| Rank | Title | Journal | Year | PubWeight™‹?› |
|---|---|---|---|---|
| 1 | A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. | Am J Hum Genet | 2012 | 1.17 |
| 2 | Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. | Eur J Hum Genet | 2012 | 1.02 |