leung AWC, Hui ABY, Tsao GSW, Ng HK, Yip TTC, Busson P, Lo KW
J Pathol 2010;220(1): 97 - 107
99Immunopanning Purification and Long-Term Culture of Human Retinal Ganglion Cells.
Zhang XM, Liu DTL, Chiang WY, Choy KW, Pang CCP, Lam DSC, Yam HF
Mol Vis 2010;16: 2867 - 2872
100MiR-222 Overexpression Confers Cell Migratory Advantages in Hepatocellular Carcinoma through Enhancing AKT Signaling.
Wong QWL, Ching AKK, Chan AWH, Choy KW, To KF, Lai PBS, Wong N
Clin Cancer Res 2010;16(3): 867 - 875
101Novel and Homozygous Best1 Mutations in Chinese Patients with Best Vitelliform Macular Dystrophy.
Wong RLM, Hou P, Choy KW, Chiang WY, Tam POS, Li HT, Chan WM, Lam DSC, Pang CCP, Lai TYY
Retina 2010;30(5): 820 - 827
102Reduced CRYL1 Expression in Hepatocellular Carcinoma Confers Cell Growth Advantages and Correlates with Adverse Patient Prognosis.
Cheng IKC, Ching AKK, Chan TC, Chan AWH, Wong CK, Choy KW, Kwan M, Lai PBS, Wong N
J Pathol 2010;220(3): 348 - 360
103Second-Trimester Detection of Mowat-Wilson Syndrome Using Comparative Genomic Hybridization Microarray Testing.
Choy KW, To KF, Chan AWH, Lau TK, Leung TY
Obstet Gynecol 2010;115(2): 462 - 465
104The Impact of Human Copy Number Variation on a New Era of Genetic Testing.
Choy KW, Setlur SR, Lee C, Lau TK
BJOG 2010;117(4): 391 - 398
105Tyrosinase Gene (TYR) Mutations in Chinese Patients with Oculocutaneous Albinism Type 1.
Liu J, Choy KW, Chan LWL, Leung TY, Tam POS, Chiang WY, Lam DSC, Pang CCP, Lai TYY
Clin Exp Ophthalmol 2010;38(1): 37 - 42
106Urinary Incontinence Should be Added to the Manifestation in Women with Marfan Syndrome.
Chan SSC, Chan DKH, Pang MW, Lam STS, Lao TTH, Choy KW
Int Urogynecol J 2010;21(5): 583 - 587
107Adipose-derived stem cells from pregnant women show higher proliferation rate unrelated to estrogen.
Ng LWC, Yip SK, Wong HK, Yam HF, Liu YM, Lui WT, Wang CC, Choy KW
Hum Reprod 2009;24(5): 1164 - 1170
108Chinese women's preferences for prenatal diagnostic procedure and their willingness to trade between procedures.
Chan OYM, Sahota DS, Leung TY, Choy KW, Chan OK, Lau TK
Prenatal Diag 2009;29(13): 1270 - 1276
109De novo 16p13.11 microdeletion identified by high-resolution array CGH in a fetus with increased nuchal translucency.
Law LW, Lau TK, Fung TY, Leung TY, Wang CC, Choy KW
BJOG 2009;116(2): 339 - 343
110Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.
Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner RJM, Hunter M, James PA, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer IE, Sheffield L, Tan T, White SM, Yeung A, Bowman Z, Ngo C, Choy KW, Cacheux V, Wong L, Amor DJ, Slater HR
J Med Genet 2009;46(2): 123 - 131
111High isoprostane level in cardinal ligament-derived fibroblasts and urine sample of women with uterine prolapse.
Choy KW, Wang CC, Yip SK, Chan SSC
BJOG 2009;116(1): 127 - 128
112Monozygotic Dichorionic Twins Heterokaryotypic for Duplication Chromosome 2q13-q23.3.
Leung WC, Choi H, Lau WL, Ng LKI, Lau ET, Lo FM, Choy KW, Lau TK, Tang MHY, Chin RKH
Fetal Diagn Ther 2009;25(4): 397 - 399
113Prenatal findings and delineation of de novo concurrent partial trisomy 7q(7q31.2 --> qter) and partial monosomy 6q(6q26 --> qter) by high-resolution array CGH.
