| Rank | Title | Journal | Year | PubWeight™‹?› |
|---|---|---|---|---|
| 1 | Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. | Hum Mol Genet | 1994 | 1.68 |
| 2 | Positional cloning of a gene involved in hereditary multiple exostoses. | Hum Mol Genet | 1996 | 1.58 |
| 3 | DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene. | Am J Med Genet | 1994 | 1.18 |
| 4 | The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells. | Am J Med Genet | 1996 | 1.04 |
| 5 | Noninvasive test for fragile X syndrome, using hair root analysis. | Am J Hum Genet | 1999 | 0.95 |
| 6 | Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications. | Mol Syndromol | 2011 | 0.87 |
| 7 | DNA testing for fragile X syndrome: implications for parents and family. | J Med Genet | 1997 | 0.76 |
| 8 | Skeletal dysplasias. | Arch Dis Child | 1998 | 0.75 |