What is he best known for?
The fields of study he is best known for:
James S. Sutcliffe spends much of his time researching Genetics, Copy-number variation, Autism, Heritability of autism and Epigenetics of autism.
His Genome-wide association study, Gene, Fragile X syndrome, Allele and Exome study are his primary interests in Genetics.
His Fragile X syndrome research includes themes of Sherman paradox, Fragile X-associated tremor/ataxia syndrome, FMR1 and Molecular biology.
His work carried out in the field of Copy-number variation brings together such families of science as Nonsense mutation, Schizophrenia, Genetic variation and Genetic architecture.
Particularly relevant to Autism spectrum disorder is his body of work in Autism.
His Heritability of autism study incorporates themes from Germline mutation and Genetic linkage.
His most cited work include:
- Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome (2825 citations)
- Strong Association of De Novo Copy Number Mutations with Autism (2329 citations)
- Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. (1762 citations)
What are the main themes of his work throughout his whole career to date?
Genetics, Autism, Gene, Autism spectrum disorder and Copy-number variation are his primary areas of study.
His study in Allele, Genome-wide association study, Genetic association, Candidate gene and Single-nucleotide polymorphism is done as part of Genetics.
The various areas that James S. Sutcliffe examines in his Autism study include Exome sequencing, Genetic variation and Haplotype.
His Copy-number variation study incorporates themes from Gene duplication, Intellectual disability and Medical genetics.
In his work, Fragile X syndrome is strongly intertwined with Molecular biology, which is a subfield of Genomic imprinting.
His research integrates issues of Neurodevelopmental disorder, Genetic heterogeneity and Epigenetics of autism in his study of Heritability of autism.
He most often published in these fields:
- Genetics (73.46%)
- Autism (48.15%)
- Gene (26.54%)
What were the highlights of his more recent work (between 2013-2021)?
- Autism (48.15%)
- Autism spectrum disorder (20.37%)
- Genetics (73.46%)
In recent papers he was focusing on the following fields of study:
The scientist’s investigation covers issues in Autism, Autism spectrum disorder, Genetics, Gene and Exome sequencing.
His Autism research incorporates elements of Intellectual disability, Clinical psychology, Single-nucleotide polymorphism, Genetic variation and Comorbidity.
His Autism spectrum disorder study combines topics in areas such as Genotyping, Tourette syndrome, Psychiatric genetics and Cohort.
His Genetics study focuses mostly on Copy-number variation, Exome, Genome-wide association study, Genetic heterogeneity and Genomics.
In his study, Functional genomics is strongly linked to Disease, which falls under the umbrella field of Gene.
His Exome sequencing study also includes
- Regulation of gene expression together with Phenotype, Chromatin, Histone, Transcriptional regulation and SYNGAP1,
- Spectrum disorder, which have a strong connection to Allele frequency.
Between 2013 and 2021, his most popular works were:
- Synaptic, transcriptional and chromatin genes disrupted in autism (1544 citations)
- Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. (779 citations)
- A framework for the interpretation of de novo mutation in human disease (700 citations)
In his most recent research, the most cited papers focused on:
His scientific interests lie mostly in Genetics, Genome-wide association study, Autism spectrum disorder, Autism and Copy-number variation.
He integrates many fields in his works, including Genetics and Casein kinase 2.
His study in Genome-wide association study is interdisciplinary in nature, drawing from both Schizophrenia, Genetic association, Tourette syndrome and Genetic architecture.
His research in Autism spectrum disorder intersects with topics in Psychiatric genetics, Cohort and Medical education.
As a part of the same scientific study, James S. Sutcliffe usually deals with the Autism, concentrating on Genetic heterogeneity and frequently concerns with Heritability, Genetic variation, Heritability of autism and Allele.
The Copy-number variation study combines topics in areas such as Fragile X syndrome, Bioinformatics, Intellectual disability, Genotyping and CHD2.
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