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Susanne Kohl

28PUBLICATIONS

255CO-AUTHORS

Sensory systemsVision scienceInfant and child healthGene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseases

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Publications (28)

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|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 <i>PRPF31</i>-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

|Apr 24, 2025

Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies.

Lasse Wolfram, David A Merle, Laura Kühlewein

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Frequent Collaborators

14 joint publications

Katarina Stingl

10 joint publications

Bernd Wissinger

6 joint publications

Laura Kühlewein

5 joint publications

Tobias Haack

5 joint publications

Nicole Weisschuh

4 joint publications

Ulrich Kellner

3 joint publications

Elfriede De Baere

3 joint publications

David G Birch

3 joint publications

Petra Liskova

3 joint publications

Alison J Hardcastle

Frequent Collaborators

14 joint publications

Katarina Stingl

10 joint publications

Bernd Wissinger

6 joint publications

Laura Kühlewein

5 joint publications

Tobias Haack

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