| Rank | Title | Journal | Year | PubWeight™‹?› |
|---|---|---|---|---|
| 1 | Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. | Am J Hum Genet | 2007 | 2.07 |
| 2 | Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma. | Nat Genet | 2013 | 1.45 |