Jeremias Krause
Aachen, NW, Germany
Last Updated: 09/26/2026
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Found 23 publications
Exome and Genome Sequencing for the Diagnosis of Rare Diseases.
Journal: Deutsches Arzteblatt international
Published: March 19, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: medRxiv : the preprint server for health sciences
Published: September 15, 2025
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: Nature genetics
Published: September 02, 2025
The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients.
Journal: European journal of human genetics : EJHG
Published: August 28, 2025
Utilizing protein structure graph embeddings to predict the pathogenicity of missense variants.
Journal: NAR genomics and bioinformatics
Published: February 11, 2025
Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver-Russell phenotype.
Journal: Clinical epigenetics
Published: December 19, 2024
Brain malformations and seizures by impaired chaperonin function of TRiC.
Journal: Science (New York, N.Y.)
Published: October 31, 2024
CNVizard-a lightweight streamlit application for an interactive analysis of copy number variants.
Journal: BMC bioinformatics
Published: September 10, 2024
11p13 microduplication: a differential diagnosis of Silver-Russell syndrome?
Journal: Molecular cytogenetics
Published: December 22, 2023
Pan-cancer image-based detection of clinically actionable genetic alterations.
Journal: Nature cancer
Published: March 25, 2021
Last Updated: 09/26/2026