| Rank | Title | Journal | Year | PubWeight™‹?› |
|---|---|---|---|---|
| 1 | A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy. | Dis Model Mech | 2016 | 0.75 |
| 2 | Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants. | Hum Genet | 2022 | 0.75 |