Jan P. Dumanski

Uppsala, C, Sweden

Last Updated: 09/26/2026

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Found 44 publications

From clinical suspicion to molecular detection of low-level mosaicism in NF2-related schwannomatosis via ultra-sensitive duplex sequencing.

From clinical suspicion to molecular detection of low-level mosaicism in NF2-related schwannomatosis via ultra-sensitive duplex sequencing.

Journal: Molecular medicine (Cambridge, Mass.)

Published: May 29, 2026

Loss of Y chromosome in Alzheimer's patients co-occurs with somatic mutations beyond CHIP drivers.

Loss of Y chromosome in Alzheimer's patients co-occurs with somatic mutations beyond CHIP drivers.

Journal: Life science alliance

Published: October 13, 2025

Beyond tumors: uninvolved breast tissue of breast cancer patients with adverse prognoses is enriched for pathogenic PIK3CA and TP53 post-zygotic variants.

Beyond tumors: uninvolved breast tissue of breast cancer patients with adverse prognoses is enriched for pathogenic PIK3CA and TP53 post-zygotic variants.

Journal: BMC cancer

Published: August 11, 2025

A denaturation-free protocol for in situ visualization of short nuclear DNA sequences using padlock probes with rolling-circle amplification.

A denaturation-free protocol for in situ visualization of short nuclear DNA sequences using padlock probes with rolling-circle amplification.

Journal: PloS one

Published: July 28, 2025

Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.

Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.

Journal: Frontiers in medicine

Published: June 13, 2025

The effect of cold ischemia time on hypoxia, EMT, and apoptosis pathways in normal colon mucosa.

The effect of cold ischemia time on hypoxia, EMT, and apoptosis pathways in normal colon mucosa.

Journal: PloS one

Published: March 06, 2025

The effects of loss of Y chromosome on male health.

The effects of loss of Y chromosome on male health.

Journal: Nature reviews. Genetics

Published: November 06, 2024

DNA methylation patterns contribute to changes of cellular differentiation pathways in leukocytes with LOY from patients with Alzheimer´s disease.

DNA methylation patterns contribute to changes of cellular differentiation pathways in leukocytes with LOY from patients with Alzheimer´s disease.

Journal: Cellular and molecular life sciences : CMLS

Published: June 27, 2024

Mass Spectrometry Proteomics Characterization of Plasma Biomarkers for Colorectal Cancer Associated With Inflammation.

Mass Spectrometry Proteomics Characterization of Plasma Biomarkers for Colorectal Cancer Associated With Inflammation.

Journal: Biomarker insights

Published: January 16, 2024

Tumor Predisposing Post-Zygotic Chromosomal Alterations in Bladder Cancer-Insights from Histologically Normal Urothelium.

Tumor Predisposing Post-Zygotic Chromosomal Alterations in Bladder Cancer-Insights from Histologically Normal Urothelium.

Journal: Cancers

Published: November 30, 2023

Prelude to malignancy: A gene expression signature in normal mammary gland from breast cancer patients suggests pre-tumorous alterations and is associated with adverse outcomes.

Prelude to malignancy: A gene expression signature in normal mammary gland from breast cancer patients suggests pre-tumorous alterations and is associated with adverse outcomes.

Journal: International journal of cancer

Published: October 19, 2023

Loss of Y in regulatory T lymphocytes in the tumor micro-environment of primary colorectal cancers and liver metastases.

Loss of Y in regulatory T lymphocytes in the tumor micro-environment of primary colorectal cancers and liver metastases.

Journal: Scientific reports

Published: August 24, 2023

Showing 1-12 of 44

Last Updated: 09/26/2026