Kwong Wai Choy Department of Obstetrics and Gynaecology The Chinese University of Hong Kong Biography Publications Institution JoVE Articles Kwong Wai Choy has not added a biography. If you are Kwong Wai Choy and would like to personalize this page please email our Author Liaison for assistance. Publications Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis Frontiers in Genetics. Month, 2019 | Pubmed ID: 31475041 Reply to the Clinical Utility of Noninvasive Prenatal Screening for Pathogenic Copy Number Variants American Journal of Obstetrics and Gynecology. Aug, 2019 | Pubmed ID: 31469991 Low-pass Genome Sequencing Versus Chromosomal Microarray Analysis: Implementation in Prenatal Diagnosis Genetics in Medicine : Official Journal of the American College of Medical Genetics. Aug, 2019 | Pubmed ID: 31447483 A Prospective Study of Non-invasive Preimplantation Genetic Testing for Aneuploidies (NiPGT-A) Using Next-generation Sequencing (NGS) on Spent Culture Media (SCM) Journal of Assisted Reproduction and Genetics. Jul, 2019 | Pubmed ID: 31292818 The High-risk HPV Oncogene E7 Upregulates MiR-182 Expression Through the TGF-β/Smad Pathway in Cervical Cancer Cancer Letters. Sep, 2019 | Pubmed ID: 31247272 Characteristics and Mode of Inheritance of Pathogenic Copy Number Variants in Prenatal Diagnosis American Journal of Obstetrics and Gynecology. Jun, 2019 | Pubmed ID: 31207233 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. Aug, 2019 | Pubmed ID: 31173071 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. Jun, 2019 | Pubmed ID: 31160754 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 Molecular Genetics and Metabolism. 05, 2019 | Pubmed ID: 31027872 Publisher Correction: Non-invasive Prenatal Sequencing for Multiple Mendelian Monogenic Disorders Using Circulating Cell-free Fetal DNA Nature Medicine. Apr, 2019 | Pubmed ID: 30787481 Non-invasive Prenatal Sequencing for Multiple Mendelian Monogenic Disorders Using Circulating Cell-free Fetal DNA Nature Medicine. 03, 2019 | Pubmed ID: 30692697 MicroRNA-132 Directs Human Periodontal Ligament-derived Neural Crest Stem Cell Neural Differentiation Journal of Tissue Engineering and Regenerative Medicine. Jan, 2019 | Pubmed ID: 30352481 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. Jun, 2018 | Pubmed ID: 29906249 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 Autism Research : Official Journal of the International Society for Autism Research. 08, 2018 | Pubmed ID: 29608813 Balanced Chromosomal Rearrangement Detection by Low-Pass Whole-Genome Sequencing Current Protocols in Human Genetics. Jan, 2018 | Pubmed ID: 29364520 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 Genetics in Medicine : Official Journal of the American College of Medical Genetics. 07, 2018 | Pubmed ID: 29095815 The CCCTC-binding Factor (CTCF)-forkhead Box Protein M1 Axis Regulates Tumour Growth and Metastasis in Hepatocellular Carcinoma The Journal of Pathology. Dec, 2017 | Pubmed ID: 28862757 Validation of a High-throughput and Robust Technique: BACs-on-beads Assay (KaryoLite BoBs) for Pre-implantation Aneuploidy Screening Taiwanese Journal of Obstetrics & Gynecology. Aug, 2017 | Pubmed ID: 28805610 Copy-Number Variants Detection by Low-Pass Whole-Genome Sequencing Current Protocols in Human Genetics. 07, 2017 | Pubmed ID: 28696555 Chromosome Copy Number Variants in Fetuses with Syndromic Malformations Birth Defects Research. Jun, 2017 | Pubmed ID: 28568742 Cardiomyogenesis of Periodontal Ligament-derived Stem Cells by Dynamic Tensile Strain Cell and Tissue Research. 