D-Index & Metrics Best Publications
Research.com 2022 Best Scientist Award Badge

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 146 Citations 92,104 759 World Ranking 72 National Ranking 48
Best Scientists D-index 159 Citations 106,870 888 World Ranking 874 National Ranking 558

Research.com Recognitions

Awards & Achievements

2022 - Research.com Best Scientist Award

2013 - Fellow of the American Academy of Arts and Sciences

2002 - Member of the National Academy of Medicine (NAM)

2002 - Curt Stern Award, American Society of Human Genetics

1998 - E. Mead Johnson Award, Society for Pediatric Research

1996 - Fellow of the American Association for the Advancement of Science (AAAS)

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Genetics

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:

  • Gene
  • Mutation
  • Genetics

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.

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

Distribution of repetitive DNA sequences in eubacteria and application to fingerprinting of bacterial genomes.

James Versalovic;Thearith Koeuth;James R. Lupski.
Nucleic Acids Research (1991)

4200 Citations

Genomic fingerprinting of bacteria using repetitive sequence-based polymerase chain reaction

James Versalovic;M. Schneider;F. J. De Bruijn;J. R. Lupski.
Methods in molecular and cellular biology (1994)

2186 Citations

The complete genome of an individual by massively parallel DNA sequencing

David A. Wheeler;Maithreyan Srinivasan;Michael Egholm;Yufeng Shen.
Nature (2008)

2117 Citations

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Yaping Yang;Donna M. Muzny;Jeffrey G. Reid;Matthew N. Bainbridge.
The New England Journal of Medicine (2013)

1608 Citations

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

Rando Allikmets;Nanda Singh;Hui Sun;Noah F. Shroyer.
Nature Genetics (1997)

1427 Citations

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

James R. Lupski;Roberto Montes de Oca-Luna;Susan Slaugenhaupt;Liu Pentao.
Cell (1991)

1382 Citations

Structural Variation in the Human Genome and its Role in Disease

Paweł Stankiewicz;James R. Lupski.
Annual Review of Medicine (2010)

1216 Citations

Mechanisms of change in gene copy number

P. J. Hastings;James R. Lupski;James R. Lupski;Susan M. Rosenberg;Grzegorz Ira.
Nature Reviews Genetics (2009)

1178 Citations

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

James R Lupski.
Trends in Genetics (1998)

1070 Citations

Copy number variation in human health, disease, and evolution.

Feng Zhang;Wenli Gu;Matthew E. Hurles;James R. Lupski.
Annual Review of Genomics and Human Genetics (2009)

1069 Citations

Editorial Boards

Genome Medicine
(Impact Factor: 15.266)

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