Kwong Wai Choy

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

Loss of heterozygosity and mutations are the major mechanisms of RB1 gene inactivation in Chinese with sporadic retinoblastoma.

Genetic alterations on chromosome 19, 20, 21, 22, and X detected by loss of heterozygosity analysis in retinoblastoma.

Trolox-equivalent antioxidant capacity assay versus oxygen radical absorbance capacity assay in plasma.

Two cases of X-linked juvenile retinoschisis with different optical coherence tomography findings and RS1 gene mutations.

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

Microsatellite instability and MLH1 promoter methylation in human retinoblastoma.

Epigenetic silencing of cellular retinol-binding proteins in nasopharyngeal carcinoma.

Clinical implications of promoter hypermethylation in RASSF1A and MGMT in retinoblastoma.

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

Molecular diagnostics of genetic eye diseases.

Molecular characterization of the developmental gene in eyes: through data-mining on integrated transcriptome databases.

Determination of ofloxacin and moxifloxacin and their penetration in human aqueous and vitreous humor by using high-performance liquid chromatography fluorescence detection.

Pharmacokinetic studies of green tea catechins in maternal plasma and fetuses in rats.

Innate immune response by ficolin binding in apoptotic placenta is associated with the clinical syndrome of preeclampsia.

Differential aqueous and vitreous concentrations of moxifloxacin and ofloxacin after topical administration one hour before vitrectomy.

JAK/STAT pathway mediates retinal ganglion cell survival after acute ocular hypertension but not under normal conditions.

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

EDN1 Lys198Asn is associated with diabetic retinopathy in type 2 diabetes.

Identification of a novel 12p13.3 amplicon in nasopharyngeal carcinoma.

Allelic imbalance at 13q31 is associated with reduced GPC6 in Chinese with sporadic retinoblastoma.

Chinese women's preferences for prenatal diagnostic procedure and their willingness to trade between procedures.

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.

Reduced CRYL1 expression in hepatocellular carcinoma confers cell growth advantages and correlates with adverse patient prognosis.

Urinary incontinence should be added to the manifestation in women with Marfan syndrome.

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

Second-trimester detection of Mowat-Wilson syndrome using comparative genomic hybridization microarray testing.

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

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

Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1.

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

A rabbit model of age-dependant ocular hypertensive response to topical corticosteroids.

Immunopanning purification and long-term culture of human retinal ganglion cells.

Chinese validation of Pelvic Floor Distress Inventory and Pelvic Floor Impact Questionnaire.

X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3.

MicroRNA-145 regulates human corneal epithelial differentiation.

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

Prenatal detection of aneuploidy and imbalanced chromosomal arrangements by massively parallel sequencing.

Responsiveness of the Pelvic Floor Distress Inventory and Pelvic Floor Impact Questionnaire in women undergoing treatment for pelvic floor disorders.

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

Molecular genetics in fetal neurology.

CD44+ cancer stem-like cells in EBV-associated nasopharyngeal carcinoma.

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

Prenatal diagnosis by array-comparative genomic hybridization.

Role of B lymphoma Mo-MLV insertion region 1 in the oncogenic behavior of retinoblastomas.

Suppression of malignancy by Smad3 in mouse embryonic stem cell formed teratoma.

Constitutive activation of distinct NF-κB signals in EBV-associated nasopharyngeal carcinoma.

Additive effect of aldose reductase Z-4 microsatellite polymorphism and glycaemic control on cataract development in type 2 diabetes.

Recurrent structural malformations identified among Mowat-Wilson syndrome fetuses.

Therapeutic potentials of gene silencing by RNA interference: principles, challenges, and new strategies.

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

PSCC: sensitive and reliable population-scale copy number variation detection method based on low coverage sequencing.

Prenatal diagnosis of maternally inherited X-linked Opitz G/BBB syndrome by chromosomal microarray in a fetus with complex congenital heart disease.

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

Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort.

miR-31 is consistently inactivated in EBV-associated nasopharyngeal carcinoma and contributes to its tumorigenesis.

Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family.

Establishment and characterization of a novel primary hepatocellular carcinoma cell line with metastatic ability in vivo.

Signature microRNAs in human cornea limbal epithelium.

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

Up-regulation of Cathepsin G in the Development of Chronic Postsurgical Pain: An Experimental and Clinical Genetic Study.

Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variations.

Transdifferentiation of periodontal ligament-derived stem cells into retinal ganglion-like cells and its microRNA signature.

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

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

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

Maternal somatic mosaicism of FOXF1 mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings.

MicroRNA-183 suppresses cancer stem-like cell properties in EBV-associated nasopharyngeal carcinoma.

Local administration of siRNA through Microneedle: Optimization, Bio-distribution, Tumor Suppression and Toxicity.

A γA-Crystallin Mouse Mutant Secc with Small Eye, Cataract and Closed Eyelid.

Cardiomyogenesis of periodontal ligament-derived stem cells by dynamic tensile strain.

Prenatal detection of 10q22q23 duplications: dilemmas in phenotype prediction.

Chromosome copy number variants in fetuses with syndromic malformations.

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

Validation of a high-throughput and robust technique: BACs-on-beads assay (KaryoLite BoBs) for pre-implantation aneuploidy screening.

The CCCTC-binding factor (CTCF)-forkhead box protein M1 axis regulates tumour growth and metastasis in hepatocellular carcinoma.

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.

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

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.

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

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

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.

Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.

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.

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

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

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

The high-risk HPV oncogene E7 upregulates miR-182 expression through the TGF-β/Smad pathway in cervical cancer.

A prospective study of non-invasive preimplantation genetic testing for aneuploidies (NiPGT-A) using next-generation sequencing (NGS) on spent culture media (SCM).

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

Reply to the clinical utility of noninvasive prenatal screening for pathogenic copy number variants.

Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis.