Kit San Yeung
University of the Sciences(US)Chinese University of Hong Kong(HK)Hong Kong America Center(CN)University of Hong Kong(HK)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Systemic Lupus Erythematosus Research, Mitochondrial Function and Pathology, Genetic Syndromes and Imprinting
Most-Cited Works
- → Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism(2016)275 cited
- → Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism(2017)114 cited
- → A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis(2020)80 cited
- → Characterization of Bietti Crystalline Dystrophy Patients withCYP4V2Mutations(2005)74 cited
- → Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs(2020)67 cited
- → Somatic PIK3CA mutations in seven patients with PIK3CA‐related overgrowth spectrum(2017)