The Chinese University of Hong Kong & Prince of Wales Hospital

Department of Obstetrics and Gynaecology

Prof. Choy Kwong Wai, Richard Professor
(852) 3505 3099 richardchoy@cuhk.edu.hk

Qualifications

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: 204
Total citation: 4,917
H-index 37

1
Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting Kwan AHW, Zhu X, Mar Gil M, Kwok YKY, Wah IYM, Hui ASY, Ting YH, Law KM, Lau D, Xue S, Choy KW, Sahota D, Leung TY, Poon LC Diagnostics (Basel). 2022 Oct 9;12(10):2439
2
The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing Mitchell CO, Rivera-Cruz G, Chau MHK, Dong Z, Choy KW, Shen J, Amr S, Giersch ABS, Morton CC Int J Neonatal Screen. 2022 May 27;8(2):36
3
Expanded Carrier Screening Using Next- Generation Sequencing of 123 Hong Kong Chinese families: A Pilot Study. Chan OYM, Leung TY, Cao Y, Shi MM, Kwan AHW, Chung JPW, Choy KW, Chong SC. Hong Kong Med J. 2021 Jun;27(1):177-183.
4
Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: Shi M, Liauw AL, Tong S, Zheng Y, Leung TY, Chong SC, Cao Y, Lau TK, Choy KW, Chung JPW. A Chinese Cohort Study. Genes (Basel). 2021 Mar 29;12(4):496
5
The Pregnancy Outcome of Mosaic Embryo Transfer: A Prospective Multicenter Study and Meta-Analysis. Zhang YX, Chen JJ, Nabu S, Yeung QSY, Li Y, Tan JH, Suksalak W, Chanchamroen S, Quangkananurug W, Wong PS, Chung JPW, Choy KW. Genes (Basel). 2020 Aug 21;11(9):E973.
6
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 May 25
7
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;26(8);1609-1621.
8
Semiconductor Sequencing For Preimplantation Genetic Testing For Aneuploidy, Gui BH, Zhang YX, Liang B, Kwok YKY, Lui WT, Yeung QSY, Kong LY, Xuan LM , Chung JPW, Choy KW. J Vis Exp.2019 Aug 25; (150)
9
Practical Considerations in Providing Preimplantation Genetic Testing for Aneuploidies (PGT-A). Yeung QSY, Zhang YX, Chung JPW, Kwok YKY, Gui BH, Choy KW, Li TC. Fertility & Reproduction, 2019, 1.01: 21-29.
10
Investigation of the genetic etiology in male infertility with apparently balanced chromosomal structural rearrangements by genome sequencing Chau MHK, Li Y, Dai P, Shi M, Zhu X, Chung JPW, Kwok YK, Choy KW, Kong X, Dong Z Asian J Androl. May-Jun 2022;24(3):248-254
11
Investigation of chromosomal structural abnormalities in patients with undiagnosed neurodevelopmental disorders Cao Y, Luk HM, Zhang YY, Chau MHK, Xue S, Cheng SSW, Li AM, Chong JSC, Leung TY, Dong Z, Choy KW, Lo IFM Front Genet. 2022 Apr 14;13:803088
12
Global retinoblastoma survival and globe preservation: a systematic review and meta-analysis of associations with socioeconomic and health-care factors Wong ES, Choy RW, Zhang Y, Chu WK, Chen LJ, Pang CP, Yam JC Lancet Glob Health. 2022 Mar;10(3):e380-e389
13
International Urogynaecology Consultation chapter 1 committee 4: patients’ perception of disease burden of pelvic organ prolapse Robinson D, Prodigalidad LT, Chan S, Serati M, Lozo S, Lowder J, Ghetti C, Hullfish K, Hagen S, Dumoulin C Int Urogynecol J. 2022 Feb;33(2):189-210
14
Contributions of common genetic variants to specific languages and to when a language is learned Wong PCM, Kang X, So HC, Choy KW Sci Rep. 2022 Jan 12;12(1):580
15
Study on the Responsiveness of the Short Forms of Urogenital Distress Inventory (UDI-6) and Incontinence Impact Questionnaire (IIQ-7) in Women undergoing Pelvic Floor Muscle Training for Urinary Incontinence and Pelvic Organ Prolapse. Ip NP, Cheung YK, Wan YKO, Choy KW, Chan SC. Hong Kong Journal of Gynaecology, Obstetrics and Midwifery 2022;22:21-28
16
Treatment outcome of women with urodynamic mixed urinary incontinence: an observational study. Yung KK, Cheung RYK, Wan OYK, Lee LLL, Choy KW, Chan SSC. Int Urogynecol J. 2022 Apr 21. doi: 10.1007/s00192-022-05097-6. Epub ahead of print. PMID: 35445809.
17
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
18
A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report Ng VKS, Lau TK, Kan ASY, Chung BHY, Luk HM, Ng WF, Shi M, Choy KW, Cao Y, Leung WC Diagnostics 2021 Aug;11(9): 1576
19
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
20
Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study Chan OYM, Leung TY, Cao Y, Shi MM, Kwan AHW, Chung JPW, Choy KW, Chong SC Hong Kong Med J. 2021 Jun;27(1):177-183
21
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
22
Women with advanced pelvic organ prolapse and levator ani muscle avulsion would significantly benefit from mesh repair surgery Wong NKL, Cheung RYK, Lee LL, Wan OYK, Choy KW, Chan SSC Ultrasound Obstet Gynecol. 2021 Apr;57(4):631-638
23
Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study Shi M, Liauw AL, Tong S, Zheng Y, Leung TY, Chong SC, Cao Y, Lau TK, Choy KW, Chung JPW Genes (Basel). 2021 Mar 29;12(4):496
24
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
25
First Case Report of Maternal Mosaic Tetrasomy 9p Incidentally Detected on Non-Invasive Prenatal Testing Shu W, Cheng SSW, Xue S, Chan LW, Soong SI, Kan ASY, Cheung SWH, Choy KW Genes 2021 Mar;12(3): 12030370
26
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
27
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
28
Chromosomal abnormalities and neurological outcomes in fetal cerebral ventriculomegaly: a retrospective cohort analysis Lok WY, Kong CW, Hui SYA, Shi MM, Choy KW, To WK, Leung TY Hong Kong Med J. 2021 Dec;27(6):428-436
29
Intermediate- to long-term outcomes of transvaginal mesh for treatment of Asian women with pelvic organ prolapse Chan SSS, Wan OYW, Choy KW, Cheung RYK Hong Kong Med J. 2021 Dec;27(6):413-420
30
Intermediate- to long-term outcomes of transvaginal mesh for treatment of Asian women with pelvic organ prolapse. Chan SSC, Wan OYK, Choy KW, Cheung RYK. Hong Kong Med J 2021;27:413-20.
31
Long-Molecule Sequencing: A New Approach for Identification of Clinically Significant DNA Variants in α-Thalassemia and β-Thalassemia Carriers Xu L, Mao A, Liu H, Gui B, Choy KW, Huang H, Yu Q, Zhang X, Chen M, Lin N, Chen L, Han J, Wang Y, Zhang M, Li X, He D, Lin Y, Zhang J, Cram DS J Mol Diagn. 2020 Aug;22(8):1087-1095
32
The Pregnancy Outcome of Mosaic Embryo Transfer: A Prospective Multicenter Study and Meta-Analysis Zhang YX, Chen JJ, Nabu S, Yeung QSY, Li Y, Tan JH, Suksalak W, Chanchamroen S, Quangkananurug W, Wong PS, Chung JPW, Choy KW Genes (Basel). 2020 Aug 21;11(9):E973
33
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
34
MicroRNA-19a-PTEN axis is involved in the developmental decline of axon regenerative capacity in retinal ganglion cells Mak HK, Yung JSY, Weinreb RN, Ng SH, Cao X, Ho TYC, Ng TK, Chu WK, Yung WH, Choy KW, Wang CC, Lee TL, Leung CKS Mol Ther Nucleic Acids. 2020 Jun 1;21:251-263
35
ASPM-Lexical tone association in speakers of a tone language: Direct evidence for the genetic-biasing hypothesis of language evolution Wong PCM, Kang X, Wong KHY, So HC, Choy KW, Geng X Sci Adv. 2020 May; 6(22): eaba5090
36
Prevalence and heritability of handedness in a Hong Kong Chinese twin and singleton sample Zheng M, McBride C, Ho CS, Chan JK, Choy KW, Paracchini S BMC Psychol. 2020 Apr 22;8(1):37
37
Sequencing data of cell-free DNA fragments in living-related liver transplantation for inborn errors of metabolism Zhu X, Ng HI, Xuan L, Long Y, Mao Y, Shi Y, Sun L, Liang B, Scaglia F, Zhu Z, Choy KW Data Brief. 2020 Apr; 29: 105183, 6 pages
38
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
39
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
40
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
41
Autism-associated PTEN Missense Mutation Leads to Enhanced Nuclear Localization and Neurite Outgrowth in an Induced Pluripotent Stem Cell Line Wong CW, Wang Y, Liu T, Li L, Cheung SKK, Or PM, Cheng AS, Choy KW, Burbach JPH, Feng B, Chan RCC, Chan AM FEBS J. 2020 Nov;287(22):4848-4861
42
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
43
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
44
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 Am J Hum Genet. 2020 Jan 2;106(1):129-136
45
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)
46
The 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
47
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
48
Development 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