Choy KW, Chan LW, Tang MHY, Ng LKI, Leung TY, Lau TK
J Matern Fetal Neonatal Med 2009;22(11): 1014 - 1020
114Authentication of nasopharyngeal carcinoma tumor lines.
Chan SYY, Choy KW, Tsao GSW, Tao Q, Tang T, Chung GTY, Lo KW
Int J Cancer 2008;122(9): 2169 - 2171
115EDN1 Lys198Asn is Associated with Diabetic Retinopathy in Type 2 Diabetes.
Li HT, Louey JWC, Choy KW, Liu DTL, Chan WM, Chan OYM, Fung NSK, Fan BJ, Baum LW, Chan JCN, Lam DSC, Pang CCP
Mol Vis 2008;14: 1698 - 1704
116High Isoprostane Level in Cardinal Ligament-Derived Fibroblasts and Urine Sample of Women with Uterine Prolapse.
Choy KW, Liu YM, Chu NCY, Wang CC, Lui WT, Lee LLL, Pang MW, Rogers MS, Yip SK
BJOG 2008;115(9): 1179 - 1183
117Prenatal Screening for Retinoblastoma in Hong Kong.
Lau CSL, Choy KW, Fan DSP, Yu CBO, Wong CY, Lam DSC, Pang CCP
Hong Kong Med J 2008;14(5): 391 - 394
118The Application of Microarray Based Comparative Genomic Hybridization in Prenatal Diagnosis.
Choy KW, Tsang PT, Leung TY, Wang CC, Lau TK
Fetal and Maternal Medicine Review 2008;19(2): 119 - 133
119A novel transcription factor for optic vesicle induction and neuroepithelium differentiation during eye development in mouse.
Wang CC, Tang LY, Choy KW, Gojobori T, Ikeo K, Pang CCP
Asian J Ophthalmol 2007;9(1): 100
120Differential Aqueous and Vitreous Concentrations of Moxifloxacin and Ofloxacin After Topical Administration One Hour before Vitrectomy.
Lai WWK, Chu KO, Chan KP, Choy KW, Wang CC, Tsang CW, Pang CCP
Am J Ophthalmol 2007;144(2): 315 - 318
121Gene expression of human fetal retinal ganglion cell during early eye development.
Choy KW, Wong HK, Tang LY, Wang CC, Lau TK, Pang CCP
Asian J Ophthalmol 2007;9(1): 101
122JAK/STAT pathway mediates retinal ganglion cell survival after acute ocular hypertension but not under normal conditions.
Huang Y, Cen LP, Choy KW, Van Rooijen N, Wang NL, Pang CCP, Cui Q
Exp Eye Res 2007;85(5): 684 - 695
123The role of lectin-complement pathway in innate immune responses in clinical preeclampsia.
Wang CC, Yim KW, Poon TCW, Choy KW, Chu NCY, Lui WT, Leung TN, Lau TK, Rogers MS
Am J Reprod Immunol 2007;57(6): 467
124Uptake and distribution of catechins in fetal organs following in utero exposure in rats.
Chu KO, Wang CC, Chu NCY, Choy KW, Pang CCP, Rogers MS
Hum Reprod 2007;22(1): 280 - 287
12517{beta}-Estradiol suppresses proliferation of fibroblasts derived from cardinal ligaments in patients with or without pelvic organ prolapse.
Liu YM, Choy KW, Lui WT, Pang MW, Wong YF, Yip SK
Hum Reprod 2006;21(1): 303 - 308
126Aqueous Humor Levels of Vascular Endothelial Growth Factor and Pigment Epithelium-Derived Factor in Polypoidal Choroidal Vasculopathy and Choroidal Neovascularization.
Tong JP, Chan WM, Liu DTL, Lai TYY, Choy KW, Pang CCP, Lam DSC
Am J Ophthalmol 2006;141(3): 456 - 462
127Determination of ofloxacin and moxifloxacin and their penetration in human aqueous and vitreous humor by using high-performance liquid chromatography fluorescence detection.
Chan KP, Chu KO, Lai WWK, Choy KW, Wang CC, Lam DSC, Pang CCP
Anal Biochem 2006;353(1): 30 - 36
128Effects of triamcinolone on the expression of VEGF and PEDF in human retinal pigment epithelial and human umbilical vein endothelial cells.
Tong JP, Lam DSC, Chan WM, Choy KW, Chan KP, Pang CCP
Mol Vis 2006;12: 1490 - 1495
129Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes.
