Susanne Kohl

29PUBLICATIONS
258CO-AUTHORS
Neurology and neuromuscular diseasesSensory systemsVision scienceInfant and child healthGene expression (incl. microarray and other genome-wide approaches)
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Publications (29)

|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

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

Jan-Philipp Bodenbender, Annekatrin Rickmann, Katarina Stingl

|May 19, 2025
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

Eline Van Vooren, Filip Van den Broeck, Quinten Mahieu

|Apr 30, 2025
Comprehensive functional splicing analysis of non-canonical CNGB3 variants using in vitro minigene splice assays.

Katharina Rawnsley, Nicole Weisschuh, Susanne Kohl

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Frequent Collaborators

15 joint publications

Katarina Stingl

10 joint publications

Bernd Wissinger

7 joint publications

Laura Kühlewein

6 joint publications

Tobias Haack