Cheuk Wing Fung

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 · 67 citations · Full text

COG5-CDG: expanding the clinical spectrum

Daisy Rymen, Liesbeth Keldermans, Valérie Race et al. · Orphanet Journal of Rare Diseases · 2012 · 43 citations · Full text

Arginase Deficiency With New Phenotype and a Novel Mutation: Contemporary Summary

Jane Pui Ki Tsang, Wai Lun Poon, Ho‐Ming Luk et al. · Pediatric Neurology · 2012 · 36 citations

New Phenotype, Mendelian Disorder, Contemporary Summary +8

Folinic Acid Responsive Epilepsy in Ohtahara Syndrome Caused by STXBP1 Mutation

Winnie W. Y. Tso, Anna Ka‐Yee Kwong, Cheuk Wing Fung et al. · Pediatric Neurology · 2013 · 27 citations

Clinical Disorders, Molecular Neuroscience, Genetic Disorder +8

Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder—implications of a copy number variation involving DPP10

A. Mak, Annie Ting Gee Chiu, Gordon Leung et al. · Molecular Autism · 2017 · 25 citations · Full text