Jan Piotr Dumanski - Genetic Mutations

Author Information

Jan Piotr Dumanski is a distinguished researcher affiliated with the Departments of Immunology, Genetics, and Pathology, and Science for Life Laboratory at Uppsala University in Uppsala, Sweden. His research primarily focuses on genetic variations and their implications in cancer predisposition, as well as other genetic and immunological disorders.

Research Contributions

Jan Piotr Dumanski has made significant contributions to the field of genetics and cancer research. His work includes the study of post-zygotic genetic variations involved in cancer predisposition, the impact of nucleus size on spatial transcriptomics, and the relationship between the loss of the Y chromosome and clonal hematopoiesis. Additionally, he has explored the dysregulation of autosomal gene expression in immune cells lacking the Y chromosome and the prevalence of somatic pathogenic variants in normal mammary gland tissue among sporadic breast cancer patients. His research also covers the diagnostic implications of mosaicism for tetrasomy 18p in monozygotic twins and the abundance of cell surface immunoproteins in leukocytes with chromosome Y loss.

Aliases

Jan Piotr Dumanski is also known by several aliases, including:

J P Dumanski J. Dumanski Jan Dumanski Jan P. Dumanski J. P. Dumanski J Dumanski J. Dumanskí Jan Dumański

Publication and Citation Metrics

Metric	Value
Total Citations	12,840
h-index	51
Number of Papers	216

Publications:

Comprehensive cancer-oriented biobanking resource of human samples for studies of post-zygotic genetic variation involved in cancer predisposition

DOI: 10.1371/journal.pone.0266111

Year: 2022

Size matters - the impact of nucleus size on results from spatial transcriptomics

DOI: 10.1101/2022.03.31.486657

Year: 2022

Comprehensive cancer-oriented biobanking resource of human samples for studies of post-zygotic genetic variation involved in cancer predisposition

DOI: 10.1101/2021.09.03.458865

Year: 2021

Loss of Y and clonal hematopoiesis in blood—two sides of the same coin?

DOI: 10.1038/s41375-021-01456-2

Year: 2021

Immune cells lacking Y chromosome show dysregulation of autosomal gene expression

DOI: 10.1007/s00018-021-03822-w

Year: 2021

High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.

DOI: 10.1101/2021.09.27.21263863

Year: 2021

Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99

DOI: 10.1038/s41598-021-94588-5

Year: 2021

Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins—Diagnostic implications

DOI: 10.1002/mgg3.1526

Year: 2020

The level of myeloid derived-suppressor cells in peripheral blood of patients with prostate cancerafter various types of therapy.

DOI: 10.5114/pjp.2020.95415

Year: 2020

Loss of Y in leukocytes, dysregulation of autosomal immune genes and disease risks

DOI: 10.1101/673459

Year: 2019

Why Study CNVs?

How are CNVs Detected?

How is Cystic Fibrosis Inherited?

What are the advantages of using ZFNs?

What Is the Future of Genetic Mutation Research?

How is Cancer Genomics Studied?

What Is the Impact of Genetic Counseling?

Can Genetic Disorders Affect Child Development?

Which Genes Are Commonly Involved?

How Does the Body Repair UV-Induced DNA Damage?

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