Kwong Wai Choy

Kwong Wai Choy

Shenzhen Research Institute, The Chinese University of Hong Kong

Affiliated withThe Chinese University of Hong Kong

Research Area

Biography

Dr. Richard KW CHOY works in Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong (CUHK), where he serves as Associate Professor as well as Director of Pre-implantation Genetic Diagnosis Laboratory of the same unit. Dr. Choy co-founded the Prenatal Genetic Diagnosis Centre and Pre-implantation Genetic Diagnosis Laboratory at CUHK, and has led a number of important milestones in Prenatal Diagnosis which include: A landmark study that established the role of chromosomal microarray analysis in fetus with high Nuchal translucency. He is an expertise in genomic medicine and molecular diagnosis. His main research interests focus on applying state-of-the-art technologies combined with innovative applications of molecular analytic tools to study the chromosome structure variants (including copy number variation and chromosomal structural rearrangements) in human. Recently his laboratory has establishthed the low-pass whole-genome sequencing method for explaining the implications of genome structural variation and its utility in clinical cytogenetics.

JoVE Journal Publications

ArticleTotal : 2
Year
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Publication title

Cited by 2

2019
2019

Other Publications

Article
Year
Impaired expression and promotor hypermethylation of O6-methylguanine-DNA methyltransferase in retinoblastoma tissues.

Investigative ophthalmology & visual science| PubMed ID: 11980845

2002
2002
2003
2004
2004
Determination of catechins and catechin gallates in tissues by liquid chromatography with coulometric array detection and selective solid phase extraction.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences| PubMed ID: 15380714

2004
Microsatellite instability and MLH1 promoter methylation in human retinoblastoma.

Investigative ophthalmology & visual science| PubMed ID: 15452042

2004
2005
2005
Pediatric malignancies. Case 1. Hypermethylation in orbital alveolar rhabdomyosarcoma.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology| PubMed ID: 16034055

2005
Molecular diagnostics of genetic eye diseases.

Clinical biochemistry| PubMed ID: 16412407

2006
2006
2006
2006
2007
2007
2007
High isoprostane level in cardinal ligament-derived fibroblasts and urine sample of women with uterine prolapse.

BJOG : an international journal of obstetrics and gynaecology| PubMed ID: 18715436

2008
2008
2010
2010
2009
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.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians| PubMed ID: 19900039

2009
2010
2010
Green tea catechins and their oxidative protection in the rat eye.

Journal of agricultural and food chemistry| PubMed ID: 20085274

2010
2010
MiR-222 overexpression confers cell migratory advantages in hepatocellular carcinoma through enhancing AKT signaling.

Clinical cancer research : an official journal of the American Association for Cancer Research| PubMed ID: 20103675

2010
The impact of human copy number variation on a new era of genetic testing.

BJOG : an international journal of obstetrics and gynaecology| PubMed ID: 20105165

2010
2010
Classification of pathogenic or benign status of CNVs detected by microarray analysis.

Expert review of molecular diagnostics| PubMed ID: 20843196

2010
2012
2010
2011
2011
2011
First trimester serum markers stability during sample transportation from the obstetrical site to the screening laboratory.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians| PubMed ID: 21740321

2012
2012
2013
In vitro amyloid aggregate forming ability of TGFBI mutants that cause corneal dystrophies.

Investigative ophthalmology & visual science| PubMed ID: 22850414

2012
Molecular genetics in fetal neurology.

Seminars in fetal & neonatal medicine| PubMed ID: 22909903

2012
2012
MicroRNA-182 plays an onco-miRNA role in cervical cancer.

Gynecologic oncology| PubMed ID: 23313739

2013
Prenatal diagnosis by array-comparative genomic hybridization.

Expert opinion on medical diagnostics| PubMed ID: 23496049

2009
2013
2013
2013
2014
2014
2014
A patient with five chromosomal rearrangements and a 2q31.1 microdeletion.

Clinica chimica acta; international journal of clinical chemistry| PubMed ID: 24412318

2014
2014
2014
Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era.

Critical reviews in clinical laboratory sciences| PubMed ID: 24878448

2014
2014
2014
2014
2014
Signature microRNAs in human cornea limbal epithelium.

Functional & integrative genomics| PubMed ID: 25487418

2015
[The value of blastocyst culture on preimplantation genetic diagnosis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics| PubMed ID: 26037339

2015
2015
2015
2015
Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach.

Genetics in medicine : official journal of the American College of Medical Genetics| PubMed ID: 26820068

2016
Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study.

Genetics in medicine : official journal of the American College of Medical Genetics| PubMed ID: 26913922

2016
Validation of a robust PCR-based assay for quantifying fragile X CGG repeats.

Clinica chimica acta; international journal of clinical chemistry| PubMed ID: 26947966

2016
2016
2016
2016
2016
2017
2016
2017
Copy-Number Variants Detection by Low-Pass Whole-Genome Sequencing.

Current protocols in human genetics| PubMed ID: 28696555

2017
2017
2017
2018
Balanced Chromosomal Rearrangement Detection by Low-Pass Whole-Genome Sequencing.

Current protocols in human genetics| PubMed ID: 29364520

2018
2018
Aberrant miR-145-5p/β-catenin signal impairs osteocyte function in adolescent idiopathic scoliosis.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology| PubMed ID: 29906249

2018
MicroRNA-132 directs human periodontal ligament-derived neural crest stem cell neural differentiation.

Journal of tissue engineering and regenerative medicine| PubMed ID: 30352481

2019
2019
2019
2019
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

Genetics in medicine : official journal of the American College of Medical Genetics| PubMed ID: 31160754

2019
Development of coupling controlled polymerizations by adapter-ligation in mate-pair sequencing for detection of various genomic variants in one single assay.

DNA research : an international journal for rapid publication of reports on genes and genomes| PubMed ID: 31173071

2019
Characteristics and mode of inheritance of pathogenic copy number variants in prenatal diagnosis.

American journal of obstetrics and gynecology| PubMed ID: 31207233

2019
2019
2019
Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis.

Genetics in medicine : official journal of the American College of Medical Genetics| PubMed ID: 31447483

2019
2019
2019