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Korbinian Riedhammer

19PUBLICATIONS

135CO-AUTHORS

Gene expression (incl. microarray and other genome-wide approaches)Genome structure and regulationNeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Cardiology (incl. cardiovascular diseases)

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Publications (19)

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|Mar 19, 2026

Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous results.

Korbinian M Riedhammer, Patrick Richthammer, Dominik S Westphal

|Mar 11, 2026

Clinical, <i>in vitro</i>, and <i>in vivo</i> evidence of <i>WAPL</i> as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Philip M Boone, Serkan Erdin, Abucar Mohamed

|Jun 24, 2025

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

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann

|Dec 12, 2024

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Cosima M Schmid, Anne Gregor, Anna Ruiz

|Jul 22, 2024

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

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann

|Jan 12, 2024

Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?

Korbinian M Riedhammer, Hannes Simmendinger, Velibor Tasic

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Frequent Collaborators

8 joint publications

Julia Hoefele

4 joint publications

Matias Wagner

4 joint publications

Dominik S Westphal

3 joint publications

Axel Schmidt

3 joint publications

Ayman W El-Hattab

3 joint publications

Theresa Brunet

3 joint publications

Tobias Haack

3 joint publications

Riccardo Berutti

2 joint publications

Anita Rauch

2 joint publications

Velibor Tasic

Frequent Collaborators

8 joint publications

Julia Hoefele

4 joint publications

Matias Wagner

4 joint publications

Dominik S Westphal

3 joint publications

Axel Schmidt

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