Sau Wai Cheung spends much of his time researching Genetics, Gene duplication, Comparative genomic hybridization, Copy-number variation and Breakpoint. His work in Genome, Human genome, Hypotonia, Intellectual disability and Gene are all subfields of Genetics research. The Gene duplication study combines topics in areas such as Gene rearrangement, Low copy repeats, Trisomy, Human genetics and Epilepsy.
His Comparative genomic hybridization research is multidisciplinary, incorporating elements of Fluorescence in situ hybridization, Karyotype, Microcephaly and Bacterial artificial chromosome. The various areas that Sau Wai Cheung examines in his Copy-number variation study include Bioinformatics and Pathology. His work investigates the relationship between Chromosome and topics such as Phenotype that intersect with problems in Regulation of gene expression.
Sau Wai Cheung focuses on Genetics, Comparative genomic hybridization, Gene duplication, Copy-number variation and Chromosome. His works in Gene, Phenotype, Breakpoint, Haploinsufficiency and Genome are all subjects of inquiry into Genetics. His work in Phenotype addresses subjects such as Intellectual disability, which are connected to disciplines such as Hypotonia and Speech delay.
Sau Wai Cheung works mostly in the field of Comparative genomic hybridization, limiting it down to topics relating to Fluorescence in situ hybridization and, in certain cases, Chromosomal translocation and Molecular biology, as a part of the same area of interest. His Gene duplication study combines topics in areas such as Gene rearrangement and Microcephaly. His study looks at the intersection of Copy-number variation and topics like Prenatal diagnosis with Obstetrics.
His main research concerns Genetics, Copy-number variation, Breakpoint, Gene and Chromosomal translocation. His study in Exome sequencing, Genetic heterogeneity, Proband, Non-homologous end joining and Phenotype is carried out as part of his studies in Genetics. His work deals with themes such as Microarray analysis techniques, Internal medicine, Confidence interval and Prenatal diagnosis, which intersect with Copy-number variation.
His research integrates issues of Intellectual disability, Contiguous gene syndrome and Sex-limited genes in his study of Breakpoint. As part of the same scientific family, he usually focuses on Chromosomal translocation, concentrating on Karyotype and intersecting with DNA sequencing, Miscarriage, Relative risk, Fluorescence in situ hybridization and Recurrent miscarriage. His studies examine the connections between Chromosome and genetics, as well as such issues in Computational biology, with regards to Molecular diagnostics, Comparative Genome Hybridization and Comparative genomic hybridization.
Sau Wai Cheung mainly investigates Genetics, Gene, Exome sequencing, Human genetics and NIPBL. His research combines Family history and Genetics. In the subject of general Gene, his work in Polymerase chain reaction, Cytogenetics, 1000 Genomes Project and Genome is often linked to Identification, thereby combining diverse domains of study.
His Exome sequencing study incorporates themes from Genetic Carrier Screening, Penetrance, Autism and Proband. Sau Wai Cheung has researched Human genetics in several fields, including Cornelia de Lange Syndrome, Genetic heterogeneity, Locus heterogeneity, Exome and Allele.
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Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders
Ian M. Campbell;Bo Yuan;Caroline Robberecht;Rolph P. Pfundt.
American Journal of Human Genetics (2014)
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization.
Trilochan Sahoo;Sau Wai Cheung;Patricia Ward;Sandra Darilek.
Genetics in Medicine (2006)
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
Claudia M.B. Carvalho;Feng Zhang;Pengfei Liu;Ankita Patel.
Human Molecular Genetics (2009)
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes
Marwan Shinawi;Christian P Schaaf;Samarth S Bhatt;Zhilian Xia.
Nature Genetics (2009)
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture
Lisenka E.L.M. Vissers;Samarth S. Bhatt;Irene M. Janssen;Zhilian Xia.
Human Molecular Genetics (2009)
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
David A. Koolen;Jamie M. Kramer;Kornelia Neveling;Willy M. Nillesen.
Nature Genetics (2012)
Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.
Zhishuo Ou;Jonathan S Berg;Hagith Yonath;Victoria B Enciso.
Genetics in Medicine (2008)
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis
Xin Yan Lu;Mai T. Phung;Chad A. Shaw;Kim Pham.
Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRα gene in the X chromosome pseudoautosomal region 1
Margarita Martinez-Moczygemba;Margarita Martinez-Moczygemba;Minh L. Doan;Okan Elidemir;Leland L. Fan.
Journal of Experimental Medicine (2008)
Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center
T. K. Lau;S. W. Cheung;P. S. S. Lo;A. N. Pursley.
Ultrasound in Obstetrics & Gynecology (2014)
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