02, 2017 | Pubmed ID: 27747368 Prenatal Detection of 10q22q23 Duplications: Dilemmas in Phenotype Prediction Prenatal Diagnosis. Dec, 2016 | Pubmed ID: 27859473 A γA-Crystallin Mouse Mutant Secc with Small Eye, Cataract and Closed Eyelid PloS One. Month, 2016 | Pubmed ID: 27513760 Local Administration of SiRNA Through Microneedle: Optimization, Bio-distribution, Tumor Suppression and Toxicity Scientific Reports. 07, 2016 | Pubmed ID: 27457182 MicroRNA-183 Suppresses Cancer Stem-like Cell Properties in EBV-associated Nasopharyngeal Carcinoma BMC Cancer. 07, 2016 | Pubmed ID: 27431799 Maternal Somatic Mosaicism of FOXF1 Mutation Causes Recurrent Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins in Siblings American Journal of Medical Genetics. Part A. Jul, 2016 | Pubmed ID: 27109257 Validation of a Robust PCR-based Assay for Quantifying Fragile X CGG Repeats Clinica Chimica Acta; International Journal of Clinical Chemistry. May, 2016 | Pubmed ID: 26947966 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. 10, 2016 | Pubmed ID: 26913922 Low-pass Whole-genome Sequencing in Clinical Cytogenetics: a Validated Approach Genetics in Medicine : Official Journal of the American College of Medical Genetics. 09, 2016 | Pubmed ID: 26820068 Transdifferentiation of Periodontal Ligament-derived Stem Cells into Retinal Ganglion-like Cells and Its MicroRNA Signature Scientific Reports. Nov, 2015 | Pubmed ID: 26549845 Prenatal Diagnosis of Complete Maternal Uniparental Isodisomy of Chromosome 4 in a Fetus Without Congenital Abnormality or Inherited Disease-associated Variations Molecular Cytogenetics. Month, 2015 | Pubmed ID: 26539248 Up-regulation of Cathepsin G in the Development of Chronic Postsurgical Pain: An Experimental and Clinical Genetic Study Anesthesiology. Oct, 2015 | Pubmed ID: 26270939 [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. Jun, 2015 | Pubmed ID: 26037339 Signature MicroRNAs in Human Cornea Limbal Epithelium Functional & Integrative Genomics. May, 2015 | Pubmed ID: 25487418 Establishment and Characterization of a Novel Primary Hepatocellular Carcinoma Cell Line with Metastatic Ability in Vivo Cancer Cell International. Month, 2014 | Pubmed ID: 25349534 Exome Sequencing Identifies a Novel Frameshift Mutation of MYO6 As the Cause of Autosomal Dominant Nonsyndromic Hearing Loss in a Chinese Family Annals of Human Genetics. Nov, 2014 | Pubmed ID: 25227905 MiR-31 is Consistently Inactivated in EBV-associated Nasopharyngeal Carcinoma and Contributes to Its Tumorigenesis Molecular Cancer. Aug, 2014 | Pubmed ID: 25098679 Performance of Chromosomal Microarray for Patients with Intellectual Disabilities/developmental Delay, Autism, and Multiple Congenital Anomalies in a Chinese Cohort Molecular Cytogenetics. Month, 2014 | Pubmed ID: 24926319 Genetic Diagnosis of Autism Spectrum Disorders: the Opportunity and Challenge in the Genomics Era Critical Reviews in Clinical Laboratory Sciences. Oct, 2014 | Pubmed ID: 24878448 Prenatal Diagnosis of Maternally Inherited X-linked Opitz G/BBB Syndrome by Chromosomal Microarray in a Fetus with Complex Congenital Heart Disease Clinica Chimica Acta; International Journal of Clinical Chemistry. Sep, 2014 | Pubmed ID: 24863803 PSCC: Sensitive and Reliable Population-scale Copy Number Variation Detection Method Based on Low Coverage Sequencing PloS One. Month, 2014 | Pubmed ID: 24465483 A Patient with Five Chromosomal Rearrangements and a 2q31.1 Microdeletion Clinica Chimica Acta; International Journal of Clinical Chemistry. Mar, 2014 | Pubmed ID: 