Jeffrey T. Chau

Sar, China

Last Updated: 09/26/2026

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Found 8 publications

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

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

Journal: NPJ genomic medicine

Published: June 28, 2022

Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis.

Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis.

Journal: Frontiers in genetics

Published: April 30, 2022

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

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

Journal: NPJ genomic medicine

Published: August 06, 2021

Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis.

Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis.

Journal: Frontiers in genetics

Published: October 22, 2020

Rare versus common diseases: a false dichotomy in precision medicine.

Rare versus common diseases: a false dichotomy in precision medicine.

Journal: NPJ genomic medicine

Published: September 14, 2020

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

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

Journal: PLoS genetics

Published: August 12, 2020

Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data.

Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data.

Journal: Journal of human genetics

Published: June 05, 2020

Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome.

Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome.

Journal: American journal of medical genetics. Part A

Published: June 02, 2019

Showing 1-8 of 8

Last Updated: 09/26/2026