Associated Papers
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.
Zobor D et al.
International Journal of Molecular Sciences, 2023
37240262 (PubMed )
Supplement: ijms-24-08915-s001.zip › ijms-2363585-supplementary.pdf
Autophagy and Mitophagy-Related Pathways at the Crossroads of Genetic Pathways Involved in Familial Sarcoidosis and Host-Pathogen Interactions Induced by Coronaviruses.
Pacheco Y et al.
Cells, 2021
34440765 (PubMed )
Supplement: cells-10-01995-s001.zip › Table_S1_-_Pacheco_and_al_-_Manuscript_ID_CELLS_1218790.xlsx › Feuil1
The spermatogenesis-associated protein-7 (SPATA7) gene - an overview.
Kannabiran C
Ophthalmic Genetics, 2020
Spectrum, frequency, and genotype-phenotype of mutations in SPATA7.
Xiao X et al.
Molecular Vision, 2019
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
Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family.
Feldhaus B et al.
Ophthalmic Genetics, 0
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