Julia Hoefele

20PUBLICATIONS
131CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Genetics not elsewhere classifiedPredictive and prognostic markersMolecular targetsCardiology (incl. cardiovascular diseases)
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Publications (20)

|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 12, 2026
'Missing' disease-causing variants in Alport syndrome.

Judy Savige, Adam M Bournazos, Tomoko Horinouchi

|May 19, 2025
Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies.

Susan M McAnallen, Elhussein A E Elhassan, Sinead Stoneman

|Dec 12, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorder.

Cosima M Schmid, Anne Gregor, Anna Ruiz

|Aug 03, 2024
Extrarenal manifestations in inherited kidney diseases.

Julia Hoefele, Julian Eble, Tobias Hermle

|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

Korbinian Maria Riedhammer

5 joint publications

Alessandra Renieri

4 joint publications

Constantinos Deltas

3 joint publications

Judy Savige