Tobias Eisenberger
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Explore the profile of Tobias Eisenberger including associated specialties, affiliations and a list of published articles.
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24
Citations
1289
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Recent Articles
1.
Tran U, Streets A, Smith D, Decker E, Kirschfink A, Izem L, et al.
bioRxiv
. 2024 Sep;
PMID: 39253489
Background: Autosomal dominant polycystic kidney disease (ADPKD) is primarily of adult-onset and caused by pathogenic variants in or . Yet, disease expression is highly variable and includes very early-onset PKD...
2.
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations
Devane J, Ott E, Olinger E, Epting D, Decker E, Friedrich A, et al.
Am J Hum Genet
. 2022 Apr;
109(5):928-943.
PMID: 35397207
Organ fibrosis is a shared endpoint of many diseases, yet underlying mechanisms are not well understood. Several pathways governed by the primary cilium, a sensory antenna present on most vertebrate...
3.
Epting D, Decker E, Ott E, Eisenberger T, Bader I, Bachmann N, et al.
Hum Mol Genet
. 2022 Feb;
31(14):2295-2306.
PMID: 35137054
Mutations in genes that lead to dysfunctional cilia can cause a broad spectrum of human disease phenotypes referred to as ciliopathies. Many ciliopathy-associated proteins are localized to the evolutionary conserved...
4.
Birtel J, Gliem M, Mangold E, Muller P, Holz F, Neuhaus C, et al.
PLoS One
. 2018 Dec;
13(12):e0207958.
PMID: 30543658
Retinitis pigmentosa (RP) is an inherited degenerative disease causing severe retinal dystrophy and visual impairment mainly with onset in infancy or adolescence. Targeted next-generation sequencing (NGS) has become an efficient...
5.
Birtel J, Eisenberger T, Gliem M, Muller P, Herrmann P, Betz C, et al.
Sci Rep
. 2018 Mar;
8(1):4824.
PMID: 29555955
Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations solely or predominantly involving the central retina. Targeted next-generation sequencing (NGS) is an efficient diagnostic...
6.
Eisenberger T, Di Donato N, Decker C, Delle Vedove A, Neuhaus C, Nurnberg G, et al.
Genet Med
. 2018 Jan;
20(6):614-621.
PMID: 29309402
PurposeHearing loss is genetically extremely heterogeneous, making it suitable for next-generation sequencing (NGS). We identified a four-generation family with nonsyndromic mild to severe hearing loss of the mid- to high...
7.
Neuhaus C, Eisenberger T, Decker C, Nagl S, Blank C, Pfister M, et al.
Mol Genet Genomic Med
. 2017 Sep;
5(5):531-552.
PMID: 28944237
Background: Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP). Methods: Sanger...
8.
Khan A, Eisenberger T, Nagel-Wolfrum K, Wolfrum U, Bolz H
Br J Ophthalmol
. 2015 Aug;
99(12):1725-31.
PMID: 26294103
Background/aim: We have noted a phenotype of early-onset retinal dystrophy with macular staphyloma but without high myopia. The aim of this study is to report the underlying genetic mutations and...
9.
Thoenes M, Zimmermann U, Ebermann I, Ptok M, Lewis M, Thiele H, et al.
Orphanet J Rare Dis
. 2015 Mar;
10:15.
PMID: 25759012
Background: Early-onset hearing loss is mostly of genetic origin. The complexity of the hearing process is reflected by its extensive genetic heterogeneity, with probably many causative genes remaining to be...
10.
Eisenberger T, Decker C, Hiersche M, Hamann R, Decker E, Neuber S, et al.
PLoS One
. 2015 Feb;
10(2):e0116680.
PMID: 25646624
Renal cysts are clinically and genetically heterogeneous conditions. Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent life-threatening genetic disease and mainly caused by mutations in PKD1. The presence...