S. T. Chang

The first territory-wide expanded newborn screening for inborn errors of metabolism in Hong Kong: a pilot study

C. Lam, C. Mak, A. Chan, 2017 .

Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.

C. Lam, N. Fong, C. Law, 2015, Clinica chimica acta; international journal of clinical chemistry.

Postzygotic inactivating mutation of KIF13A located at chromosome 6p22.3 in a patient with a novel mosaic neuroectodermal syndrome

C. Lam, S. T. Chang, Ka-chung Wong, 2021, Journal of Human Genetics.