Heidi Stohr
Overview
Explore the profile of Heidi Stohr including associated specialties, affiliations and a list of published articles.
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47
Citations
1105
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Recent Articles
1.
Stohr H, Weber B
Med Genet
. 2025 Feb;
37(1):3-10.
PMID: 39963373
Inherited retinal diseases are clinically and genetically highly heterogeneous conditions with many phenotypic overlaps, syndromic presentations and atypical manifestations. This article is a narrative review that offers an overview of...
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3.
Schwaninger G, Taxer K, Marti S, Cionca S, Freilinger P, Gemperle C, et al.
Genet Med Open
. 2024 Dec;
2(Suppl 2):101855.
PMID: 39712960
In spring 2022, the inaugural cohort of Genetic and Genomic Counseling MSc students graduated from the Medical University of Innsbruck, representing a significant milestone for the establishment of the genetic...
4.
Kiel C, Biasella F, Stohr H, Rating P, Spital G, Kellner U, et al.
Sci Rep
. 2024 Oct;
14(1):25529.
PMID: 39462066
Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are characterized by distinct genetic causes and molecular mechanisms that can lead to varying degrees of visual impairment. The discovery of...
5.
Hitti-Malin R, Panneman D, Corradi Z, Boonen E, Astuti G, Dhaenens C, et al.
Biomolecules
. 2024 Mar;
14(3).
PMID: 38540785
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion...
6.
Cardon I, Grobecker S, Kucukoktay S, Bader S, Jahner T, Nothdurfter C, et al.
Int J Mol Sci
. 2024 Jan;
25(2).
PMID: 38256041
The link between mitochondria and major depressive disorder (MDD) is increasingly evident, underscored both by mitochondria's involvement in many mechanisms identified in depression and the high prevalence of MDD in...
7.
Corradi Z, Khan M, Hitti-Malin R, Mishra K, Whelan L, Cornelis S, et al.
HGG Adv
. 2023 Sep;
4(4):100237.
PMID: 37705246
The ABCA4 gene is the most frequently mutated Mendelian retinopathy-associated gene. Biallelic variants lead to a variety of phenotypes, however, for thousands of cases the underlying variants remain unknown. Here,...
8.
Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Duenas Rey A, Kaseberg S, et al.
J Clin Invest
. 2023 Mar;
133(8).
PMID: 36862503
Defects in primary or motile cilia result in a variety of human pathologies, and retinal degeneration is frequently associated with these so-called ciliopathies. We found that homozygosity for a truncating...
9.
Gersch J, Hufendiek K, Delarocque J, Framme C, Jacobsen C, Stohr H, et al.
Int J Mol Sci
. 2022 Dec;
23(24).
PMID: 36555650
Inherited retinal diseases can result from various genetic defects and are one of the leading causes for blindness in the working-age population. The present study aims to provide a comprehensive...
10.
Hufendiek K, Hufendiek K, Jagle H, Stohr H, Book M, Spital G, et al.
Int J Mol Sci
. 2020 Dec;
21(24).
PMID: 33302512
Autosomal recessive bestrophinopathy (ARB) has been reported as clinically heterogeneous. Eighteen patients (mean age: 22.5 years; 15 unrelated families) underwent ophthalmological examination, fundus photography, fundus autofluorescence, and optical coherence tomography...