D-Index & Metrics Best Publications

D-Index & Metrics

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Genetics and Molecular Biology D-index 57 Citations 8,353 159 World Ranking 2783 National Ranking 1352

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Genetics

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.

His most cited work include:

  • Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders (158 citations)
  • Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. (157 citations)
  • A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes (151 citations)

What are the main themes of his work throughout his whole career to date?

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.

He most often published in these fields:

  • Genetics (84.24%)
  • Comparative genomic hybridization (30.54%)
  • Gene duplication (22.17%)

What were the highlights of his more recent work (between 2017-2021)?

  • Genetics (84.24%)
  • Copy-number variation (23.65%)
  • Breakpoint (16.26%)

In recent papers he was focusing on the following fields of study:

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.

Between 2017 and 2021, his most popular works were:

  • Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. (56 citations)
  • BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes. (37 citations)
  • Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics. (36 citations)

In his most recent research, the most cited papers focused on:

  • Gene
  • Mutation
  • Genetics

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.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

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)

209 Citations

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization.

Trilochan Sahoo;Sau Wai Cheung;Patricia Ward;Sandra Darilek.
Genetics in Medicine (2006)

196 Citations

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)

195 Citations

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)

193 Citations

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)

186 Citations

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)

183 Citations

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)

180 Citations

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.
Pediatrics (2008)

169 Citations

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)

167 Citations

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)

167 Citations

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