Telephone (office): (852) 3505-2859


Publons: ABF-4282-2020

Professor CAO Ye

  • Research Assistant Professor, Department of Paediatrics & Department of Obstetrics and Gynecology



Dr. Ye 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.

Dr. Cao 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.

Research Interests

  • Development and Clinical application of Exome & Genome sequencing, chromosome microarray

  • Genomic identification and functional characterization of disease-causing genes

  • Constitutional mosaicism in the human diseases and traits

  • Medical genetics and genomics

Honorary Appointments

  • Honorary Scientific Officer, Department of Obstetrics and Gynecology, Prince of Wales Hospital

Selected Publications

  1. Szot JO, Campagnolo C, Cao Y, Iyer KR, Cuny H, Drysdale T, Flores-Daboub JA, Bi W, Westerfield L, Liu P, Leung TN, Choy KW, Chapman G, Xiao R, Siu VM, Dunwoodie SL. Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. Am J Hum Genet. 2020 Jan 2;106(1):129-136.

  2. Cao Y, Tokita MJ, Chen ES, Ghosh R, Chen T, Feng Y, Gorman E, Gibellini F, Ward PA, Braxton A, Wang X, Meng L, Xiao R, Bi W, Xia F, Eng CM, Yang Y, Gambin T, Shaw C, Liu P, Stankiewicz P. A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing. Genome Med. 2019 Jul 26;11(1):48.

  3. Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, MorenoPelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN; ClinGen Hearing Loss Working Group. Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. Genet Med. 2019 Nov;21(11):2442-2452

  4. Yeung QSY, Zhang YX, Chung JPW, Lui WT, Kwok YKY, Gui B, Kong GWS, Cao Y, Li TC, Choy KW. A prospective study of non-invasive preimplantation genetic testing for aneuploidies (NiPGT-A) using next-generation sequencing (NGS) on spent culture media (SCM). J Assist Reprod Genet. 2019 Aug;36(8):1609-1621.

  5. Choy KW, Wang H, Shi M, Chen J, Yang Z, Zhang R, Yan H, Wang Y, Chen S, Chau MHK, Cao Y, Chan OYM, Kwok YK, Zhu Y, Chen M, Leung TY, Dong Z. Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis. Front Genet. 2019 Aug 16;10:761.

  6. Chau MHK, Cao Y, Yvonne Kwok KY, Chan S, Chan YM, Wang H, Yang Z, Wong HK, Leung TY, Choy KW. Characteristics and mode of inheritance of pathogenic copy number variants in prenatal diagnosis. Am J Obstet Gynecol. 2019 Jun 14. pii: S0002-9378(19)30771-9. doi: 10.1016/j.ajog.2019.06.007.

  7. Mohan KN, Cao Y, Pham J, Cheung SW, Hoffner L, Ou ZZ, Surti U, Cook EH, Beaudet AL.Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis. J Hum Genet. 2019 Mar;64(3):253-255.

  8. Wong CW, Or PMY, Wang Y, Li L, Li J, Yan M, Cao Y, Luk HM, Tong TMF, Leslie NR, Lo IF, Choy KW, Chan AML. Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly. Autism Res. 2018 Aug;11(8):1098-1109.

  9. Kong GW, Cao Y, Huang J, Cheng KY, Pursley AN, Rosenfeld JA, Edwards JG, Chan YM, Cheung SW, Leung TY, Choy KW. Prenatal detection of 10q22q23 duplications: dilemmas in phenotype prediction. Prenat Diagn. 2016 Dec;36(13):1211-1216.

  10. Cao Y, Li Z, Rosenfeld JA, Pursley AN, Patel A, Huang J, Wang H, Chen M, Sun X, Leung TY, Cheung SW, Choy KW. Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study. Genet Med. 2016 Oct;18(10):1052-5.