Prof. CAO Ye Research Assistant Professor
(852) 3505 3099 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
Detection of genomic variants by genome sequencing in foetuses with central nervous system abnormalities Wang Y, Liu M, Gao Z, Hua C, Jiang J, Zheng Y, Dong Z, Cao Y, Choy KW, Zhu X, Kong X Ann Med. 2024 Dec;56(1):2399317
2
Genome sequencing in the prenatal diagnosis of structural malformations in the fetus Chau MHK, Choolani M, Dong Z, Cao Y, Choy KW Best Pract Res Clin Obstet Gynaecol. 2024 Sep 13:102539
3
Prenatal Diagnosis and Pregnancy Outcomes of Fetuses With Orofacial Cleft: A Retrospective Cohort Study in Two Centres in Hong Kong Li YY, Tse WT, Kong CW, Wong NKL, Leung TY, Choy KW, To WWK, Cao Y Cleft Palate Craniofac J. 2024 Mar;61(3):391-399
4
Prenatal diagnosis of polycystic kidney caused by biallelic hypomorphic variants in the PKD1 gene Zheng Y, Wong L, Kwan AHW, Dong Z, Kwok KY, Choy KW, Dai H, Cao Y Prenat Diagn. 2024 Feb;44(2):247-250
5
Renal and extra-renal phenotypes in a fetus with a de novo pathogenic variant in the HNF1B gene Tse WT, Cao Y, Lam PPH, Law KM, Choy KW, Ting YH Prenat Diagn. 2024 Feb;44(2):251-254
6
Single-cell analysis reveals specific neuronal transition during mouse corticogenesis Zhou Z., Pan Y., Zhou S., Wang S., Zhang D., Cao Y., Jiang X., Li J., Zhu L., Zhao L., Gu S., Lin G., Dong Z., Sun H.X. Front Cell Dev Biol. 2023 Nov 6:11:1209320
7
A Pilot Investigation of Low-pass Genome Sequencing Identifying Site-Specific Variation in Chromosomal Mosaicisms by a Multiple Site Sampling Approach in First-trimester Miscarriages Li Y, Chau MHK, Zhang YX, Zhao YL, Xue SW, Li TC, Cao Y, Dong Z, Choy KW, Chung JPW Hum Reprod. 2023 Aug 1;38(8):1628-1642
8
Low-pass genome sequencing-based detection of paternity: validation in clinical cytogenetics Li K, Zhao Y, Chau MHK, Cao Y, Leung TY, Kwok YK, Choy KW, Dong Z Genes 2023 Jul; 14(7):1357
9
Diagnostic Yield of Exome Sequencing in Fetuses with Sonographic Features of Skeletal Dysplasias but Normal Karyotype or Chromosomal Microarray Analysis: A Systematic Review Tse KY, Surya IU, Irwinda R, Leung KY, Ting YH, Cao Y, Choy KW Genes (Basel). 2023 May 30;14(6)
10
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy Chong SC, Cao Y, Fung ELW, Kleppe S, Gripp KW, Hertecant J, El-Hattab AW, Suleiman J, Clark G, von Allmen G, Rodziyevska O, Lewis RA, Rosenfeld JA, Dong J, Undiagnosed Diseases Network , Wang X, Miller MJ, Bi W, Liu P, Scaglia F Am J Med Genet A 2023 Mar;191(3):776-785
11
Mate-pair genome sequencing reveals structural variants for idiopathic male infertility Dong Z, Qian J, Law TSM, Chau MHK, Cao Y, Xue S, Tong S, Zhao Y, Kwok YK, Ng K, Chan DYL, Chiu PKF, Ng CF, Chung CHS, Mak JSZM, Leung TY, Chung JPW, Morton CC, Choy KW Hum Genet. 2023 Mar;142(3):363-377
12
TEDD: a database of temporal gene expression patterns during multiple developmental periods in human and model organisms Zhou Z, Tan C, Chau MHK, Jiang X, Ke Z, Chen X, Cao Y, Kwok YK, Bellgard M, Leung TY, Choy KW, Dong Z Nucleic Acids Res. 2023 Jan 6;51(D1):D1168-D1178
13
Case report: prenatal recurrent microcephaly and corpus callosum abnormalities in a Chinese family with novel biallelic SASS6 mutations Wah YMI, Cao Y, Law CY, Choy KW, Leung TY, Kwan HWA, Poon LC Fetal Diagn Ther. 2023;50(2):84-91
14
Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects Cao Y, Chau MHK, Zheng Y, Zhao Y, Kwan AHW, Hui SYA, Lam YH, Tan TYT, Tse WT, Wong L, Leung TY, Dong Z, Choy KW Prenat Diagn. 2022 Jun;42(7):862-872. (Impact factor (2022): 3.0, citations: 6
15
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
16
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
17
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
18
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
19
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
20
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
21
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
22
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
23
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
24
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
25
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
26
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
27
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
28
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
29
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.
30
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
31
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.
32
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)
33
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.
34
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
35
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
36
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
37
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
38
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
39
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
40
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