The Chinese University of Hong Kong & Prince of Wales Hospital

Department of Obstetrics and Gynaecology
CHUK Facebook icon CHUK Instagram icon CHUK Twitter icon CHUK Youtube icon

Prof. CHAU Hoi Kin Matthew

Prof. CHAU Hoi Kin, Matthew Research Assistant Professor
(852) 3505 1538 matthewchau@cuhk.edu.hk

Qualifications

ABMGG Board Eligible (Laboratory Genetics and Genomics), PhD (O&G), MSc (Medical Genetics), BSc(Biology)

Biography

Dr Chau completed his MSc in Medical Genetics and obtained his PhD degree at the Department of Obstetrics and Gynaecology, CUHK. Subsequently, He completed a two-year American Board of Medical Genetics and Genomics accredited Laboratory Genetics and Genomics Fellowship at Baylor College of Medicine, Houston, Texas, USA. He is a laboratory molecular geneticist and cytogeneticist specializing in laboratory diagnostics and the development and implementation of novel genome sequencing-based methodologies for clinical testing. His research focuses on investigating human chromosomal structural variants, particularly those that are challenging and underrepresented in genetic diagnostics. Additionally, he investigates novel gene-disease associations through long-read genome sequencing of cases that remain undiagnosed, including prenatal, postnatal, and miscarriage cases.

Education

  • Laboratory Genetics and Genomics Fellow, Baylor College of Medicine (American Board of Medical Genetics and Genomics)
  • PhD in Obstetrics and Gynaecology, The Chinese University of Hong Kong
  • MSc in Medical Genetics, The Chinese University of Hong Kong
  • BSc in Biology, University of British Columbia

Research Interest(s)

(1) implementing novel sequencing-based genetic and genomic diagnostic methodologies

(2) investigating challenging and underrepresented variant types in the human genome causing genetic conditions

(3) uncovering novel disease-gene associations

Specialisations

  • Laboratory genetic diagnostics
  • Medical Genetics
  • Preimplantation genetic testing

Qualifications

American Board of Medical Genetics and Genomics, Board Eligible in Laboratory Genetics and Genomics

Awards and Honours

• Best Laboratory Fellow Award, Department of Molecular and Human Genetics, Baylor College of Medicine (2024)
• Reviewer’s Choice Award, top 10% of poster abstracts, American Society of Human Genetics (2023)
• Research Committee’s One-off Impact Postdoctoral Fellowship Scheme (IPDFS), The Chinese University of Hong Kong, HKSAR (2021)
• Reaching Out Award, HKSAR Government Scholarship Fund (2021)
• Best Postgraduate Student of the Department of Obstetrics and Gynaecology, CUHK (2021)
• Best Postgraduate Student of the Department of Obstetrics and Gynaecology, CUHK (2020)
• Best Postgraduate Student of the Department of Obstetrics and Gynaecology, CUHK (2019)
• Dragon Culture PhD Scholarship for Medical Studies (2019/2020)
• Silver Medal, Genetics Proficiency Test, Medical Genomics in the New Millennium Course Department of Molecular and Human Genetics, Baylor College of Medicine (2019)
• Best Scientific Paper by Teamwork, The Department of Obstetrics and Gynaecology, CUHK (2018)

Others

  1. Honorary Appointment
    • Scientific Officer (Medical), Hospital Authority New Territories East Cluster
  2. Professional Service/memberships
    • Member, American Society of Human Genetics
    • Member, American College of Medical Genetics and Genomics
    • Member, The Association of Chinese Geneticists in America
    • Fellow, Hong Kong Society of Cytogenomics
    • Honorary Advisor, Hong Kong Medical Genetics and Genomics Student Society (2024-2025)
  3. Academic Engagement
    • Teaching faculty of the Master in Science in Medical Genetics (CUHK)
    • Co-supervision of one PhD student

Patent

Methods of using algorithmic analysis to determine maternity, paternity, or parentage and computer systems for implementation thereof. Provisional US Patent: 63/504,845

