Matthew Hoi Kin Chau
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Explore the profile of Matthew Hoi Kin Chau including associated specialties, affiliations and a list of published articles.
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25
Citations
188
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Recent Articles
1.
Qian J, Wang H, Liang H, Zheng Y, Yu M, Tse W, et al.
Clin Chem
. 2025 Jan;
71(1):155-168.
PMID: 39749521
Background: Mate-pair sequencing detects both balanced and unbalanced structural variants (SVs) and simultaneously informs in relation to both genomic location and orientation of SVs for enhanced variant classification and clinical...
2.
Chau M, Anderson S, Song R, Cooper L, Ward P, Yuan B, et al.
Clin Chem
. 2025 Jan;
71(1):141-154.
PMID: 39749505
Background: Disease-causing copy-number variants (CNVs) often encompass contiguous genes and can be detected using chromosomal microarray analysis (CMA). Conversely, CNVs affecting single disease-causing genes have historically been challenging to detect...
3.
Li K, Wang H, Chau M, Dong Z, Cao Y, Zheng Y, et al.
Prenat Diagn
. 2024 Oct;
44(12):1451-1461.
PMID: 39363241
Objectives: To investigate the diagnostic utility of copy-number variant (CNV) detection by chromosomal microarray analysis (CMA) and genotype-phenotype associations in prenatal congenital anomalies of the kidney and urinary tract (CAKUT)....
4.
Chau M, Choolani M, Dong Z, Cao Y, Choy K
Best Pract Res Clin Obstet Gynaecol
. 2024 Sep;
97:102539.
PMID: 39327108
Prenatal genetic diagnosis has undergone two pivotal paradigm shifts, initially with the introduction of chromosomal microarray and subsequently with the advent of next-generation sequencing technologies (NGS). NGS technology has given...
5.
Li K, Zhao Y, Chau M, Cao Y, Leung T, Kwok Y, et al.
Genes (Basel)
. 2023 Jul;
14(7).
PMID: 37510263
Submission of a non-biological parent together with a proband for genetic diagnosis would cause a misattributed parentage (MP), possibly leading to misinterpretation of the pathogenicity of genomic variants. Therefore, a...
6.
Li Y, Chau M, Zhang Y, Zhao Y, Xue S, Li T, et al.
Hum Reprod
. 2023 May;
38(8):1628-1642.
PMID: 37218343
Study Question: Can multiple-site low-pass genome sequencing (GS) of products of conception (POCs) improve the detection of genetic abnormalities, especially heterogeneously distributed mosaicism and homogeneously distributed mosaicism in first-trimester miscarriage?...
7.
Dong Z, Qian J, Law T, Chau M, Cao Y, Xue S, et al.
Hum Genet
. 2022 Dec;
142(3):363-377.
PMID: 36526900
Currently, routine genetic investigation for male infertility includes karyotyping analysis and PCR for Y chromosomal microdeletions to provide prognostic information such as sperm retrieval success rate. However, over 85% of...
8.
Zhou Z, Tan C, Chau M, Jiang X, Ke Z, Chen X, et al.
Nucleic Acids Res
. 2022 Nov;
51(D1):D1168-D1178.
PMID: 36350663
Characterization of the specific expression and chromatin profiles of genes enables understanding how they contribute to tissue/organ development and the mechanisms leading to diseases. Whilst the number of single-cell sequencing...
9.
Mitchell C, Rivera-Cruz G, Chau M, Dong Z, Choy K, Shen J, et al.
Int J Neonatal Screen
. 2022 Jun;
8(2).
PMID: 35735787
Recent advances in genomic sequencing technologies have expanded practitioners' utilization of genetic information in a timely and efficient manner for an accurate diagnosis. With an ever-increasing resource of genomic data...
10.
Cao Y, Luk H, Zhang Y, Chau M, Xue S, Cheng S, et al.
Front Genet
. 2022 May;
13:803088.
PMID: 35495136
Structural variations (SVs) are various types of the genomic rearrangements encompassing at least 50 nucleotides. These include unbalanced gains or losses of DNA segments (copy number changes, CNVs), balanced rearrangements...