Rank | Title | Journal | Year | PubWeight™‹?› |
---|---|---|---|---|
1 | Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. | Hum Mutat | 2011 | 1.08 |
2 | The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. | Am J Med Genet A | 2013 | 0.97 |