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Doctor Chau Hoi Kin Matthew

Research Assistant Professor,
Department of Obstetrics and Gynaecology, CUHK

Research Theme

Genetics & Genomics

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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.

  • 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
 
  • Implementing novel sequencing-based genetic and genomic diagnostic methodologies
  • Investigating challenging and underrepresented variant types in the human genome causing genetic conditions
  • Uncovering novel disease-gene associations
 
  • Laboratory genetic diagnostics
  • Medical genetics
  • Preimplantation genetic testing
 
  • American Board of Medical Genetics and Genomics, Eligible in Laboratory Genetics and Genomics
  • 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)
  • Scientific Officer (Medical), Hospital Authority New Territories East Cluster
  • 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)
  • Teaching faculty of the Master in Science in Medical Genetics (CUHK)
  • Co-supervision of one PhD student

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

Selected Publications:

  • 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. Detection of clinically relevant monogenic copy-number variants by a comprehensive genome-wide microarray with exonic coverage. Clinical Chemistry [first and corresponding author, in press, accepted 18/10/2024]
  • Chau MHK, Choolani M, Dong Z, Cao Y, Choy KW. Genome sequencing in the prenatal diagnosis of structural malformations in the fetus. Best Pract Res Clin Obstet Gynaecol. 2024 Sep 13:102539. doi: 10.1016/j.bpobgyn.2024.102539. Epub ahead of print. PMID: 39327108.
  • Li K*, Wang H*, Chau MHK*, Dong Z, Cao Y, Zheng Y, Leung TY, Choy KW, Zhu Y. Contribution of Genomic Imbalance in Prenatal Congenital Anomalies of the Kidney and Urinary Tract: A Multi-Center Cohort Study. Prenat Diagn. 2024 Oct 3. doi: 10.1002/pd.6674
  • Li Y, Chau MHK, Zhang YX, Zhao Y, Xue S, Li TC, Cao Y, Dong Z, Choy KW, Chung JPW. 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. Hum Reprod. 2023 Aug 1;38(8):1628-1642.
  • K Li, Y Zhao, MHK Chau, Y Cao, TY Leung, YK Kwok, KW Choy, Z Dong. Low-Pass Genome Sequencing-Based Detection of Paternity: Validation in Clinical Cytogenetics. Genes 14 (7), 1357, 2023.
  • Zhou Z, Tan C, Chau MHK, Jiang X, Ke Z, Chen X, Cao Y, Kwok YK, Bellgard M, Leung TY, Choy KW, Dong Z. TEDD: a database of temporal gene expression patterns during multiple developmental periods in human and model organisms. Nucleic Acids Research 2023, 51 (D1), D1168-D1178.
  • 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. Mate-pair genome sequencing reveals structural variants for idiopathic male infertility. Hum Genet 2022 Dec 16.
  • Chau MHK*, Li Y*, Dai P, Shi M, Zhu X, Chung JPW, Kwok YK, Choy KW, Kong X, Dong Z. Investigation of the genetic etiology in male infertility with apparently balanced chromosomal structural rearrangements by genome sequencing. Asian J Androl 2022 May-Jun;24(3):248-254.
  • 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. Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects. Prenat Diagn. 2022 Jun;42(7):862-872. (Impact factor (2022): 3.0, citations: 6)
  • Mitchell CO, Rivera-Cruz G, Chau MHK, Dong Z, Choy KW, Shen J, Amr S, Giersch ABS, Morton CC. The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing. Int J Neonatal Screen 2022 May 27;8(2):36.
  • 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. Low-pass genome sequencing: a validated method in clinical cytogenetics. Human Genetics 2020, 139(11):1403-1415.
  • Chau MHK*, Qian J*, Chen Z, Li Y, Zheng Y, Tse WT, Kwok YK, Leung TY, Dong Z, Choy KW. Trio-based low-pass genome sequencing reveals characteristics and significance of rare copy number variants in prenatal diagnosis. Frontiers in Genetics 2021; 12: 742325.
  • Chau MHK & Choy KW. The role of chromosomal microarray and exome sequencing in prenatal diagnosis. Current Opinion in Obstetrics and Gynecology 2021. Apr 1;33(2):148-155.
  • Cao Y, Luk HM, Zhang Y, Chau MHK, Xue S, Cheng SSW, Li AM, Chong JSC, Leung TY, Dong Z, Choy KW, Lo IFM. Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders. Front Genet. 2022 Apr 14;13:803088.
  • Dong Z*, Chau MHK*, Zhang Y*, Dai P, Zhu X, Leung TY, Kong X, Kwok YK, Stankiewicz P, Cheung SW, Choy KW. Deciphering the complexity of simple chromosomal insertions by genome sequencing. Human Genetics 2021, 140:361–380.
  • Dong Z*, Chau MHK*, Zhang Y*, Yang Z, Shi M, Wah YM, Kwok YK, Leung TY, Morton CC, Choy KW. Low-pass genome sequencing–based detection of absence of heterozygosity: validation in clinical cytogenetics. Genetics in Medicine 2021, 23:1225-1233.
  • Hui AS*, Chau MHK*, Chan YM*, Cao Y, Kwan AH, Zhu X, Kwok YK, Chen Z, Lao TT, Choy KW, Leung TY. The role of chromosomal microarray analysis among fetuses with normal karyotype and single system anomaly or nonspecific sonographic findings. Acta Obstetricia et Gynecologica Scandinavica 2021, 100(2):235-243.
  • Zhu X, Lam DYM, Chau MHK, Xue S, Dai P, Zhao G, Cao Y, Cheung SWH, Kwok YKY, Choy KW, Kong X, Leung TY. Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review. Genes 2021, 12(1),11.
  • Lin Y, Wang H, Chau MHK, Lou J, Zeng X, Liang Y, et al. Contribution of Pathogenic CNVs and Noonan Syndrome in Fetuses with Increased Nuchal Translucency and Persistently Increased Nuchal Fold. Austin J Obstet Gynecol. 2021; 8(3): 1174.
  • Chau MHK*, Lam YKD*, Zhu X*, Kwok YKY, Ting YH, Chan WP, Shi M, Cheung WH, Lau TK, Ville Y, Leung TY, Choy KW. The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome. Prenatal Diagnosis 2020, 40:1005–1012.
  • Chau MHK, Cao Y, Kwok KYK, 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. American Journal of Obstetrics and Gynecology 2019, 221(5):493e1-e11.
  • Wang H*, Z Dong*, R Zhang*, Chau MHK*, Yang Z, Tsang KYC, et al. Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis. Genetics in Medicine 2020, 22:500–510.
  • 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. Clinical utility of expanded noninvasive prenatal screening and chromosomal microarray analysis in high-risk pregnancies. Ultrasound in Obstetrics and Gynecology 2021, 57(3):459-465. (Impact factor (2022): 7.1, citations: 18)
  • Chau MHK, Sahota DS, KW Choy. Reply: Clinical utility of noninvasive prenatal screening for pathogenic copy number variants. American Journal of Obstetrics and Gynecology 2019, 221(6):661-6.
  • 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. Frontiers in Genetics 2019, 10:761.
  • Wang H, Chau MHK, Cao Y, Kwok KY, Choy KW. Chromosome copy number variants in fetuses with syndromic malformations. Birth Defects Research 2017, 109(10):725-733.

*These authors contributed equally