Sau Wai Cheung

Chinese University of Hong Kong — China

Biochemistry, Genetics and Molecular Biology · Life Sciences

75h-index18.6kcitations273works0.82yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(183), Prenatal Screening and Diagnostics(84), Congenital heart defects research(59), Genetics and Neurodevelopmental Disorders(59), Chromosomal and Genetic Variations(56)

Publications271 total

Clinical validation of artificial intelligence-assisted karyotyping on peripheral blood in a cytogenetic diagnostic laboratory
Human Genetics·2025Open Access
Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage
Clinical Chemistry·2025· 2 cited
Genomic Detection and Delineation of Chromoanasynthesis by Mate-Pair Sequencing
Methods in molecular biology·2025
P593: Detection of single-gene copy-number variations through high-resolution exon-targeted chromosomal microarray analysis
Genetics in Medicine Open·2024· 1 citedOpen Access
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences
Journal of Medical Genetics·2022
eP462: Detection of clinically relevant exonic copy number changes in fetuses by chromosomal microarray analysis
Genetics in Medicine·2022Open Access
Noninvasive prenatal screening for fetal sex chromosome aneuploidies
Expert Review of Molecular Diagnostics·2021· 33 cited
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications
UNC Libraries·2020· 1 citedOpen Access
Cytogenetically visible inversions are formed by multiple molecular mechanisms
Human Mutation·2020· 26 citedOpen Access
Deciphering the complexity of simple chromosomal insertions by genome sequencing
Human Genetics·2020· 29 cited
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
Genetics in Medicine·2020· 67 citedOpen Access
Parental somatic mosaicism for CNV deletions – A need for more sensitive and precise detection methods in clinical diagnostics settings
Genomics·2020· 18 citedOpen Access
Inside Back Cover, Volume 41, Issue 1
Human Mutation·2019
Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage
The American Journal of Human Genetics·2019· 103 citedOpen Access
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome
Human Mutation·2019· 26 citedOpen Access
Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis
Genetics in Medicine·2019· 140 citedOpen Access
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
Genome Medicine·2019· 69 citedOpen Access
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome
Genome Medicine·2019· 31 citedOpen Access
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay
Genetics in Medicine·2019· 8 citedOpen Access
Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1–2 (BP1–BP2) in a large cohort of samples referred for genetic diagnosis
Journal of Human Genetics·2018· 14 cited
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Frequent Co-authors

Ankita Patel(26), James R. Lupski(22), Paweł Stankiewicz(22), Arthur L. Beaudet(17), Chad A. Shaw(16), Carlos A. Bacino(14), Trilochan Sahoo(13), Seema R. Lalani(13), Sung-Hae L. Kang(9), Amber N. Pursley(9), A. Craig Chinault(9), Weimin Bi(8), Christian P. Schaaf(7), Daniela del Gaudio(6), Marwan Shinawi(6), Fernando Scaglia(6), Zhilian Xia(6), V. Reid Sutton(6), Patricia A. Ward(6), Jonathan S. Berg(5)