| Rank | Title | Journal | Year | PubWeight™‹?› |
|---|---|---|---|---|
| 1 | A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. | Hum Mol Genet | 2012 | 0.87 |
| 2 | Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene. | Acta Ophthalmol | 2009 | 0.81 |
| 3 | SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features. | Epilepsy Behav | 2009 | 0.77 |