Stephan H. Drukewitz

Philipp Rosenthal Str. 55
Leipzig, SN 04103, Germany

Last Updated: 09/26/2026

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Found 25 publications

Clinical and genetic diagnostic challenges in presumed hereditary ataxia.

Clinical and genetic diagnostic challenges in presumed hereditary ataxia.

Journal: Journal of neurology
Published: January 28, 2026

PRS-BC313 integration for tailored breast cancer prevention in female patients and their healthy relatives.

PRS-BC313 integration for tailored breast cancer prevention in female patients and their healthy relatives.

Journal: Journal of medical genetics
Published: September 15, 2025

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Journal: medRxiv : the preprint server for health sciences
Published: April 16, 2025

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Journal: American journal of human genetics
Published: April 01, 2025

Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.

Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.

Journal: International journal of molecular sciences
Published: March 14, 2025

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Journal: Nature genetics
Published: October 02, 2024

Radiation-induced morphea of the breast - characterization and treatment of fibroblast dysfunction with repurposed mesalazine.

Radiation-induced morphea of the breast - characterization and treatment of fibroblast dysfunction with repurposed mesalazine.

Journal: Scientific reports
Published: May 21, 2024

Stratifying esophago-gastric cancer treatment using a patient-derived organoid-based threshold.

Stratifying esophago-gastric cancer treatment using a patient-derived organoid-based threshold.

Journal: Molecular cancer
Published: November 17, 2023

Exploring evolutionary trajectories in ovarian cancer patients by longitudinal analysis of ctDNA.

Exploring evolutionary trajectories in ovarian cancer patients by longitudinal analysis of ctDNA.

Journal: Clinical chemistry and laboratory medicine
Published: November 09, 2023

Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis.

Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis.

Journal: Frontiers in genetics
Published: September 20, 2023

Regulation of epinephrine biosynthesis in HRAS-mutant paragangliomas.

Regulation of epinephrine biosynthesis in HRAS-mutant paragangliomas.

Journal: Endocrine-related cancer
Published: July 17, 2023

Clinical Impact of Polygenic Risk Score for Breast Cancer Risk Prediction in 382 Individuals with Hereditary Breast and Ovarian Cancer Syndrome.

Clinical Impact of Polygenic Risk Score for Breast Cancer Risk Prediction in 382 Individuals with Hereditary Breast and Ovarian Cancer Syndrome.

Journal: Cancers
Published: June 22, 2023
Showing 1-12 of 25

Last Updated: 09/26/2026