Steven Lim Cho Pei

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

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

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Christopher Chun Yu Mak, Dan Doherty, Angela E. Lin et al. · Brain · 2019 · 52 citations · Full text

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

Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

Annie Ting Gee Chiu, Steven Lim Cho Pei, Christopher Chun Yu Mak et al. · Clinical Genetics · 2017 · 43 citations