| Rank | Title | Journal | Year | PubWeight™‹?› |
|---|---|---|---|---|
| 1 | Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. | J Med Genet | 2009 | 1.74 |
| 2 | Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63. | Clin Genet | 2010 | 1.55 |
| 3 | Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. | Am J Med Genet C Semin Med Genet | 2013 | 0.98 |
| 4 | De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. | Clin Genet | 2014 | 0.85 |
| 5 | Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan. | Clin Genet | 2012 | 0.79 |