| Rank | Title | Journal | Year | PubWeight™‹?› |
|---|---|---|---|---|
| 1 | Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. | Nat Genet | 2011 | 3.97 |
| 2 | Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. | Nat Genet | 2013 | 1.18 |
| 3 | Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. | Am J Hum Genet | 2011 | 1.12 |
| 4 | Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype. | Neurogenetics | 2013 | 0.79 |