Nicole Weisschuh
University of Tübingen
Publications 93
#1Mark James Simcoe ('KCL': King's College London)H-Index: 1
#2Nicole WeisschuhH-Index: 22
Last.Christopher J. Hammond ('KCL': King's College London)H-Index: 46
view all 5 authors...
Importance Mechanisms behind pigmentary glaucoma, a form of early-onset glaucoma that may potentially lead to severe visual impairment or blindness, are poorly understood. Objective To calculate the single-nucleotide polymorphism (SNP) heritability of pigmentary glaucoma and identify genetic associations with the disease. Design, Setting and Participants This genome-wide association study included affected individuals from Germany and control participants from the United Kingdom. Genome-wide inf...
#1Nicole Weisschuh (University of Tübingen)H-Index: 22
#2Marc Sturm (University of Tübingen)H-Index: 17
Last.Susanne Kohl (University of Tübingen)H-Index: 34
view all 25 authors...
#1K. Stingl (University of Tübingen)H-Index: 12
#2Laura Kuehlewein (University of Tübingen)H-Index: 2
Last.Katarina Stingl (University of Tübingen)H-Index: 14
view all 12 authors...
#1Katja Kloth (UHH: University of Hamburg)H-Index: 3
#2Matthis Synofzik (University of Tübingen)H-Index: 37
Last.Nicole Weisschuh (University of Tübingen)H-Index: 22
view all 8 authors...
Background Reports on autosomal recessive optic atrophy (arOA) are sparse and so far, only one gene has been specifically associated with non-syndromic arOA, namely TMEM126A. To date, all reports of pathogenic TMEM126A variants are from affected individuals of Maghrebian origin, who all carry an identical nonsense variant. Here we report two novel variants in the TMEM126A gene from non-Maghreb individuals, both found in affected individuals with an arOA phenotype.
1 CitationsSource
#1Miriam Bauwens (UGent: Ghent University)H-Index: 3
#2Stephan Storch (UHH: University of Hamburg)H-Index: 19
Last.Elfride De Baere (UGent: Ghent University)H-Index: 38
view all 11 authors...
Biallelic MFSD8 variants are an established cause of severe late-infantile subtype of neuronal ceroid lipofuscinosis (v-LINCL), a severe lysosomal storage disorder, but have also been associated with nonsyndromic adult-onset maculopathy. Here, we functionally characterized two novel MFSD8 variants found in a child with juvenile isolated maculopathy, in order to establish a refined prognosis. ABCA4 locus resequencing was followed by the analysis of other inherited retinal disease genes by whole e...
#1Britta Feldhaus (University of Tübingen)H-Index: 1
#2Nicole Weisschuh (University of Tübingen)H-Index: 22
Last.Ditta Zobor (University of Tübingen)H-Index: 10
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Abstract Purpose Gene therapy for Leber congenital amaurosis (LCA) is becoming available, therefore, it is crucial to identify eligible candidates. We report the spectrum and associated phenotype of CEP290 mutations in the largest German cohort observed by a single clinical site. Design prospective cohort study Methods Twenty-three patients with mutations in CEP290 were included. Genomic DNA was analyzed by Sanger sequencing or high-throughput sequencing for all RP-associated genes in patients, ...
#1Bo Gong (CAS: Chinese Academy of Sciences)H-Index: 17
#2Houbin Zhang (University of Electronic Science and Technology of China)H-Index: 4
Last.Zhenglin Yang (CAS: Chinese Academy of Sciences)H-Index: 34
view all 41 authors...
Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness worldwide and mutations in known genes can only explain 5–6% of POAG. This study was conducted to identify novel POAG-causing genes and explore the pathogenesis of this disease. Exome sequencing was performed in a Han Chinese cohort comprising 398 sporadic cases with POAG and 2010 controls, followed by replication studies by Sanger sequencing. A heterozygous Ramp2 knockout mouse model was generated for in vivo func...
3 CitationsSource
#1Miriam Bauwens (Ghent University Hospital)H-Index: 9
#2Alejandro Garanto (Radboud University Nijmegen)H-Index: 13
Last.Elfride De Baere (Ghent University Hospital)H-Index: 38
view all 30 authors...
ABCA4-associated disease, a recessive retinal dystrophy, is hallmarked by a large proportion of patients with only one pathogenic ABCA4 variant, suggestive for missing heritability. By locus-specific analysis of ABCA4, combined with extensive functional studies, we aimed to unravel the missing alleles in a cohort of 67 patients (p), with one (p = 64) or no (p = 3) identified coding pathogenic variants of ABCA4. We identified eight pathogenic (deep-)intronic ABCA4 splice variants, of which five a...
10 CitationsSource