Korbinian Riedhammer
19PUBLICATIONS
135CO-AUTHORS
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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, in vitro, and in vivo evidence of WAPL 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
