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Julia Hoefele

20PUBLICATIONS

131CO-AUTHORS

Gene expression (incl. microarray and other genome-wide approaches)Genetics not elsewhere classifiedNeurogeneticsPredictive and prognostic markersMolecular targets

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Publications (20)

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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 12, 2026

'Missing' disease-causing variants in Alport syndrome.

Judy Savige, Adam M Bournazos, Tomoko Horinouchi

|Feb 19, 2026

Genetic kidney diseases - from discovery to precision care.

Matias Simons, Julia Hoefele

|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

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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

3 joint publications

Anna Maria Pinto

2 joint publications

Matias Wagner

2 joint publications

Louise Hopkinson

2 joint publications

Pascale Hilbert

2 joint publications

Helen Storey

2 joint publications

Laura Bryant

Frequent Collaborators

8 joint publications

Korbinian Maria Riedhammer

5 joint publications

Alessandra Renieri

4 joint publications

Constantinos Deltas

3 joint publications

Judy Savige

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