Choy KW, Wang CC, Ogura A, Lau TK, Rogers MS, Ikeo K, Gojobori T, Lam DSC, Pang CCP
Physiol Genomics 2006;25(1): 9 - 15
130Molecular characterization of the developmental gene in eyes: Through data-mining on integrated transcriptome databases.
Choy KW, Wang CC, Ogura A, Lau TK, Rogers MS, Ikeo K, Gojobori T, Tang LY, Lam DSC, Chung TKH, Pang CCP
Clin Biochem 2006;39(3): 224 - 230
131Molecular diagnostics of genetic eye diseases.
Fan BJ, Tam POS, Choy KW, Wang DY, Lam DSC, Pang CCP
Clin Biochem 2006;39(3): 231 - 239
132Necessary to evaluate the possible involvement of endothelin-1 gene polymorphisms in urinary dysfunction?
Choy KW, Yip SK
Am J Obstet Gynecol 2006;194(1): 300 - 301
133Pharmacokinetic studies of green tea catechins in maternal plasma and fetuses in rats.
Chu KO, Wang CC, Chu NCY, Chan KP, Rogers MS, Choy KW, Pang CCP
J Pharm Sci 2006;95(6): 1372 - 1381
134Clinical implications of promoter hypermethylation in RASSF1A and MGMT in retinoblastoma.
Choy KW, Lee TC, Cheung KF, Fan DSP, Lo KW, Beaverson KL, Abramson DH, Lam DSC, Yu CBO, Pang CCP
Neoplasia 2005;7(3): 200 - 206
135Epigenetic silencing of cellular retinol-binding proteins in nasopharyngeal carcinoma.
Kwong J, Lo KW, Chow LSN, To KF, Choy KW, Chan FL, Mok SC, Huang DP
Neoplasia 2005;7(1): 67 - 74
136Pediatric Malignancies: CASE 1. Hypermethylation in Orbital Alveolar Rhabdomyosarcoma.
Chan WM, Liu DTL, Pang CCP, Lam DSC, To KF, Choi PCL, Choy KW, Wong CY, Chan DDN
J Clin Oncol 2005;23(21): 4790 - 4791
137Determination of catechins and catechin gallates in biological fluids by HPLC with coulometric array detection and solid phase extraction.
Chu KO, Wang CC, Rogers MS, Choy KW, Pang CCP
Anal Chim Acta 2004;510(1): 69 - 76
138Determination of catechins and catechin gallates in tissues by liquid chromatography with coulometric array detection and selective solid phase extraction.
Chu KO, Wang CC, Chu NCY, Rogers MS, Choy KW, Pang CCP
J Chromatogr B 2004;810(2): 187 - 195
139Microsatellite Instability and MLH1 Promoter Methylation in Human Retinoblastoma.
Choy KW, Pang CCP, Fan DSP, Lee TC, Wang JH, Abramson DH, Lo KW, To KF, Yu CBO, Beaverson KL, Cheung KF, Lam DSC
Invest Ophthalmol Vis Sci 2004;45(10): 3404 - 3409
140Genetic alterations on chromosome 19, 20, 21, 22, and X detected by loss of heterozygosity analysis in retinoblastoma.
Huang Q, Choy KW, Cheung KF, Lam DSC, Fu WL, Pang CCP
Mol Vis 2003;9: 502 - 507
141HPLC Determination of Lignocaine and Its Metabolite Xylidine in Aqueous Humor.
Chu KO, Wang CC, Rogers MS, Choy KW, Kwok AKH, Pang CCP
Anal Lett 2003;36(12): 2669 - 2682
142Impaired Expression and Promotor Hypermethylation of O6-Methylguanine-DNA Methyltransferase in Retinoblastoma Tissues.
Choy KW, Pang CCP, To KF, Yu CBO, Ng JSK, Lam DSC
Invest Ophthalmol Vis Sci 2002;43(5): 1344 - 1349
143Loss of Heterozygosity and Mutations Are the Major Mechanisms of RB1 Gene Inactivation in Chinese With Sporadic Retinoblastoma.
Choy KW, Pang CCP, Yu CBO, Wong HL, Ng JSK, Fan DSP, Lo KW, Chai TY, Wang JH, Fu WL, Lam DSC
Hum Mutat 2002;20(5): 408