Laura Kühlewein

18PUBLICATIONS
210CO-AUTHORS
Neurology and neuromuscular diseasesSensory systemsVision scienceInfant and child healthKnowledge representation and reasoning
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Publications (18)

|Jul 17, 2026
Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.

|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Sep 16, 2025
OCT Biomarkers in a Cohort of Patients With PRPF31-Associated Retinitis Pigmentosa.

Jan-Philipp Bodenbender, Katarina Stingl, Susanne Kohl

|Aug 18, 2025
Safety and vision outcomes of subretinal gene supplementation therapy in PDE6A-associated retinitis pigmentosa: a non-randomised controlled trial.

Felix F Reichel, M Dominik Fischer, Katarina Stingl

|Jul 11, 2025
ABCA4-associated disease in childhood and adolescence- a phenotype study.

Jan-Philipp Bodenbender, Annekatrin Rickmann, Katarina Stingl

|May 15, 2025
Development and validation of an AI algorithm to generate realistic and meaningful counterfactuals for retinal imaging based on diffusion models.

Indu Ilanchezian, Valentyn Boreiko, Laura Kühlewein

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Frequent Collaborators

8 joint publications

Katarina Stingl

7 joint publications

Susanne Kohl

5 joint publications

Tobias Haack

4 joint publications

Omar Mahroo