Doctor CAO Ye

CUHK Employment

Research Assistant Professor,
Department of Obstetrics and Gynaecology

Phone Number

+852 3505 3099


Dr. Cao obtained her PhD degree and had her postdoctoral training in the Department of Obstetrics and Gynecology, The Chinese University of Hong Kong. After that, she completed a two-year American Board of Medical Genetics and Genomics (ABMGG)-accredited fellowship in the Molecular and Human Genetics, Baylor College of Medicine, TX, USA. She then took up an academic post with CUHK in 2019. She has established research interests in various aspects of medical genetics and genomics, including understanding the etiology of genomic disorders such as birth defects, neurodevelopmental disorders, infertility on a molecular basis, discovering the novel disease-causing genes, investigating the how the somatic mosaicism of SNVs and CNVs that contribute to the human diseases and traits.


Ph.D, M.S., Bachelor in Medicine

Research Interest

  • Development and Clinical translational research of novel approaches to improve genomic medicine
  • Identification and functional characterization of human disease genes associated with congenital birth defect, neurodevelopmental disorders.
  • Constitutional mosaicism in the human diseases and traits


Genomic medicine


Fellow, American College of Medical Genetics and Genomics, USA, 10/2019-present

Awards and Honours

  • Travel Grant Award for the 13th International Congress of Human Genetics, Kyoto, Japan, 02016
  • Global Scholarship, The Chinese University of Hong Kong, 2013


Honorary Appointment

  • Honorary Scientific officer, Hospital Authority

Professional Service

  • Honorary Secretory, Hong Kong Society of Medical Genetics, Hong Kong, 2023-present
  • Member, Hong Kong Society of Genetic Counselling, Hong Kong, 2022-present
  • Member, Hong Kong Society of Cytogenomics, Hong Kong, 2022-present
  • Member, American Society of Human Genetics, Hong Kong, 2018-present
  • Member, American College of Medical Genetics and Genomics, USA, 2018-present


  • Cao Y, Chau MHK, Zheng Y, et al. Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects. Prenat Diagn. 2022 Jun;42(7):862-872.
  • Cao Y, Luk HM, Zhang Y et al. Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders. Front Genet. 2022 Apr 14;13:803088.
  • Cao Y, Manning M, Pope K, et al. Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegia. Clin Genet. 2021 Mar;99(3):477-480.
  • Cao Y, Tokita MJ, Chen ES, et al. A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing. Genome Med. 2019 Jul 26;11(1):48.
  • Cao Y, Li Z, Rosenfeld JA, et al. Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study. Genet Med. 2016 Oct;18(10):1052-5.