1
Advances in Prenatal Cell-Free DNA Screening for Dominant Monogenic Conditions: A Review of Current Progress and Future Directions in Clinical Implementation
Liao J, Xu N, Gao H, Hardy T, Levy B, Mehta L, Choy KW, Huang H, Zhang J
Prenat Diagn. 2025 Apr;45(4):445-452
2
The Pipette and the Pressure: Assessing Stress Levels in Embryologists Special Interest Group—Embryology, ASPIRE
Mittal G, Mantravadi KC, Malhotra K, Liow S, Ezoe K, Choy KW, Chang TA, Chung MK, Rose R, Chi L
Fertility and Reproduction, 2025 Mar 1;7(1):27-33
3
Mate-pair Sequencing Enables Identification and Delineation of Balanced and Unbalanced Structural Variants in Prenatal Cytogenomic Diagnostics
Qian J, Wang H, Liang H, Zheng Y, Yu M, Tse WT, Kwan AHW, Wong L, Wong NKL, Wah IYM, Lau SL, Hui ASY, Chau MHK, Chen X, Zhang R, Poon L C, Leung TY, Liu P, Choy KW, Dong Z
Clin Chem. 2025 Jan 3;71(1):155-168
4
Preimplantation genetic testing for structural rearrangements by genome-wide SNP genotyping and haplotype analysis: a prospective multicenter clinical study
Zhang S, Gao Y, Wang X, Li Q, Tan J, Liang B, Gao M, Wu J, Ling X, Liu J, Teng X, Li H, Sun Y, Huang W, Tong X, Lei C, Li H, Wang J, Li S, Xu X, Zhang J, Wu W, Liang S, Ou J, Zhao Q, Jin R, Zhang Y, Xu C, Lu D, Yan J, Sun X, Choy KW, Xu C, Chen ZJ
EBioMedicine. 2025 Jan:111:105514
5
Detection of genomic variants by genome sequencing in foetuses with central nervous system abnormalities
Wang Y, Liu M, Gao Z, Hua C, Jiang J, Zheng Y, Dong Z, Cao Y, Choy KW, Zhu X, Kong X
Ann Med. 2024 Dec;56(1):2399317
6
Genetic Etiology in Pelvic Organ Prolapse: Role of Connective Tissue Homeostasis, Hormone Metabolism, and Oxidative Stress
Jiang WX, Cheung RYK, Chung CY, Chan SSC, Choy KW
Genes 2025 Dec:16(1);5
7
Contribution of Genomic Imbalance in Prenatal Congenital Anomalies of the Kidney and Urinary Tract: A Multi-Center Cohort Study
Li K, Wang H, Chau MHK, Dong Z, Cao Y, Zheng Y, Leung TY, Choy KW, Zhu Y
Prenat Diagn. 2024 Nov;44(12):1451-1461
8
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
9
Genome sequencing in the prenatal diagnosis of structural malformations in the fetus
Chau MHK, Choolani M, Dong Z, Cao Y, Choy KW
Best Pract Res Clin Obstet Gynaecol. 2024 Sep 13:102539
10
Incremental Yield of Whole-Genome Sequencing Over Chromosomal Microarray Analysis and Exome Sequencing for Congenital Anomalies in Prenatal Period and Infancy: Systematic Review and Meta-analysis
Shreeve N, Sproule C, Choy KW, Dong Z, Gajewska-Knapik K, Kilby MD, Mone F
Obstetrical and Gynecological Survey. 2024 Aug;79(8):455-457
11
Treatment Outcomes of Cesarean Scar Pregnancy Under a Novel Classification System A Retrospective Cohort Study
Yung KK, Lee LLL, Choy KW, Cheung ECW, Chan SSC, Cheung RYK
J Ultrasound Med. 2024 Aug;43(8):1421-1433
12
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
13
Functional study of a rare L1CAM gene c.1759G>C variant prove its pathogenicity
Yao Y, Qiu L, Wei X, Chen J, Choy KW, Zheng G, Yang T, Li S, Yang F
Cell Biochem Funct. 2024 Jun;42(4):e4034
14
Thalassemia screening by third-generation sequencing: Pilot study in a Thai population
Traisrisilp K, Zheng Y, Choy KW, Chareonkwan P
Obstet Med. 2024 Jun;17(2):101-107
15
A genome-wide association study of Chinese and English language phenotypes in Hong Kong Chinese children
Lin YP, Shi Y, Zhang R, Xue X, Rao S, Yin L, Lui KFH, Pan DJ, Maurer U, Choy KW, Paracchini S, McBride C, So HC
NPJ Sci Learn. 2024 Mar 27;9(1):26. doi: 10.1038/s41539-024-00229-7
16
Prenatal Diagnosis and Pregnancy Outcomes of Fetuses With Orofacial Cleft: A Retrospective Cohort Study in Two Centres in Hong Kong
Li YY, Tse WT, Kong CW, Wong NKL, Leung TY, Choy KW, To WWK, Cao Y