24412318 Therapeutic Potentials of Gene Silencing by RNA Interference: Principles, Challenges, and New Strategies Gene. Apr, 2014 | Pubmed ID: 24406620 Recurrent Structural Malformations Identified Among Mowat-Wilson Syndrome Fetuses Prenatal Diagnosis. Mar, 2014 | Pubmed ID: 24375696 Additive Effect of Aldose Reductase Z-4 Microsatellite Polymorphism and Glycaemic Control on Cataract Development in Type 2 Diabetes Journal of Diabetes and Its Complications. Mar-Apr, 2014 | Pubmed ID: 24360973 Constitutive Activation of Distinct NF-κB Signals in EBV-associated Nasopharyngeal Carcinoma The Journal of Pathology. Nov, 2013 | Pubmed ID: 23868181 Suppression of Malignancy by Smad3 in Mouse Embryonic Stem Cell Formed Teratoma Stem Cell Reviews and Reports. Oct, 2013 | Pubmed ID: 23794057 Role of B Lymphoma Mo-MLV Insertion Region 1 in the Oncogenic Behavior of Retinoblastomas Molecular Vision. Month, 2013 | Pubmed ID: 23559850 MicroRNA-182 Plays an Onco-miRNA Role in Cervical Cancer Gynecologic Oncology. Apr, 2013 | Pubmed ID: 23313739 Responsiveness of the Pelvic Floor Distress Inventory and Pelvic Floor Impact Questionnaire in Women Undergoing Treatment for Pelvic Floor Disorders International Urogynecology Journal. Feb, 2013 | Pubmed ID: 22669425 CD44+ Cancer Stem-like Cells in EBV-associated Nasopharyngeal Carcinoma PloS One. Month, 2012 | Pubmed ID: 23285037 Molecular Genetics in Fetal Neurology Seminars in Fetal & Neonatal Medicine. Dec, 2012 | Pubmed ID: 22909903 In Vitro Amyloid Aggregate Forming Ability of TGFBI Mutants That Cause Corneal Dystrophies Investigative Ophthalmology & Visual Science. Aug, 2012 | Pubmed ID: 22850414 Prenatal Detection of Aneuploidy and Imbalanced Chromosomal Arrangements by Massively Parallel Sequencing PloS One. Month, 2012 | Pubmed ID: 22389664 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. Jul, 2012 | Pubmed ID: 21740321 A Rabbit Model of Age-dependant Ocular Hypertensive Response to Topical Corticosteroids Acta Ophthalmologica. Sep, 2012 | Pubmed ID: 21044276 MicroRNA-145 Regulates Human Corneal Epithelial Differentiation PloS One. Month, 2011 | Pubmed ID: 21701675 X-linked Congenital Hypertrichosis Syndrome is Associated with Interchromosomal Insertions Mediated by a Human-specific Palindrome Near SOX3 American Journal of Human Genetics. Jun, 2011 | Pubmed ID: 21636067 Chinese Validation of Pelvic Floor Distress Inventory and Pelvic Floor Impact Questionnaire International Urogynecology Journal. Oct, 2011 | Pubmed ID: 21611791 Immunopanning Purification and Long-term Culture of Human Retinal Ganglion Cells Molecular Vision. Dec, 2010 | Pubmed ID: 21203402 Classification of Pathogenic or Benign Status of CNVs Detected by Microarray Analysis Expert Review of Molecular Diagnostics. Sep, 2010 | Pubmed ID: 20843196 Tyrosinase Gene (TYR) Mutations in Chinese Patients with Oculocutaneous Albinism Type 1 Clinical & Experimental Ophthalmology. Jan, 2010 | Pubmed ID: 20447099 The Impact of Human Copy Number Variation on a New Era of Genetic Testing BJOG : an International Journal of Obstetrics and Gynaecology. Mar, 2010 | Pubmed ID: 20105165 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. Feb, 2010 | Pubmed ID: 20103675 Second-trimester Detection of Mowat-Wilson Syndrome Using Comparative Genomic Hybridization Microarray Testing Obstetrics and Gynecology. Feb, 2010 | Pubmed ID: 20093881 Green Tea Catechins and Their Oxidative Protection in the Rat Eye Journal of Agricultural and Food Chemistry. Feb, 2010 | Pubmed ID: 20085274 Urinary Incontinence Should Be Added