49
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)
50
Prenatal diagnosis of pathogenic genomic imbalance in fetuses with increased nuchal translucency but normal karyotyping using chromosomal microarray Leung TY, Au Yeung KC, Leung WC, Leung KY, Lo TK, To WWK, Lau WL, Chan LW, Sahota DS, Choy KW Hong Kong Med J. 2019 Aug;25 Suppl 5(4):30-32
51
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy Gui B, Zhang YX, 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)
52
Analysis 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
53
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
54
Publisher Correction: Non-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 Apr;25(4):701-702
55
Non-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
56
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.
57
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 YK, Jiang Y, Pursley AN, Chung JPW, Hong Yan, Kristiansen K, Yang H, Piña-Aguilar RE, Leung TY, Cheung SW, Morton CC, Choy KW, Chen ZJ Am J Hum Genet. 2019 Dec 5;105(6):1102-1111
58
Consensus 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
59
MicroRNA-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
60
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.
61
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 Autism Res. 2018 Aug;11(8):1098-1109
62
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
63
Target-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
64
Histological 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
65
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
66
Balanced 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
67
Aberrant 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
68
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
69
Interactome 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
70
Longitudinal follow-up of levator ani muscle avulsion: does a second delivery affect it? Chan SSC, Cheung RYK, Lee LL, Choy RKW, Chung TKH Ultrasound Obstet Gynecol. 2017 Jul;50(1):110-115
71
Chromosome 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
72
Quality 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 SSC, Pang SM, Lai BP, Choy KW Hong Kong Med J. 2017 Jun;23 Suppl 2(3):38-41
73
Topical Application of Mesenchymal Stromal Cells Ameliorated Liver Parenchyma Damage After Ischemia-Reperfusion Injury in an Animal Model Lam PK, 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
74
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 OYM , Lau TK , Leung TY , Choy KW Hong Kong Med J. 2017 Apr;23(2):110-6
75
Cardiomyogenesis 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
76
Combined 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
77
The 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
78
Copy-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
79
Quality of Life and Symptom Measurements in Chinese Women with Pelvic Floor Disorder(s): Validation Study of Pelvic Floor Distress Inventory and Pelvic Floor Impact Questionnaire. Chan SSC, Pang SMW, Lai BPY, Choy KW. Hong Kong Med J 2017;23 S2:38-41
80
Debates 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
81
Low-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
82
A 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)
83
Local 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
84
Maternal 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
85
Microrna-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)
86
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
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MiR-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
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Transdermal 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
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Prenatal 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
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Effect 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
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Prenatal 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
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Prevalence 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
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Signature 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
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SNaPshot 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
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TBX6 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
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Up-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
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A 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
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A 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
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A 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
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Additive 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
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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
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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
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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.
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Genetic 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
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Is High Fetal Nuchal Translucency Associated with Submicroscopic Chromosomal Abnormalities by Array CGH? Huang J, Poon LC, Akolekar R, Choy KW, Leung TY, Nicolaides KH. Ultrasound Obstet Gynecol 2014; 43: 620-624.
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Nanocomposite-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
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Non-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
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Performance 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
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Prenatal 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
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PSCC: 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
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Recurrent Structural Malformations Identified among Mowat-Wilson Syndrome Fetuses. Zhou Y, Huang J, Cheng YKY, Leung TY, Pooh RK, Lo FM, Choy KW Prenatal Diag 2014;34(3): 296 - 298
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Therapeutic 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
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Constitutive 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
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First-trimester Cystic Hygroma: Relationship of Nuchal Translucency Thickness and Outcomes. Huang J, Leung TY, Choy KW Obstet Gynecol 2013;121(1): 192 - 193
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MicroRNA-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
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Nicotine 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
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Noninvasive 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
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Responsiveness 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
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Role 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
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Secondary 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
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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
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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
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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
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CD44+ 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
