| Rank | Title | Journal | Year | PubWeight™‹?› |
|---|---|---|---|---|
| 1 | A de novo paradigm for mental retardation. | Nat Genet | 2010 | 8.57 |
| 2 | De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. | Nat Genet | 2010 | 5.72 |
| 3 | Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. | Am J Hum Genet | 2010 | 3.47 |
| 4 | De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. | Nat Genet | 2011 | 2.09 |