List of works by Christopher C Y Mak

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

scientific article published in 2021

Cell lineage-specific genome-wide DNA methylation analysis of patients with paediatric-onset systemic lupus erythematosus

scientific article published on 16 March 2019

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

scientific article published in 2022

Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients

scientific article published on 10 March 2020

Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey

scientific article published on 06 August 2018

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

scientific article published on 05 August 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

scientific article published on 24 April 2019

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