Mianne Lee

Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs

Claudia Ching Yan Chung, Gordon K. C. Leung, Christopher Chun Yu Mak et al. · The Lancet Regional Health - Western Pacific · 2020 · 67 citations · Full text

Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population

Mullin H.C. Yu, Marcus Chan, Claudia Ching Yan Chung et al. · PLoS Genetics · 2021 · 27 citations · Full text

Hong Kong Population, Genetics, Genetic Epidemiology +16

Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept

Mianne Lee, Anna Ka‐Yee Kwong, Martin Man Chun Chui et al. · npj Genomic Medicine · 2022 · 20 citations · Full text

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese

Jeffrey Fong Ting Chau, Mullin H.C. Yu, Martin Man Chun Chui et al. · npj Genomic Medicine · 2022 · 17 citations · Full text

Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants

Mianne Lee, Adrian C.Y. Lui, Joshua Chun Ki Chan et al. · Human Genomics · 2023 · 14 citations · Full text

Genetic Testing, Genetics, Genetic Epidemiology +29