The Chinese University of Hong Kong & Prince of Wales Hospital

Department of Obstetrics and Gynaecology

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Prof. Cao Ye

Prof. Cao Ye Research Assistant Professor
(852) 3505 2859 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

1
Expanded 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.
2
Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: Shi M, Liauw AL, Tong S, Zheng Y, Leung TY, Chong SC, Cao Y, Lau TK, Choy KW, Chung JPW. A Chinese Cohort Study. Genes (Basel). 2021 Mar 29;12(4):496
3
Genome 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 Y, 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.
4
A prospective study of non-invasive preimplantation genetic testing for aneuploidies (NiPGT-A) using next-generation sequencing (NGS) on spent culture media (SCM). Yeung QSY, Zhang YX, Chung JPW, Lui WT, Kwok YKY, Gui B, Kong GWS, Cao Y, Li TC, Choy KW. J Assist Reprod Genet. 2019 Aug;26(8);1609-1621.
5
Investigation of chromosomal structural abnormalities in patients with undiagnosed neurodevelopmental disorders Cao Y, Luk HM, Zhang YY, Chau MHK, Xue S, Cheng SSW, Li AM, Chong JSC, Leung TY, Dong Z, Choy KW, Lo IFM Front Genet. 2022 Apr 14;13:803088
6
International Urogynaecology Consultation chapter 1 committee 4: patients’ perception of disease burden of pelvic organ prolapse Robinson D, Prodigalidad LT, Chan S, Serati M, Lozo S, Lowder J, Ghetti C, Hullfish K, Hagen S, Dumoulin C Int Urogynecol J. 2022 Feb;33(2):189-210
7
Whole-genome sequencing of genetically undiagnosed euploid fetuses with increased nuchal translucency: abridged secondary publication Choy RKW, Cao Y, Lo FM, Cheung SW, Yang Y, Leung TY Hong Kong Med J. 2022 Feb;28 Suppl 1(1):8-10
8
A 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
9
Expanded 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
10
Kidney Biopsy in Patients with Monoclonal Gammopathy: A Multicenter Retrospective Cohort Study Nie S, Wang M, Wan Q, Kong Y, Ou J, Jia N, Zhang X, Luo F, Liu X, Wang L, Cao Y, Chen R, Zhao M, Chan DYL, Wang G Front Med (Lausanne). 2021 May 24;8:687149
11
Clinical 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
12
Clinical 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
13
Genotype-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
14
The 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
15
Clinical 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
16
Low-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
17
Noninvasive 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
18
Bi-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
19
A prospective study of non-invasive preimplantation genetic testing for aneuploidies (NiPGT-A) using next-generation sequencing (NGS) on spent culture media (SCM) Yeung QSY, Zhang YX, Chung JPW, Lui WT, Kwok YKY, Gui B, Kong GWS, Cao Y, Li TC, Choy KW J Assist Reprod Genet. 2019 Aug;36(8):1609-1621
20
Prenatal Diagnosis of Fetuses with Increased Nuchal Translucency by Genome Sequencing Analysis 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 YKY, Zhu Y, Chen M, Leung TY, Dong Z Front Genet. 2019 Aug; volume 10:761 (14 pages)
21
Genome 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
22
Consensus interpretation of the p.Met34Thr and p.Val37Ilevariants in GJB2 by the ClinGen Hearing Loss Expert Panel Shen J, Oza AM, Castillo Del, 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, Choy KW, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo 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. Genet Med. 2019 Nov;21(11):2442-2452
23
Characteristics 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.
24
YY1 regulates skeletal muscle regeneration through controlling metabolic reprogramming of satellite cells Chen FY, Zhou JJ, Li YY, Zhao Y, Yuan J, Cao Y, Wang LJ, Zhang ZK, Zhang BT, Wang CC, Cheung T, Wu ZG, Wong CCL, Sun H, Wang HT EMBO J. 2019 May 15;38(10). pii: e99727
25
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 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 Autism Res. 2018 Aug;11(8):1098-1109
26
Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics Dong Z, Wang H, Chen H, Jiang H, Yuan J, Yang Z, Wang WJ, Xu F, Guo X, Cao Y, Zhu Z, Geng C, Cheung CWC, Kwok YKY, Yang H, Leung TY, Morton CC, Cheung SW, Choy KW Genet Med. 2018 Jul;20(7):697-707
27
Target-enriched massively parallel sequencing for genetic diagnosis of hereditary hearing loss in patients with normal array CGH result Choy KW, Cao Y, Lam STS, Lo FM, Morton CC, Leung TY Hong Kong Med J. 2018 Jun;24 Suppl 3(3):11-14
28
Chromosome copy number variants in fetuses with syndromic malformations Wang H, Chau MHK, Cao Y, Kwok KY, Choy KW Birth Defects Res. Jun 2017 ;109(10):725-733
29
Prenatal detection of 10q22q23 duplications: dilemmas in phenotype prediction Kong GWS, Cao Y, Huang J, Cheng KY, Pursley AN, Rosenfeld JA, Edwards J G, Chan YM, Cheung SW, Leung TY, Choy KW Prenat Diagn. 2016 Dec;36(13):1211-1216
30
SNaPshot 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