to the Manifestation in Women with Marfan Syndrome International Urogynecology Journal. May, 2010 | Pubmed ID: 20066398 Reduced CRYL1 Expression in Hepatocellular Carcinoma Confers Cell Growth Advantages and Correlates with Adverse Patient Prognosis The Journal of Pathology. Feb, 2010 | Pubmed ID: 19927314 Allelic Imbalance at 13q31 is Associated with Reduced GPC6 in Chinese with Sporadic Retinoblastoma The British Journal of Ophthalmology. Mar, 2010 | Pubmed ID: 19726429 Identification of a Novel 12p13.3 Amplicon in Nasopharyngeal Carcinoma The Journal of Pathology. Jan, 2010 | Pubmed ID: 19718711 Prenatal Diagnosis by Array-comparative Genomic Hybridization Expert Opinion on Medical Diagnostics. Nov, 2009 | Pubmed ID: 23496049 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. Nov, 2009 | Pubmed ID: 19900039 Chinese Women's Preferences for Prenatal Diagnostic Procedure and Their Willingness to Trade Between Procedures Prenatal Diagnosis. Dec, 2009 | Pubmed ID: 19862769 EDN1 Lys198Asn is Associated with Diabetic Retinopathy in Type 2 Diabetes Molecular Vision. Sep, 2008 | Pubmed ID: 18806884 High Isoprostane Level in Cardinal Ligament-derived Fibroblasts and Urine Sample of Women with Uterine Prolapse BJOG : an International Journal of Obstetrics and Gynaecology. Aug, 2008 | Pubmed ID: 18715436 JAK/STAT Pathway Mediates Retinal Ganglion Cell Survival After Acute Ocular Hypertension but Not Under Normal Conditions Experimental Eye Research. Nov, 2007 | Pubmed ID: 17869246 Differential Aqueous and Vitreous Concentrations of Moxifloxacin and Ofloxacin After Topical Administration One Hour Before Vitrectomy American Journal of Ophthalmology. Aug, 2007 | Pubmed ID: 17659971 Innate Immune Response by Ficolin Binding in Apoptotic Placenta is Associated with the Clinical Syndrome of Preeclampsia Clinical Chemistry. Jan, 2007 | Pubmed ID: 17202497 Pharmacokinetic Studies of Green Tea Catechins in Maternal Plasma and Fetuses in Rats Journal of Pharmaceutical Sciences. Jun, 2006 | Pubmed ID: 16625654 Determination of Ofloxacin and Moxifloxacin and Their Penetration in Human Aqueous and Vitreous Humor by Using High-performance Liquid Chromatography Fluorescence Detection Analytical Biochemistry. Jun, 2006 | Pubmed ID: 16620758 Molecular Characterization of the Developmental Gene in Eyes: Through Data-mining on Integrated Transcriptome Databases Clinical Biochemistry. Mar, 2006 | Pubmed ID: 16427038 Molecular Diagnostics of Genetic Eye Diseases Clinical Biochemistry. Mar, 2006 | Pubmed ID: 16412407 Pediatric Malignancies. Case 1. Hypermethylation in Orbital Alveolar Rhabdomyosarcoma Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology. Jul, 2005 | Pubmed ID: 16034055 Clinical Implications of Promoter Hypermethylation in RASSF1A and MGMT in Retinoblastoma Neoplasia (New York, N.Y.). Mar, 2005 | Pubmed ID: 15799820 Epigenetic Silencing of Cellular Retinol-binding Proteins in Nasopharyngeal Carcinoma Neoplasia (New York, N.Y.). Jan, 2005 | Pubmed ID: 15720818 Microsatellite Instability and MLH1 Promoter Methylation in Human Retinoblastoma Investigative Ophthalmology & Visual Science. Oct, 2004 | Pubmed ID: 15452042 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. Oct, 2004 | Pubmed ID: 15380714 Two Cases of X-linked Juvenile Retinoschisis with Different Optical Coherence Tomography Findings and RS1 Gene Mutations Clinical & Experimental Ophthalmology. Aug, 2004 | Pubmed ID: 15281981 Trolox-equivalent Antioxidant Capacity Assay Versus Oxygen Radical Absorbance Capacity Assay in Plasma Clinical Chemistry. May, 