| Rank | Title | Journal | Year | PubWeight™‹?› |
|---|---|---|---|---|
| 1 | Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. | Hum Mutat | 2012 | 1.19 |
| 2 | Characterisation of Fmrp in zebrafish: evolutionary dynamics of the fmr1 gene. | Dev Genes Evol | 2005 | 0.92 |
| 3 | A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing. | Hum Mutat | 2013 | 0.86 |
| 4 | Androgen receptor function links human sexual dimorphism to DNA methylation. | PLoS One | 2013 | 0.79 |