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)
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.
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.
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
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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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)
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)
The complete genome of an individual by massively parallel DNA sequencing
David A. Wheeler;Maithreyan Srinivasan;Michael Egholm;Yufeng Shen.
Nature (2008)
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)
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)
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
James R. Lupski;Roberto Montes de Oca-Luna;Susan Slaugenhaupt;Liu Pentao.
Cell (1991)
Structural Variation in the Human Genome and its Role in Disease
Paweł Stankiewicz;James R. Lupski.
Annual Review of Medicine (2010)
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)
Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits
James R Lupski.
Trends in Genetics (1998)
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)
Genome Medicine
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