What is he best known for?
The fields of study he is best known for:
His primary areas of study are Genetics, Gene duplication, Gene, Genome and Mutation.
Human genome, Phenotype, Gene rearrangement, Copy-number variation and Allele are the subjects of his Genetics studies.
As a part of the same scientific study, James R. Lupski usually deals with the Gene rearrangement, concentrating on Non-allelic homologous recombination and frequently concerns with Low copy repeats.
His research in Gene duplication intersects with topics in Point mutation, Chromosome, Chromosome 17 and Autism, Developmental disorder.
His Genome research integrates issues from Genetic variation, Homologous recombination and Breakpoint.
The concepts of his Mutation study are interwoven with issues in Peripheral neuropathy, TDP1, Mutant and Genotype.
His most cited work include:
- The complete genome of an individual by massively parallel DNA sequencing (1584 citations)
- The complete genome of an individual by massively parallel DNA sequencing (1584 citations)
- Genomic fingerprinting of bacteria using repetitive sequence-based polymerase chain reaction (1385 citations)
What are the main themes of his work throughout his whole career to date?
James R. Lupski focuses on Genetics, Gene duplication, Gene, Exome sequencing and Phenotype.
Genetics is a component of his Copy-number variation, Allele, Locus, Mutation and Breakpoint studies.
James R. Lupski interconnects Chromosome, Genome, Human genome, Comparative genomic hybridization and Non-allelic homologous recombination in the investigation of issues within Gene duplication.
His work carried out in the field of Genome brings together such families of science as Gene rearrangement and Human genetics.
His studies in Gene dosage and Point mutation are all subfields of Gene research.
The Exome sequencing study combines topics in areas such as Missense mutation, Disease, Mendelian inheritance and Candidate gene.
He most often published in these fields:
- Genetics (94.51%)
- Gene duplication (29.87%)
- Gene (24.37%)
What were the highlights of his more recent work (between 2016-2021)?
- Genetics (94.51%)
- Exome sequencing (18.11%)
- Phenotype (18.02%)
In recent papers he was focusing on the following fields of study:
His primary areas of investigation include Genetics, Exome sequencing, Phenotype, Missense mutation and Gene.
His work in Allele, Copy-number variation, Neurodevelopmental disorder, Locus and Intellectual disability are all subfields of Genetics research.
His research investigates the connection with Locus and areas like Breakpoint which intersect with concerns in Comparative genomic hybridization, Gene duplication and Genome instability.
His Exome sequencing research also works with subjects such as
- Candidate gene together with Mendelian inheritance,
- Disease which intersects with area such as Genotype.
His Phenotype research incorporates elements of DDX3X, Zebrafish, Mitochondrial DNA and Genomics.
His Exome course of study focuses on Human genetics and Human genome, Computational biology and Genome.
Between 2016 and 2021, his most popular works were:
- Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation (317 citations)
- Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation (317 citations)
- Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management (165 citations)
In his most recent research, the most cited papers focused on:
His primary scientific interests are in Genetics, Phenotype, Exome sequencing, Gene and Exome.
His Genetics study is mostly concerned with Genetic heterogeneity, Candidate gene, Neurodevelopmental disorder, Copy-number variation and Missense mutation.
His biological study spans a wide range of topics, including Compound heterozygosity, Single-nucleotide polymorphism, Runs of Homozygosity, Gene duplication and Uniparental disomy.
His Phenotype research is multidisciplinary, relying on both Disease, Zebrafish, Microcephaly, Allele and Genotype.
His Exome sequencing study combines topics from a wide range of disciplines, such as Cancer research, Germline, Transforming growth factor beta, Computational biology and Bone morphogenetic protein.
James R. Lupski focuses mostly in the field of Exome, narrowing it down to topics relating to Human genetics and, in certain cases, Human genome, Mendelian inheritance, Genomics and Inheritance Patterns.
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