Cleft Palate Craniofac J. 2024 Mar;61(3):391-399
17
Identification of cryptic balanced translocations in couples with unexplained recurrent pregnancy loss based upon embryonic PGT-A results
Li S, Li H, Gao Y, Zou Y, Yin X, Chen ZJ, Choy KW, Dong Z, Yan J
Journal of Assist Reprod Genet. 2024 Jan;41(1):171- 184
18
Incremental yield of whole genome sequencing over chromosome microarray and exome sequencing for congenital anomalies in prenatal period and infancy: systematic review and meta-analysis
Shreeve N, Sproule C, Choy KW, Dong Z, Gajewska-Knapik K, Kilby MD, Mone F
Ultrasound Obstet Gynecol. 2024 Jan;63(1):15-23
19
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
20
Renal and extra-renal phenotypes in a fetus with a de novo pathogenic variant in the HNF1B gene
Tse WT, Cao Y, Lam PPH, Law KM, Choy KW, Ting YH
Prenat Diagn. 2024 Feb;44(2):251-254
21
Dyslexia-related loci are significantly associated with language and literacy in Chinese-English bilingual Hong Kong Chinese twins
Chung CY, Pan DJ, Paracchini S, Jiang W, So HC, McBride C, Maurer U, Zheng M, Choy KW
Hum Genet. 2023 Oct;142(10)::1519-1529
22
A Pilot Investigation of Low-pass Genome Sequencing Identifying Site-Specific Variation in Chromosomal Mosaicisms by a Multiple Site Sampling Approach in First-trimester Miscarriages
Li Y, Chau MHK, Zhang YX, Zhao YL, Xue SW, Li TC, Cao Y, Dong Z, Choy KW, Chung JPW
Hum Reprod. 2023 Aug 1;38(8):1628-1642
23
Low-pass genome sequencing-based detection of paternity: validation in clinical cytogenetics
Li K, Zhao Y, Chau MHK, Cao Y, Leung TY, Kwok YK, Choy KW, Dong Z
Genes 2023 Jul; 14(7):1357
24
Diagnostic Yield of Exome Sequencing in Fetuses with Sonographic Features of Skeletal Dysplasias but Normal Karyotype or Chromosomal Microarray Analysis: A Systematic Review
Tse KY, Surya IU, Irwinda R, Leung KY, Ting YH, Cao Y, Choy KW
Genes (Basel). 2023 May 30;14(6)
25
Genetic screening in patients with ovarian dysfunction
Zeng Y, Li L, Li Q, Hu J, Zhang N, Wu L, Yan Z, Qu R, Dong J, Liu R, Choy KW, Wang L, Sang Q, Guan Y, Chen B
Clin Genet. 2023 Mar;103(3):352-357
26
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
27
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. 2023 Mar;34(3):665-673
28
TEDD: a database of temporal gene expression patterns during multiple developmental periods in human and model organisms
Zhou Z, Tan C, Chau MHK, Jiang X, Ke Z, Chen X, Cao Y, Kwok YK, Bellgard M, Leung TY, Choy KW, Dong Z
Nucleic Acids Res. 2023 Jan 6;51(D1):D1168-D1178
29
Case report: prenatal recurrent microcephaly and corpus callosum abnormalities in a Chinese family with novel biallelic SASS6 mutations
Wah YMI, Cao Y, Law CY, Choy KW, Leung TY, Kwan HWA, Poon LC
Fetal Diagn Ther. 2023;50(2):84-91
30
Molecular cytogenomics of human genetic disorders
Dong Z, Choy KW, Morton CC
In: Human Reproductive and Prenatal Genetics (Second Edition), Academic Press. 2023, Chapter 28, pp 721-741
31
Implementation of public funded genome sequencing in evaluation of fetal structural anomalies
So PL, Hui ASY, Ma TWL, Shu W, Hui APW, Kong CW, Lo TK, Kan ANC, Kan EYL, Chong SC, Chung BHY, Luk HM, Choy KW, Kan ASY, Leung WC
Genes (Basel). 2022 Nov 10;13(11):2088
32
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
33
Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects
Cao Y, Chau MHK, Zheng Y, Zhao Y, Kwan AHW, Hui SYA, Lam YH, Tan TYT, Tse WT, Wong L, Leung TY, Dong Z, Choy KW
Prenat Diagn. 2022 Jun;42(7):862-872. (Impact factor (2022): 3.0, citations: 6
34
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
35
Ultrasound-guided Manual Vacuum Aspiration is an optimal method for obtaining products of conception from early pregnancy loss for cytogenetic testing.
