Katri Pylkas

Center For Life Course Health Research
Oulu, Finland

Last Updated: 09/26/2026

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Found 130 publications

XXYLT1 and Mendelian Retinal Dystrophy.

XXYLT1 and Mendelian Retinal Dystrophy.

Journal: JAMA ophthalmology

Published: July 30, 2026

Associations of selected atypical non-neuroendocrine cancers with multiple endocrine neoplasia type 1.

Associations of selected atypical non-neuroendocrine cancers with multiple endocrine neoplasia type 1.

Journal: Journal of the Endocrine Society

Published: March 09, 2026

Optical Genome Mapping Reveals Frequent Cryptic Structural Aberrations in Normal Karyotype Acute Myeloid Leukemia.

Optical Genome Mapping Reveals Frequent Cryptic Structural Aberrations in Normal Karyotype Acute Myeloid Leukemia.

Journal: International journal of cancer

Published: December 17, 2025

Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy.

Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy.

Journal: Molecular cytogenetics

Published: November 05, 2025

GenoGraph: An Interpretable Graph Contrastive Learning Approach for Identifying Breast Cancer Risk Variants.

GenoGraph: An Interpretable Graph Contrastive Learning Approach for Identifying Breast Cancer Risk Variants.

Journal: IEEE transactions on computational biology and bioinformatics

Published: October 02, 2025

Author Correction: Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.

Author Correction: Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.

Journal: Nature communications

Published: September 09, 2025

Threshold-Based Overlap of Breast Cancer High-Risk Classification Using Family History, Polygenic Risk Scores, and Traditional Risk Models in 180,398 Women.

Threshold-Based Overlap of Breast Cancer High-Risk Classification Using Family History, Polygenic Risk Scores, and Traditional Risk Models in 180,398 Women.

Journal: Cancers

Published: September 09, 2025

Genes associated with immune response are upregulated in clinically healthy skin of patients with gliptin-associated bullous pemphigoid.

Genes associated with immune response are upregulated in clinically healthy skin of patients with gliptin-associated bullous pemphigoid.

Journal: The Journal of investigative dermatology

Published: September 04, 2025

Overlap of high-risk individuals across family history, genetic & non-genetic breast cancer risk models: Analysis of 180,398 women from European & Asian ancestries.

Overlap of high-risk individuals across family history, genetic & non-genetic breast cancer risk models: Analysis of 180,398 women from European & Asian ancestries.

Journal: medRxiv : the preprint server for health sciences

Published: March 17, 2025

PALB2 mutations increase oncogenic properties of breast epithelial cells by enhancing JAM3 and PARVB expression.

PALB2 mutations increase oncogenic properties of breast epithelial cells by enhancing JAM3 and PARVB expression.

Journal: Biochemical and biophysical research communications

Published: February 09, 2025

Population-based study of recurrent DNA damage response gene variants in breast cancer cases.

Population-based study of recurrent DNA damage response gene variants in breast cancer cases.

Journal: Breast cancer research and treatment

Published: December 20, 2024

Structural Variant Analysis of Complex Karyotype Myelodysplastic Neoplasia Through Optical Genome Mapping.

Structural Variant Analysis of Complex Karyotype Myelodysplastic Neoplasia Through Optical Genome Mapping.

Journal: Genes, chromosomes & cancer

Published: September 24, 2024

Showing 1-12 of 130

Last Updated: 09/26/2026