2004 | Pubmed ID: 15105359 Genetic Alterations on Chromosome 19, 20, 21, 22, and X Detected by Loss of Heterozygosity Analysis in Retinoblastoma Molecular Vision. Oct, 2003 | Pubmed ID: 14551532 Loss of Heterozygosity and Mutations Are the Major Mechanisms of RB1 Gene Inactivation in Chinese with Sporadic Retinoblastoma Human Mutation. Nov, 2002 | Pubmed ID: 12402348 Impaired Expression and Promotor Hypermethylation of O6-methylguanine-DNA Methyltransferase in Retinoblastoma Tissues Investigative Ophthalmology & Visual Science. May, 2002 | Pubmed ID: 11980845 A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene Huilin Wang*1, Xiaofan Zhu*2,3, Baoheng Gui*3,4, Wan Chee Cheung2, Mengmeng Shi2,3, Zhenjun Yang2,3, Ka Yin Kwok2, Ricky Lim5, Sanna Pietilä5, Yuanfang Zhu6,7, Kwong Wai Choy2,3 1Central Laboratory, Bao'an Maternity and Child Health Hospital, Jinan University, 2Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, 3Shenzhen Research Institute, The Chinese University of Hong Kong, 4Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, 5PerkinElmer Diagnostics, 6Department of Obstetrics and Gynecology, Bao'an Maternity and Child Health Hospital, Jinan University, 7Maternal-Fetal Medicine Institute, Bao'an Maternity and Child Health Hospital, Jinan University JoVE 59963 Genetics Séquençage des semi-conducteurs pour les tests génétiques préimplantatoires pour l'anéuploidy Baoheng Gui*1,2,3, Yingxin Zhang*4, Bo Liang5, Yvonne Ka Yin Kwok4, Wai Ting Lui4, Queenie Sum Yee Yeung4, Lingyin Kong6, Liming Xuan6, Jacqueline Pui Wah Chung4, Kwong Wai Choy3,4 1Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, 2Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, 3Shenzhen Research Institute, The Chinese University of Hong Kong, 4Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, 5State Key Laboratory of Microbial Metabolism, Joint International Research Laboratory of Metabolic and Developmental Sciences, School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, 6Basecare Medical Device Co., Ltd JoVE 59273 Genetics
A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene Huilin Wang*1, Xiaofan Zhu*2,3, Baoheng Gui*3,4, Wan Chee Cheung2, Mengmeng Shi2,3, Zhenjun Yang2,3, Ka Yin Kwok2, Ricky Lim5, Sanna Pietilä5, Yuanfang Zhu6,7, Kwong Wai Choy2,3 1Central Laboratory, Bao'an Maternity and Child Health Hospital, Jinan University, 2Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, 3Shenzhen Research Institute, The Chinese University of Hong Kong, 4Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, 5PerkinElmer Diagnostics, 6Department of Obstetrics and Gynecology, Bao'an Maternity and Child Health Hospital, Jinan University, 7Maternal-Fetal Medicine Institute, Bao'an Maternity and Child Health Hospital, Jinan University JoVE 59963 Genetics
Séquençage des semi-conducteurs pour les tests génétiques préimplantatoires pour l'anéuploidy Baoheng Gui*1,2,3, Yingxin Zhang*4, Bo Liang5, Yvonne Ka Yin Kwok4, Wai Ting Lui4, Queenie Sum Yee Yeung4, Lingyin Kong6, Liming Xuan6, Jacqueline Pui Wah Chung4, Kwong Wai Choy3,4 1Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, 2Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, 3Shenzhen Research Institute, The Chinese University of Hong Kong, 4Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, 5State Key Laboratory of Microbial Metabolism, Joint International Research Laboratory of Metabolic and Developmental Sciences, School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, 6Basecare Medical Device Co., Ltd JoVE 59273 Genetics
