Mandy Y. Tsang

LKS Faculty Of Medicine
Sar, China

Last Updated: 09/26/2026

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Found 12 publications

De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.

De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.

Journal: Brain : a journal of neurology

Published: November 02, 2023

Transformer-Based Spatio-Temporal Analysis for Classification of Aortic Stenosis Severity From Echocardiography Cine Series.

Transformer-Based Spatio-Temporal Analysis for Classification of Aortic Stenosis Severity From Echocardiography Cine Series.

Journal: IEEE transactions on medical imaging

Published: August 15, 2023

Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic.

Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic.

Journal: Clinical dysmorphology

Published: March 08, 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

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

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

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

Journal: The Lancet regional health. Western Pacific

Published: April 30, 2020

Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.

Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.

Journal: Human genomics

Published: April 16, 2020

A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.

A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.

Journal: NPJ genomic medicine

Published: March 31, 2020

Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).

Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).

Journal: BMC medical genomics

Published: August 24, 2018

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.

Journal: Molecular autism

Published: July 18, 2017

Pathway to mental health recovery: a qualitative and quantitative study on the needs of Chinese psychiatric inpatients.

Pathway to mental health recovery: a qualitative and quantitative study on the needs of Chinese psychiatric inpatients.

Journal: BMC psychiatry

Published: December 23, 2015

Showing 1-12 of 12

Last Updated: 09/26/2026