Mandy Ho Yin Tsang

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

Kit San Yeung, Winnie W. Y. Tso, Janice Jing Kun Ip et al. · Molecular Autism · 2017 · 116 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Jasmine Lee Fong Fung, Mullin H.C. Yu, Shushu Huang et al. · npj Genomic Medicine · 2020 · 82 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

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

Gordon K. C. Leung, Christopher Chun Yu Mak, Jasmine Lee Fong Fung et al. · BMC Medical Genomics · 2018 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

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