What is he best known for?
The fields of study he is best known for:
His primary scientific interests are in Genetics, Copy-number variation, Autism spectrum disorder, Gene and Human genome.
His research on Genetics often connects related areas such as Autism.
His Copy-number variation research is multidisciplinary, relying on both Candidate gene, Comparative genomic hybridization, Genetic variation, DNA sequencing and Genetic architecture.
The various areas that Stephen W. Scherer examines in his Autism spectrum disorder study include Mutation, Proband, Whole genome sequencing and Locus.
His work in Gene covers topics such as Molecular biology which are related to areas like Gene isoform.
The study incorporates disciplines such as Copy number analysis, Comparative genomics, Genomics and Segmental duplication in addition to Human genome.
His most cited work include:
- Global variation in copy number in the human genome (3626 citations)
- Detection of large-scale variation in the human genome. (2589 citations)
- Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies (1777 citations)
What are the main themes of his work throughout his whole career to date?
Stephen W. Scherer spends much of his time researching Genetics, Copy-number variation, Gene, Autism spectrum disorder and Autism.
His is doing research in Genome, Locus, Phenotype, Genome-wide association study and Human genome, both of which are found in Genetics.
Whole genome sequencing is closely connected to Computational biology in his research, which is encompassed under the umbrella topic of Genome.
His Copy-number variation study combines topics from a wide range of disciplines, such as Proband, Bioinformatics, Gene duplication, Single-nucleotide polymorphism and Human genetics.
His research investigates the link between Gene and topics such as Molecular biology that cross with problems in Chromosome 7 and Fluorescence in situ hybridization.
His work deals with themes such as Penetrance and Intellectual disability, which intersect with Autism spectrum disorder.
He most often published in these fields:
- Genetics (89.44%)
- Copy-number variation (42.57%)
- Gene (35.75%)
What were the highlights of his more recent work (between 2018-2021)?
- Genetics (89.44%)
- Autism spectrum disorder (28.15%)
- Copy-number variation (42.57%)
In recent papers he was focusing on the following fields of study:
Stephen W. Scherer mostly deals with Genetics, Autism spectrum disorder, Copy-number variation, Gene and Autism.
His Phenotype, Missense mutation, Genome-wide association study, Human genetics and Exome sequencing study are his primary interests in Genetics.
His studies in Phenotype integrate themes in fields like Mutation, Gene duplication and Whole genome sequencing.
His Autism spectrum disorder study also includes fields such as
- Genetic testing together with Clinical psychology,
- Proband which intersects with area such as Haploinsufficiency.
His Copy-number variation research integrates issues from Locus, Etiology, Germline and Clinical significance.
Stephen W. Scherer focuses mostly in the field of Gene, narrowing it down to topics relating to Computational biology and, in certain cases, Induced pluripotent stem cell.
Between 2018 and 2021, his most popular works were:
- Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (373 citations)
- Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa (208 citations)
- Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. (72 citations)
In his most recent research, the most cited papers focused on:
Stephen W. Scherer mainly focuses on Autism spectrum disorder, Genetics, Gene, Exome sequencing and Mutation.
His Autism spectrum disorder research is multidisciplinary, incorporating perspectives in Attention deficit hyperactivity disorder, Intellectual disability, MEDLINE and Copy-number variation.
His Copy-number variation study combines topics in areas such as Microarray, Regulation of gene expression and False discovery rate.
His Genetics study frequently links to related topics such as Inborn error of metabolism.
His study explores the link between Exome sequencing and topics such as Spectrum disorder that cross with problems in Allele frequency and Genome-wide association study.
His work in Mutation addresses subjects such as Whole genome sequencing, which are connected to disciplines such as Computational biology, Cancer, Cancer research, Methylation and Whole blood.
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