| Rank | Title | Journal | Year | PubWeight™‹?› |
|---|---|---|---|---|
| 1 | Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. | Am J Hum Genet | 2010 | 1.06 |
| 2 | Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. | Am J Med Genet A | 2011 | 0.92 |
| 3 | Further delineation of the Van den Ende-Gupta syndrome. | Am J Med Genet A | 2010 | 0.86 |
| 4 | Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. | Am J Med Genet A | 2015 | 0.81 |
| 5 | Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder. | Am J Med Genet A | 2014 | 0.75 |