Heidi Stohr

Franz Josef Strauss Allee 11
Regensburg, BY 93053, Germany

Last Updated: 09/26/2026

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Found 40 publications

Patient-Reported Social Impact of Molecularly Confirmed Macular Dystrophies and Cone-Rod Dystrophies.

Patient-Reported Social Impact of Molecularly Confirmed Macular Dystrophies and Cone-Rod Dystrophies.

Journal: Journal of clinical medicine

Published: September 17, 2025

Bilateral Sector Macular Dystrophy Associated with PRPH2 Variant c.623G>A (p.Gly208Asp).

Bilateral Sector Macular Dystrophy Associated with PRPH2 Variant c.623G>A (p.Gly208Asp).

Journal: Journal of clinical medicine

Published: June 16, 2025

Patient-Reported Social Impact of Molecularly Confirmed Retinitis Pigmentosa.

Patient-Reported Social Impact of Molecularly Confirmed Retinitis Pigmentosa.

Journal: Journal of clinical medicine

Published: April 13, 2025

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.

Journal: Scientific reports

Published: June 17, 2024

Workshop report: Clinical training and integration of genetic counselors into interprofessional teams in the German-speaking countries.

Workshop report: Clinical training and integration of genetic counselors into interprofessional teams in the German-speaking countries.

Journal: Genetics in medicine open

Published: January 30, 2024

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Journal: Biomolecules

Published: January 29, 2024

Mitochondrial and Cellular Function in Fibroblasts, Induced Neurons, and Astrocytes Derived from Case Study Patients: Insights into Major Depression as a Mitochondria-Associated Disease.

Mitochondrial and Cellular Function in Fibroblasts, Induced Neurons, and Astrocytes Derived from Case Study Patients: Insights into Major Depression as a Mitochondria-Associated Disease.

Journal: International journal of molecular sciences

Published: November 28, 2023

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.

Journal: HGG advances

Published: June 05, 2023

Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations.

Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations.

Journal: International journal of molecular sciences

Published: November 14, 2022

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.

Journal: The Journal of clinical investigation

Published: April 18, 2022

Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene.

Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene.

Journal: International journal of molecular sciences

Published: October 24, 2020

Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.

Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.

Journal: JAMA ophthalmology

Published: August 21, 2020

Showing 1-12 of 40

Last Updated: 09/26/2026