Manuel Holtgrewe

Berlin, BE, Germany

Last Updated: 09/26/2026

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Found 49 publications

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: January 13, 2026

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: June 24, 2025

Evidence for a transgenerational mutational signature from ionizing radiation exposure in humans.

Evidence for a transgenerational mutational signature from ionizing radiation exposure in humans.

Journal: Scientific reports

Published: May 24, 2024

REEV: review, evaluate and explain variants.

REEV: review, evaluate and explain variants.

Journal: Nucleic acids research

Published: February 13, 2024

Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis.

Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis.

Journal: Genes

Published: February 06, 2024

Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.

Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.

Journal: Human genetics

Published: November 30, 2023

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: July 19, 2023

TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients.

TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients.

Journal: Neurobiology of aging

Published: October 23, 2022

SODAR: managing multiomics study data and metadata.

SODAR: managing multiomics study data and metadata.

Journal: GigaScience

Published: July 22, 2022

Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations.

Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations.

Journal: HGG advances

Published: June 01, 2022

Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis-Further Impact of Heterozygous Immune Disorder Gene Variants?

Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis-Further Impact of Heterozygous Immune Disorder Gene Variants?

Journal: Journal of cardiovascular development and disease

Published: May 19, 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

Showing 1-12 of 49

Last Updated: 09/26/2026