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Extensive 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
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First 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
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In 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
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Inhibition 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
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Molecular Genetics in Fetal Neurology. Huang J, Wah YMI, Pooh RK, Choy KW Semin Fetal Neona M 2012;17(6): 341 - 346
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Prenatal 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
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Prevalence 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
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光谱核型分析联合微阵列比较基因组杂交诊断15号环状染色体综合征. Pan M, Choy KW, Liao C, Lau TK Chin J Med Genet 2012;29(5): 562 - 565
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A 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
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Chinese 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
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Current 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
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EZH2-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
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Identification 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
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Interactive 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
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MicroRNA-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
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Urinary 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
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X-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
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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
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A 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
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Allelic 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
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Chinese 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
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Classification 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
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Disseminated 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
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Green 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
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Identification 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
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Immunopanning 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
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MiR-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
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Novel 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
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Reduced 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
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Second-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
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The 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
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Tyrosinase 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
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Urinary 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
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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
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Adipose-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
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Chinese 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
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De 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
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Detection 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
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Monozygotic 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
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Prenatal 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
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Authentication 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
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EDN1 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
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High 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
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Prenatal 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
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The 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
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A 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
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Differential 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
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Gene 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
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JAK/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
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The 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
175
Uptake 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
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17{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
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Aqueous 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
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Determination 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
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Effects 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
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Genomic 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
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Molecular 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 , Siu NSS, Cheung TH, Lo KWK, Yim SF Clin Biochem 2006;39(3): 224 - 230
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Molecular diagnostics of genetic eye diseases. Fan BJ, Tam POS, Choy KW, Wang DY, Lam DSC, Pang CCP Clin Biochem 2006;39(3): 231 - 239
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Necessary 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
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Pharmacokinetic 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
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Clinical 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
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Epigenetic 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
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Pediatric 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
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Determination 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
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Determination 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
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Microsatellite 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
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Genetic 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
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HPLC 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
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Impaired 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
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Loss 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