Kwong Wai Choy

This paper identifies 249 candidate genes for human craniofacial malformation by integrating GWAS variants with epigenomic and single-cell transcriptomic data using machine learning.

This study conducts a genome-wide association study on Chinese and English language abilities in bilingual Hong Kong children, identifying 9 significant genetic loci and showing polygenic overlap with educational attainment and ADHD.

This study evaluates genome sequencing for prenatal diagnosis of fetuses with increased nuchal translucency, finding it doubles the diagnostic yield compared to standard methods.

The paper resolves the classification of two GJB2 variants as pathogenic for autosomal recessive nonsyndromic hearing loss through expert consensus.

This paper introduces a new mate-pair sequencing method called CP-AL that improves DNA-circularization efficiency and reduces contamination, enabling accurate detection of genomic variants.