Jeffrey Fong Ting Chau

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 · 68 citations · Full text

Life Sciences, Genetics, Pediatrics +17

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 · 29 citations · Full text

Medicine, Pharmacology, Medical Genetics +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 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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 · 19 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome

Kavitha Rethanavelu, Jasmine Lee Fong Fung, Jeffrey Fong Ting Chau et al. · American Journal of Medical Genetics Part A · 2019 · 16 citations

Life Sciences, Genetics, Neurology +11