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Molecular characterization of the 2011 Hong Kong scarlet fever outbreak.
A scarlet fever outbreak occurred in Hong Kong in 2011. The majority of cases resulted in the isolation of Streptococcus pyogenes emm12 with multiple antibiotic resistances. Phylogenetic analysis of… Expand
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs
Abstract Background Rapid whole-exome sequencing (rWES) offers the potential for early diagnosis-predicated precision medicine. Previous evidence focused predominantly on infants from the intensive… Expand
Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data.
The use of exome and genome sequencing has increased rapidly nowadays. After primary analysis, further analysis can be performed to identify secondary findings that offer medical benefit for patient… Expand
Development and validation of next generation sequencing based 35-gene hereditary cancer panel
- W. Chan, Mianne Lee, +6 authors Lawrence C H Tzang
- Hereditary cancer in clinical practice
- 28 April 2020
Background Understanding the genetic basis of cancer risk is a major international endeavor. The emergence of next-generation sequencing (NGS) in late 2000’s has further accelerated the discovery of… Expand
A case of G1013R FBN1 mutation: A potential genotype–phenotype correlation in severe Marfan syndrome
- Brooke R Willis, Mianne Lee, +6 authors B. Chung
- American journal of medical genetics. Part A
- 21 March 2020
Marfan Syndrome (MFS) is an autosomal dominant connective tissue disorder with a wide range of severities. Ninety‐five percent of MFS probands have a mutation in the fibrillin‐1 gene (FBN1); however,… Expand