Karl Hackmann

Dresden, SN, Germany

Last Updated: 09/26/2026

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Found 67 publications

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.

Journal: Journal of human genetics

Published: April 30, 2026

17.6% of patients in a German cohort with exocrine pancreatic cancer were diagnosed with a genetic tumor syndrome-a case for universal genetic testing?

17.6% of patients in a German cohort with exocrine pancreatic cancer were diagnosed with a genetic tumor syndrome-a case for universal genetic testing?

Journal: ESMO gastrointestinal oncology

Published: February 06, 2026

Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature.

Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature.

Journal: Clinical epigenetics

Published: October 18, 2024

Structural basis for OAS2 regulation and its antiviral function.

Structural basis for OAS2 regulation and its antiviral function.

Journal: Molecular cell

Published: October 11, 2024

Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC.

Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC.

Journal: NPJ genomic medicine

Published: September 17, 2024

Childhood, adolescent, and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriers.

Childhood, adolescent, and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriers.

Journal: Journal of the National Cancer Institute

Published: August 05, 2024

Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci.

Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci.

Journal: European journal of human genetics : EJHG

Published: December 21, 2023

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.

Journal: The Lancet. Oncology

Published: July 17, 2022

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Journal: Cancers

Published: April 12, 2022

Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers.

Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers.

Journal: Annals of oncology : official journal of the European Society for Medical Oncology

Published: March 06, 2022

Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.

Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.

Journal: Human genetics

Published: February 11, 2022

Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

Journal: PLoS genetics

Published: September 21, 2021

Showing 1-12 of 67

Last Updated: 09/26/2026