Associated Papers
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
Bodenbender JP et al.
International Journal of Molecular Sciences, 2023
36769033 (PubMed )
Supplement: ijms-24-02709-s001.zip › Supplementary_Table_S1.pdf
Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
Chen X et al.
Journal of Translational Medicine, 2018
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Weisschuh N et al.
Plos One, 2016
Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
Ullah I et al.
Molecular Vision, 2016
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 et al.
Plos One, 2013
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