Chung JPW, Li Y, Law TSM, Ng K, Chau OSY, Choy KW, Chan DYL
Int J Biochem Cell Biol. 2022 Jun;147:106226
36
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
37
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.
38
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
39
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
40
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
41
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
42
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
43
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
44
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
45
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
46
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
47
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
48
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
49
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
50
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
51
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
52
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
53
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
54
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
55
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
56
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
57
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
58
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
59
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
60
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.
61
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
62
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
63
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
64
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
65
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
66
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
67
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
68
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
69
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
70
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 Y, 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.
71
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.
72
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
73
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
74
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)
75
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)
76
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
77
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.
78
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)
79
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
80
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.
81
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
82
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
83
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
84
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
85
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
86
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
87
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
88
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
89
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
90
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
91
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
92
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
93
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
94
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
95
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
96
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
97
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
98
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
99
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
100
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
101
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
102
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
103
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
104
Pelvic Floor Disorders Related to Pregnancy: a Prospective Observational Study.
Chan SSC, Choy RKW, Yiu KW, Cheung RYK, Leung TY.
Hong Kong Med J 2017;23 S2:42-46
105
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
106
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
107
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
108
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
109
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)
110
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
111
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
112
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)
113
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
114
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
115
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
116
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
117
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
118
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
119
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
120
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
121
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
122
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
123
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
124
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
125
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
126
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
127
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
128
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
129
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.
130
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
131
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.
132
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
133
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
134
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
135
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
136
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
137
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
138
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
139
First-trimester Cystic Hygroma: Relationship of Nuchal Translucency Thickness and Outcomes.
Huang J, Leung TY, Choy KW
Obstet Gynecol 2013;121(1): 192 - 193
140
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
141
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
142
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
143
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
144
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
145
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
146
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
147
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
148
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
149
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
150
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
151
Molecular Genetics in Fetal Neurology.
Huang J, Wah YMI, Pooh RK, Choy KW
Semin Fetal Neona M 2012;17(6): 341 - 346
152
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
153
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
154
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
155
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
156
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
157
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
158
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
159
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
160
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
161
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
162
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
163
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
164
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
165
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
166
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
167
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
中華醫學遺傳學雜誌,2011(1):47-51
168
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
169
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
170
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
171
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
172
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
173
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
174
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
175
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
176
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
177
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
178
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
179
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
180
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
181
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
182
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
183
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
184
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
中華醫學遺傳學雜誌, 2010(5):5
185
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
186
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
187
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
188
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
189
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
190
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
191
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
192
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
193
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
194
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
195
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
196
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
197
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
198
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
199
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
200
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
201
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
202
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
203
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
204
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
205
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
206
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
207
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
208
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
209
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
210
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
211
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
212
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
213
Postablation-tubal sterilization syndrome following thermal balloon endometrial ablation.
Leung PL, Yuen PM
Acta Obstet Gyn Scan 2006;85(4): 504 - 505
214
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
215
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
216
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
217
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
218
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
219
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
220
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
221
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
222
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
223
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
生殖医学
