| Rank | Title | Journal | Year | PubWeight™‹?› |
|---|---|---|---|---|
| 1 | Identification and characterization of a spinal muscular atrophy-determining gene. | Cell | 1995 | 17.41 |
| 2 | A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. | Nat Genet | 1995 | 2.24 |
| 3 | The role of the SMN gene in proximal spinal muscular atrophy. | Hum Mol Genet | 1998 | 1.24 |
| 4 | SMN gene deletion in variant of infantile spinal muscular atrophy. | Lancet | 1995 | 1.05 |
| 5 | Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. | J Med Genet | 1996 | 1.02 |
| 6 | Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P). | Am J Med Genet | 2001 | 0.88 |
| 7 | SMN gene deletions in adult-onset spinal muscular atrophy. | Lancet | 1996 | 0.86 |
| 8 | De novo deletions in spinal muscular atrophy: implications for genetic counselling. | J Med Genet | 1997 | 0.85 |
| 9 | [Identification of the gene determining spinal muscular atrophy: perspectives]. | Arch Pediatr | 1995 | 0.75 |