Associated Papers
Characterizing the pathogenicity of genetic variants: the consequences of context.
Ciesielski TH et al.
Npj Genomic Medicine, 2024
De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline.
Maggi J et al.
Genes, 2020
Identification of Novel Deletions as the Underlying Cause of Retinal Degeneration in Two Pedigrees.
Branham K et al.
Advances in Experimental Medicine and Biology, 2018
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