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Jan P. Dumanski

Jan P. Dumanski

D-Index & Metrics

Genetics

D-Index
62
Citations
16981
World Ranking
2956
National Ranking
38

Overview

Jan P. Dumanski is affiliated with Uppsala University in Sweden and has contributed extensively to research in the fields of biochemistry, genetics, molecular biology, medicine, and immunology and microbiology. Their work intersects with several subfields including molecular biology, immunology, oncology, cancer research, and pathology and forensic medicine.

Their recent published papers cover various aspects of immune function and genetic regulation, including:

  • Immune cells lacking Y chromosome show dysregulation of autosomal gene expression (2021), published in Cellular and Molecular Life Sciences
  • Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99 (2021), published in Scientific Reports
  • Loss of Y and clonal hematopoiesis in blood-two sides of the same coin? (2021), published in Leukemia
  • High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing (2022), published in npj Breast Cancer
  • Loss of Y in leukocytes as a risk factor for critical COVID-19 in men (2022), published in Genome Medicine

The research topics they focus on are primarily related to immune cell function and interaction, single-cell and spatial transcriptomics, T-cell and B-cell immunology, epigenetics and DNA methylation, genetic factors in colorectal cancer, cancer genomics and diagnostics, and cancer-related molecular pathways.

Frequent co-authors in their publications include:

  • Hanna Davies
  • Natalia Filipowicz
  • Arkadiusz Piotrowski
  • Edyta Rychlicka-Buniowska
  • Bożena Bruhn-Olszewska

Dumanski's work has appeared frequently in venues such as bioRxiv (Cold Spring Harbor Laboratory), Scientific Reports, Cellular and Molecular Life Sciences, PLoS ONE, and BMC Genomics. Among these, bioRxiv hosts the largest volume of their publications.

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

  • The DNA sequence of human chromosome 22

    I. Dunham;N. Shimizu;B. A. Roe;S. Chissoe

  • 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

  • Clonal Genomic Alterations in Glioma Malignancy Stages

    James Cd;Carlbom E;Dumanski Jp;Hansen M

  • Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas

    M H Ruttledge;J Sarrazin;S Rangaratnam;C M Phelan

  • 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

  • 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

  • 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

  • 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

  • Molecular Recognition by LARGE Is Essential for Expression of Functional Dystroglycan

    Motoi Kanagawa;Fumiaki Saito;Stefan Kunz;Takako Yoshida-Moriguchi

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

    Rita Barresi;Daniel E Michele;Motoi Kanagawa;Hollie A Harper

  • Deletion mapping of a locus on human chromosome 22 involved in the oncogenesis of meningioma.

    J P Dumanski;E Carlbom;V P Collins;M Nordenskjöld

  • Mosaicism in health and disease-clones picking up speed

    Lars A. Forsberg;Lars A. Forsberg;David Gisselsson;Jan P. Dumanski;Jan P. Dumanski

  • Various regions within the alpha-helical domain of the COL1A1 gene are fused to the second exon of the PDGFB gene in dermatofibrosarcomas and giant-cell fibroblastomas

    Kevin P. O'Brien;Eyal Seroussi;Paola Dal Cin;Raf Sciot

  • Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome

    Peter J. Scambler;Alisoun H. Carey;Richard K.H. Wyse;Sherry Roach

  • Genetic predisposition to mosaic Y chromosome loss in blood.

    Deborah J Thompson;Giulio Genovese;Giulio Genovese;Jonatan Halvardson;Jacob C Ulirsch;Jacob C Ulirsch

  • Somatic mosaicism for copy number variation in differentiated human tissues.

    Arkadiusz Piotrowski;Arkadiusz Piotrowski;Carl E.G. Bruder;Robin Andersson;Teresita Diaz de Ståhl

  • Genomic microarrays in the spotlight.

    Kiran K. Mantripragada;Patrick G. Buckley;Teresita Diaz De Stahl;Jan P. Dumanski

  • Age-Related Somatic Structural Changes in the Nuclear Genome of Human Blood Cells

    Lars A. Forsberg;Chiara Rasi;Hamid R. Razzaghian;Geeta Pakalapati

  • Molecular Genetic Analysis of Chromosome 22 in 81 Cases of Meningioma

    Dumanski Jp;Rouleau Ga;Nordenskjöld M;Collins Vp

Frequent Co-Authors

Magnus Nordenskjöld
Magnus Nordenskjöld Karolinska Institute
Martin Ingelsson
Martin Ingelsson Uppsala University
Bruce A. Roe
Bruce A. Roe University of Oklahoma
Vilmantas Giedraitis
Vilmantas Giedraitis Uppsala University
Elisabeth Blennow
Elisabeth Blennow Karolinska Institute
Lars Lannfelt
Lars Lannfelt Uppsala University
V. Peter Collins
V. Peter Collins University of Cambridge
Ian Dunham
Ian Dunham European Bioinformatics Institute
Cordelia Langford
Cordelia Langford Wellcome Sanger Institute
Guy A. Rouleau
Guy A. Rouleau Montreal Neurological Institute and Hospital

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