| Rank | Title | Journal | Year | PubWeight™‹?› |
|---|---|---|---|---|
| 1 | Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. | PLoS Genet | 2011 | 1.54 |
| 2 | Analysis of DNA sequence variants detected by high-throughput sequencing. | Hum Mutat | 2012 | 1.28 |
| 3 | Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis. | Neurology | 2012 | 1.11 |