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» Authors » Tobias Eisenberger

Tobias Eisenberger

Explore the profile of Tobias Eisenberger including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 24
Citations 1289
Followers 0
Related Specialties
Genetics
Science
General Medicine
Top 10 Co-Authors
Carsten Bergmann
Hanno J Bolz
Christian Decker
Christine Neuhaus
Peter Nurnberg
Gudrun Nurnberg
Eva Decker
Arif O Khan
Valeska Frank
Peter Charbel Issa
Published In
Br J Ophthalmol
Hum Mutat
PLoS One
Proc Natl Acad Sci U S A
Orphanet J Rare Dis
Affiliations
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Recent Articles
11.
A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula
Khan A, Bergmann C, Eisenberger T, Bolz H
Br J Ophthalmol . 2014 Oct; 99(4):488-92. PMID: 25342276
Background: In Arabian children referred with retinal dystrophy, we have observed that a specific biallelic nonsense mutation in the gene encoding tubby-like protein 1 (TULP1, c.901C>T (p.Gln301*)) is recurrent. This...
12.
Mutation of POC1B in a severe syndromic retinal ciliopathy
Beck B, Phillips J, Bartram M, Wegner J, Thoenes M, Pannes A, et al.
Hum Mutat . 2014 Jul; 35(10):1153-62. PMID: 25044745
We describe a consanguineous Iraqi family with Leber congenital amaurosis (LCA), Joubert syndrome (JBTS), and polycystic kidney disease (PKD). Targeted next-generation sequencing for excluding mutations in known LCA and JBTS...
13.
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness
Eisenberger T, Di Donato N, Baig S, Neuhaus C, Beyer A, Decker E, et al.
Hum Mutat . 2014 Mar; 35(5):565-70. PMID: 24616153
MYO1A is considered the gene underlying autosomal dominant nonsyndromic hearing loss DFNA48, based on six missense variants, one small in-frame insertion, and one nonsense mutation. Results from NGS targeting 66...
14.
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies
Fehrenbach H, Decker C, Eisenberger T, Frank V, Hampel T, Walden U, et al.
Pediatr Nephrol . 2014 Feb; 29(8):1451-6. PMID: 24504730
Background: An emerging number of clinically and genetically heterogeneous diseases now collectively termed ciliopathies have been connected to the dysfunction of primary cilia. We describe an 8-year-old girl with a...
15.
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies
Eisenberger T, Neuhaus C, Khan A, Decker C, Preising M, Friedburg C, et al.
PLoS One . 2013 Nov; 8(11):e78496. PMID: 24265693
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. They result from mutations in many genes which has long hampered comprehensive genetic analysis. Recently, targeted next-generation...
16.
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
Hoff S, Halbritter J, Epting D, Frank V, Nguyen T, van Reeuwijk J, et al.
Nat Genet . 2013 Jun; 45(8):951-6. PMID: 23793029
Nephronophthisis is an autosomal recessive cystic kidney disease that leads to renal failure in childhood or adolescence. Most NPHP gene products form molecular networks. Here we identify ANKS6 as a...
17.
The RPGRIP1-related retinal phenotype in children
Khan A, Abu-Safieh L, Eisenberger T, Bolz H, Alkuraya F
Br J Ophthalmol . 2013 Mar; 97(6):760-4. PMID: 23505306
Aim: To characterise the childhood retinal phenotype associated with recessive mutations in retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), a gene that has been infrequently associated with Leber congenital...
18.
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression
Frank V, Habbig S, Bartram M, Eisenberger T, Veenstra-Knol H, Decker C, et al.
Hum Mol Genet . 2013 Feb; 22(11):2177-85. PMID: 23418306
Mutations affecting the integrity and function of cilia have been identified in various genes over the last decade accounting for a group of diseases called ciliopathies. Ciliopathies display a broad...
19.
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease
Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet A, Antony D, et al.
Hum Mutat . 2013 Feb; 34(5):714-24. PMID: 23418020
Ciliopathies are genetically heterogeneous disorders characterized by variable expressivity and overlaps between different disease entities. This is exemplified by the short rib-polydactyly syndromes, Jeune, Sensenbrenner, and Mainzer-Saldino chondrodysplasia syndromes. These...
20.
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
Eisenberger T, Slim R, Mansour A, Nauck M, Nurnberg G, Nurnberg P, et al.
Orphanet J Rare Dis . 2012 Sep; 7:59. PMID: 22938382
Background: Usher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP). We have identified a consanguineous Lebanese family with two affected...