D-Index & Metrics Best Publications

D-Index & Metrics 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.

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 D-index 57 Citations 14,240 175 World Ranking 2593 National Ranking 34

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Genetics
  • Mutation

Jan P. Dumanski mainly investigates Genetics, Molecular biology, Genome, Genetic variation and Phenotype. Chromosome 22, Medical genetics, Genomics, Locus and Gene are subfields of Genetics in which his conducts study. He has included themes like Dermatofibrosarcoma protuberans, PDGFB Gene, Laminin, PDGFB and Chromosome in his Molecular biology study.

His work on Human genome as part of general Genome research is often related to Human blood, thus linking different fields of science. His studies deal with areas such as Segmental duplication, Germline, Genetic heterogeneity, Single-nucleotide polymorphism and Human genetics as well as Genetic variation. His Phenotype research incorporates elements of Genetic variability, Genotype and Concordance.

His most cited work include:

  • The DNA sequence of human chromosome 22 (1150 citations)
  • Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2 (1112 citations)
  • Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles (500 citations)

What are the main themes of his work throughout his whole career to date?

The scientist’s investigation covers issues in Genetics, Gene, Chromosome 22, Chromosome and Molecular biology. His works in Locus, Comparative genomic hybridization, Gene mapping, Copy-number variation and Human genome are all subjects of inquiry into Genetics. His research on Gene often connects related topics like Neurofibromatosis type 2.

While the research belongs to areas of Chromosome 22, he spends his time largely on the problem of Chromosome 21, intersecting his research to questions surrounding Chromosome 15. His study in Chromosome is interdisciplinary in nature, drawing from both Cancer, Mutation, Immune system, Genetic marker and Y chromosome. His Cancer research includes themes of Medical genetics, Immunology and Pathology.

He most often published in these fields:

  • Genetics (88.12%)
  • Gene (34.16%)
  • Chromosome 22 (27.23%)

What were the highlights of his more recent work (between 2014-2021)?

  • Genetics (88.12%)
  • Chromosome (31.19%)
  • Y chromosome (12.38%)

In recent papers he was focusing on the following fields of study:

Jan P. Dumanski mainly focuses on Genetics, Chromosome, Y chromosome, Cancer and Medical genetics. His study connects Increased risk and Genetics. His Chromosome research incorporates themes from Odds ratio, Incidence, Peripheral blood and Risk factor.

His Y chromosome study deals with Genetic predisposition intersecting with Biobank, Genome-wide association study and Genetic marker. His research in Cancer intersects with topics in Cancer research and Immunology. His Medical genetics research is multidisciplinary, relying on both Alzheimer's disease, Life expectancy, Genetic variation and Genetic testing.

Between 2014 and 2021, his most popular works were:

  • Mosaicism in health and disease-clones picking up speed (129 citations)
  • Mosaicism in health and disease-clones picking up speed (129 citations)
  • Smoking is associated with mosaic loss of chromosome Y (109 citations)

In his most recent research, the most cited papers focused on:

  • Gene
  • Mutation
  • DNA

His scientific interests lie mostly in Chromosome, Medical genetics, Genetics, Cancer and Immunology. Jan P. Dumanski combines subjects such as Odds ratio, Longitudinal study, Incidence, Epidemiology and Cohort study with his study of Chromosome. His Medical genetics research is multidisciplinary, incorporating perspectives in Genome, Human genome, Genomics, Phenotype and Mutation.

His Genetic variation and Genetic testing investigations are all subjects of Genetics research. His work deals with themes such as Genome-wide association study and Genetic marker, Y chromosome, Gene, Genetic predisposition, which intersect with Cancer. Jan P. Dumanski has included themes like Polymorphism, Case-control study, Life expectancy, Alzheimer's disease and Prospective cohort study in his Immunology study.

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

Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

Guy A. Rouleau;Philippe Merel;Mohini Lutchman;Marc Sanson;Marc Sanson.
Nature (1993)

1602 Citations

The DNA sequence of human chromosome 22

I. Dunham;N. Shimizu;B. A. Roe;S. Chissoe.
Nature (1999)

1467 Citations

Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles

Carl E.G. Bruder;Arkadiusz Piotrowski;Antoinet A.C.J. Gijsbers;Robin Andersson.
American Journal of Human Genetics (2008)

672 Citations

Clonal Genomic Alterations in Glioma Malignancy Stages

James Cd;Carlbom E;Dumanski Jp;Hansen M.
Cancer Research (1988)

672 Citations

Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma

Marie Pierre Simon;Florence Pedeutour;Nicolas Sirvent;Josiane Grosgeorge.
Nature Genetics (1997)

563 Citations

The dermatofibrosarcoma protuberans-associated collagen type Ialpha1/platelet-derived growth factor (PDGF) B-chain fusion gene generates a transforming protein that is processed to functional PDGF-BB.

A Shimizu;K P O'Brien;T Sjöblom;K Pietras.
Cancer Research (1999)

380 Citations

Growth inhibition of dermatofibrosarcoma protuberans tumors by the platelet-derived growth factor receptor antagonist STI571 through induction of apoptosis.

Tobias Sjöblom;Akira Shimizu;Kevin P. O’Brien;Kristian Pietras.
Cancer Research (2001)

328 Citations

LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies

Rita Barresi;Daniel E Michele;Motoi Kanagawa;Hollie A Harper.
Nature Medicine (2004)

297 Citations

Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer

Lars A Forsberg;Chiara Rasi;Niklas Malmqvist;Hanna Davies.
Nature Genetics (2014)

294 Citations

Molecular Recognition by LARGE Is Essential for Expression of Functional Dystroglycan

Motoi Kanagawa;Fumiaki Saito;Stefan Kunz;Takako Yoshida-Moriguchi.
Cell (2004)

292 Citations

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