Christopher Chun Yu Mak

22q11.2 deletion syndrome in diverse populations

Paul Kruszka, Yonit A. Addissie, Daniel E. McGinn et al. · American Journal of Medical Genetics Part A · 2017 · 165 citations · Full text

Ethnicity, Genetics, Genetic Epidemiology +19

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 · 114 citations · Full text

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed et al. · The American Journal of Human Genetics · 2017 · 113 citations · Full text

Genetic Disorder, Genetics, Pathogenesis +3

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 · 76 citations · Full text

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