What is he best known for?
The fields of study he is best known for:
His primary areas of investigation include Genetics, Pathology, Single-nucleotide polymorphism, Locus and Allele.
Human genome, SNP genotyping, Genotyping, Genome-wide association study and Haplotype are among the areas of Genetics where the researcher is concentrating his efforts.
His Pathology research integrates issues from CNTNAP2, Central nervous system disease, Gene expression profiling, Old Order Amish and Epilepsy.
The Single-nucleotide polymorphism study combines topics in areas such as Alzheimer's disease, Missense mutation, Ventricular tachycardia and Tachycardia.
His Locus research incorporates themes from Population study, Genetic marker, X chromosome, Gene mapping and Prostate cancer.
Dietrich A. Stephan focuses mostly in the field of Allele, narrowing it down to matters related to Apolipoprotein E and, in some cases, Allele frequency, PICALM and Genetic association.
His most cited work include:
- Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays. (917 citations)
- A Translational Profiling Approach for the Molecular Characterization of CNS Cell Types (835 citations)
- Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2) (672 citations)
What are the main themes of his work throughout his whole career to date?
Dietrich A. Stephan mainly focuses on Genetics, Single-nucleotide polymorphism, Locus, Gene and Computational biology.
His study in Genetics concentrates on Allele, Gene mapping, Genetic linkage, Haplotype and Genetic association.
As part of one scientific family, Dietrich A. Stephan deals mainly with the area of Single-nucleotide polymorphism, narrowing it down to issues related to the Genotyping, and often Human genome.
The various areas that he examines in his Locus study include Consanguinity, Chromosome and Allele frequency.
Within one scientific family, Dietrich A. Stephan focuses on topics pertaining to Disease under Computational biology, and may sometimes address concerns connected to Bioinformatics and Genetic marker.
His Gene expression study which covers Pathology that intersects with Cancer research.
He most often published in these fields:
- Genetics (56.57%)
- Single-nucleotide polymorphism (24.57%)
- Locus (23.43%)
What were the highlights of his more recent work (between 2009-2018)?
- Genetics (56.57%)
- Single-nucleotide polymorphism (24.57%)
- Genome-wide association study (6.29%)
In recent papers he was focusing on the following fields of study:
His main research concerns Genetics, Single-nucleotide polymorphism, Genome-wide association study, Computational biology and Genetic association.
Missense mutation is closely connected to Hearing loss in his research, which is encompassed under the umbrella topic of Genetics.
His study in Single-nucleotide polymorphism is interdisciplinary in nature, drawing from both Disease, Haplotype and Bioinformatics.
Dietrich A. Stephan works mostly in the field of Genome-wide association study, limiting it down to topics relating to SNP and, in certain cases, Population study, Population stratification, Allele frequency, Association mapping and Heritability.
His Computational biology research is multidisciplinary, incorporating perspectives in Signaling proteins, ENCODE and Functional genomics.
The concepts of his Genetic association study are interwoven with issues in Temporal cortex, Linkage disequilibrium, Posterior cingulate, Hippocampal formation and Neuroimaging.
Between 2009 and 2018, his most popular works were:
- A commonly carried allele of the obesity-related FTO gene is associated with reduced brain volume in the healthy elderly (195 citations)
- Genome-wide analysis reveals novel genes influencing temporal lobe structure with relevance to neurodegeneration in Alzheimer's disease. (120 citations)
- Autism and increased paternal age related changes in global levels of gene expression regulation. (86 citations)
In his most recent research, the most cited papers focused on:
Dietrich A. Stephan spends much of his time researching Genetics, Genome-wide association study, SNP, Bioinformatics and Gene expression.
His Genetics study integrates concerns from other disciplines, such as Amyotrophic lateral sclerosis and Pathogenesis.
His Genome-wide association study study is concerned with the field of Single-nucleotide polymorphism as a whole.
Dietrich A. Stephan has included themes like Population study, Population stratification, Allele frequency, Association mapping and Hearing loss in his SNP study.
His Bioinformatics research focuses on Heritability of autism and how it connects with Gene expression profiling.
His research in Gene expression focuses on subjects like Regulation of gene expression, which are connected to Signal transduction, Cell biology and Extracellular matrix.
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