Rank | Title | Journal | Year | PubWeight™‹?› |
---|---|---|---|---|
1 | Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. | Mol Genet Genomic Med | 2017 | 0.75 |