Kit San Yeung

Association of <i>MTOR</i> Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

Ghayda Mirzaa, Catarina D. Campbell, Nadia Solovieff et al. · JAMA Neurology · 2016 · 276 citations · Full text

Medicine, Molecular Genetics, Pediatrics +17

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 · 116 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 82 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Characterization of Bietti Crystalline Dystrophy Patients with<i>CYP4V2</i>Mutations

Kelvin Y. C. Lee, Adrian H. Koh, Tin Aung et al. · Investigative Ophthalmology & Visual Science · 2005 · 75 citations

Life Sciences, Genetics, Molecular Genetics +13

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 · 68 citations · Full text

Life Sciences, Genetics, Pediatrics +17