| Rank | Title | Journal | Year | PubWeight™‹?› |
|---|---|---|---|---|
| 1 | A de novo paradigm for mental retardation. | Nat Genet | 2010 | 8.57 |
| 2 | De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. | Nat Genet | 2010 | 5.72 |
| 3 | Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. | Am J Hum Genet | 2010 | 3.47 |
| 4 | STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. | N Engl J Med | 2011 | 3.11 |
| 5 | Massively parallel sequencing of ataxia genes after array-based enrichment. | Hum Mutat | 2010 | 2.60 |
| 6 | Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. | Am J Hum Genet | 2010 | 2.26 |
| 7 | Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. | Am J Hum Genet | 2010 | 1.40 |
| 8 | Functional genomics identifies type I interferon pathway as central for host defense against Candida albicans. | Nat Commun | 2013 | 1.31 |