Ho‐Ming Luk

NSD1 mutations generate a genome-wide DNA methylation signature

Sanaa Choufani, Cheryl Cytrynbaum, Brian Hon‐Yin Chung et al. · Nature Communications · 2015 · 206 citations · Full text

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C. Oates, Kristi Jones, Sandra Donkervoort et al. · Annals of Neurology · 2018 · 152 citations · Full text

Angelman syndrome in Hong Kong Chinese: A 20 years’ experience

Ho‐Ming Luk, Ivan F. M. Lo · European Journal of Medical Genetics · 2016 · 47 citations

East Asian Languages, Hong Kong Chinese, Language Studies +1

Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort

Wilson Chong, Ivan F. M. Lo, Stephen Tak Sum Lam et al. · Molecular Cytogenetics · 2014 · 44 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