Associated Papers
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.
Maggi J et al.
International Journal of Molecular Sciences, 2024
38928247 (PubMed )
Supplement: ijms-25-06540-s001.zip › Manuscript_WGS_Table_S3.pdf
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › d__Freq_TP093
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.
Perrault I et al.
Plos One, 2013
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
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.
Friedman JS et al.
American Journal of Human Genetics, 2006
RD3: a challenge and a promise.
Azadi S
Jsm Biotechnology & Biomedical Engineering, 0
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