Researcher ID

Web of Science Researcher ID: GMX-0787-2022

https://orcid.org/0000-0002-0945-1938

1
Detection of clinically relevant monogenic copy-number variants by a comprehensive genome-wide microarray with exonic coverage Chau MHK, Anderson SA, Song R, Cooper L, Ward PA, Yuan B, Shaw C, Stankiewicz PT, Cheung SW, Vossaert L, Owen NM, Smith J, Bacino CA, Schulze KV, Bi W Clin Chem. 2025 Jan 3;71(1):141-154
2
Detection of clinically relevant monogenic copy-number variants by a comprehensive genome-wide microarray with exonic coverage 1 Chau MHK, Anderson SA, Song R, Cooper L, Ward PA, Yuan B, Shaw C, Stankiewicz P, Cheung SW, Vossaert L, Owen NM, Smith J, Bacino CA, Schulze KV, Bi W Clinical Chemistry, Volume 71, Issue 1, January 2025, Pages 141–154
3
Mate-pair Sequencing Enables Identification and Delineation of Balanced and Unbalanced Structural Variants in Prenatal Cytogenomic Diagnostics Qian J, Wang H, Liang H, Zheng Y, Yu M, Tse WT, Kwan AHW, Wong L, Wong NKL, Wah IYM, Lau SL, Hui ASY, Chau MHK, Chen X, Zhang R, Poon L C, Leung TY, Liu P, Choy KW, Dong Z Clin Chem. 2025 Jan 3;71(1):155-168
4
Contribution of Genomic Imbalance in Prenatal Congenital Anomalies of the Kidney and Urinary Tract: A Multi-Center Cohort Study Li K, Wang H, Chau MHK, Dong Z, Cao Y, Zheng Y, Leung TY, Choy KW, Zhu Y Prenat Diagn. 2024 Nov;44(12):1451-1461
5
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
6
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
7
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
8
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
9
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
10
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
11
Investigation of the genetic etiology in male infertility with apparently balanced chromosomal structural rearrangements by genome sequencing Chau MHK, Li Y, Dai P, Shi M, Zhu X, Chung JPW, Kwok YK, Choy KW, Kong X, Dong Z Asian J Androl. May-Jun 2022;24(3):248-254
12
The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing Mitchell CO, Rivera-Cruz G, Chau MHK, Dong Z, Choy KW, Shen J, Amr S, Giersch ABS, Morton CC Int J Neonatal Screen. 2022 May 27;8(2):36
13
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
14
Trio-Based Low-Pass Genome Sequencing Reveals Characteristics and Significance of Rare Copy Number Variants in Prenatal Diagnosis Chau MHK, Qian J, Chen Z, Li Y, Zheng Y, Tse WT, Kwok YK, Leung TY, Dong Z, Choy KW Front Genet. 2021 Sep 20;12:742325
15
Contribution of Pathogenic CNVs and Noonan Syndrome in Fetuses with Increased Nuchal Translucency and Persistently Increased Nuchal Fold Lin Y, Wang H, Chau MHK, Lou J, Zeng X, Liang Y, et al. Austin J Obstet Gynecol. 2021; 8(3): 1174
16
Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics Dong Z, Chau MHK, Zhang Y, Yang Z, Shi M, Wah YMI, Kwok YK, Leung TY, Morton C, Choy KW Genet Med. 2021 Jul;23(7):1225-1233
17
The role of chromosomal microarray and exome sequencing in prenatal diagnosis Chau MHK, Choy KW Curr Opin Obstet Gynecol. 2021 Apr 1;33(2):148-155
18
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
19
Deciphering the complexity of simple chromosomal insertions by genome sequencing Dong Z, Chau MHK, Zhang Y, Dai P, Zhu X, Leung TY, Kong X, Kwok YK, Stankiewicz P, Cheung SW, Choy KW Hum Genet. 2021 Feb;140(2):361-380
20
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
21
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
22
Low-pass genome sequencing: a validated method in clinical cytogenetics. Chau MHK, Wang H, Lai Y, Zhang Y, Xu F, Tang Y, Wang Y, Chen Z, Leung TY, Chung JPW, Kwok YK, Chong SC, Choy KW, Zhu Y, Xiong L, Wei W, Dong Z Hum Genet. 2020 Nov;139(11):1403-1415
23
The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome Chau MHK, Lam YKD, Zhu X, Kwok YKY, Ting YH, Chan WP, Shi M, Cheung WH, Lau TK, Ville Y, Leung TY, Choy KW Prenat Diagn. 2020 Jul;40(8):1005-1012
24
Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis Wang H, Dong Z, Zhang R, Chau MHK, Yang Z, Tsang K, Wong HK, Gui B, Meng Z, Xiao K, Zhu X, Wang Y, Chen S, Leung TY, Cheung SW, Kwok YK, Morton CC, Zhu Y, Choy KW Genet Med, 2020 Mar;22(3):500-510
25
Clinical utility of noninvasive prenatal screening for pathogenic copy number variants REPLY Chau MHK, Sahota DS, Choy KW Am J Obstet Gynecol. 2019 Dec;221(6):661-662.
26
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)
27
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.
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