Prof. CAO Ye

Current Position:
Research Assistant Professor
(appointed jointly by Dept of Paed and Dept of O&G)

Office Phone:
(852) 3505-2859

Email:
yecao@cuhk.edu.hk

Qualifications:
BMed., M.S., Ph.D., DABMGG, FACMG

Biography:
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 Appointment:
Honorary Scientific Officer, Department of Obstetrics and Gynecology, Prince of Wales Hospital

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1A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report
Ng VKS, Lau TK, Kan ASY, Chung BHY, Luk HM, Ng WF, Shi M, Choy KW, Cao Y, Leung WC
Diagnostics 2021 Aug;11(9): 1576
2Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study
Chan OYM, Leung TY, Cao Y, Shi MM, Kwan AHW, Chung JPW, Choy KW, Chong SC
Hong Kong Med J. 2021 Jun;27(1):177-183
3Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study
Shi M, Liauw AL, Tong S, Zheng Y, Leung TY, Chong SC, Cao Y, Lau TK, Choy KW, Chung JPW
Genes (Basel). 2021 Mar 29;12(4):496
4Clinical utility of expanded non-invasive prenatal screening and chromosomal microarray analysis in high-risk pregnancy
Zhu X, Chen M, Wang H, Guo Y, Chau MHK, Yan H, Cao Y, Kwok YKY, Chen J, Hui ASY, Zhang R, Meng Z, Zhu Y, Leung TY, Xiong L, Kong X, Choy KW
Ultrasound Obstet Gynecol. 2021 Mar;57(3):459-465
5Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegia
Cao Y, Manning M, Pope K, He W, Vetrini F, Siskind C, Rosenfeld JA, Yang Y, Xiao R
Clin Genet. 2021 Mar;99(3):477-480
6The role of chromosomal microarray analysis among fetuses with normal karyotype and single system anomaly or nonspecific sonographic findings
Hui ASY, Chau MHK, Chan YM, Cao Y, Kwan AHW, Zhu X, Kwok YKY, Chen Z, Lao TTH, Choy KW, Leung TY
Acta Obstet Gynecol Scand. 2021 Feb;100(2):235-243
7Noninvasive prenatal sequencing for multiple Mendelian monogenic disorders among fetuses with skeletal dysplasia or increased nuchal translucency
Yan H, Zhu X, Chen J, Cao Y, Kwok YKY, Chen Z, Leung TY, Chen M, Choy KW
Prenat Diagn. 2020 Oct;40(11):1459-1465
8Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review 
Zhu X, Lam DYM, Chau MHK, Xue S, Dai P, Zhao G, Cao Y, Cheung SWH, Kwok YKY, Choy KW, Kong X, Leung TY    
Genes (Basel). 2020 Dec 24;12(1):E11
9Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions            
Gambin T, Liu Q, Karolak JA, Grochowski CM, Xie NG, Wu LR, Yan YH, Cao Y, Coban Akdemir ZH, Wilson TA, Jhangiani SN, Chen E, Eng CM, Muzny D, Posey JE, Yang Y, Zhang DY, Shaw C, Liu P, Lupski JR, Stankiewicz P
Genet Med. 2020 Nov;22(11):1768-1776
10Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders
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
Am J Hum Genet. 2020 Jan 2;106(1):129-136
11Characteristics and mode of inheritance of pathogenic copy number variants in prenatal diagnosis
Chau MHK, Cao Y, Kwok YKY, Chan S, Chan YM, Wang H, Yang Z, Wong HK, Leung TY, Choy KW
American Journal of Obstetrics and Gynecology 2019;221(5):493e1-e11.
12Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage
Dong Z, Yan J, Xu F, Yuan J, Jiang H, Wang H, Chen H, Zhang L, Ye L, Xu J, Shi Y, Yang Z, Cao Y, Chen L, Li Q, Zhao X, Li J, Chen A, Zhang W, Wong HG, Qin Y, Zhao H, Chen Y, Li P, Ma T, Wang WJ, Kwok YK, Jiang Y, Pursley AN, Chung JPW, Hong Yan, Kristiansen K, Yang H, Piña-Aguilar RE, Leung TY, Cheung SW, Morton CC, Choy KW, Chen ZJ
Am J Hum Genet. 2019 Dec 5;105(6):1102-1111
13Prenatal detection of 10q22q23 duplications: dilemmas in phenotype prediction
Kong Grace Wing Shan, Cao Ye, Huang Jin, Cheng Kwun Yue, Pursley Amber Nolen, Rosenfeld Jill Anne, Edwards Janice G., Chan Yiu Man, Cheung Sau Wai, Leung Tak Yeung, Choy Kwong Wai
Prenat Diagn. 2016 Dec;36(13):1211-1216
14SNaPshot Reveals High Mutation and Carrier Frequencies of 15 Common Hearing Loss Mutants in a Chinese Newborn Cohort.
Chen Y, Cao Ye, Li HB, Mao J, Liu MJ, Liu YH, Wang BJ, Jiang D, Zhu Q, Ding Y, Wang W, Li H, Choy KW
Clin Genet 2015;87(5): 467 - 472