| Rank | Title | Journal | Year | PubWeight™‹?› |
|---|---|---|---|---|
| 1 | Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. | J Inherit Metab Dis | 2010 | 1.19 |
| 2 | Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. | Ann Neurol | 2010 | 1.16 |
| 3 | The CLCA gene locus as a modulator of the gastrointestinal basic defect in cystic fibrosis. | Hum Genet | 2004 | 1.14 |
| 4 | COL4A2 mutation associated with familial porencephaly and small-vessel disease. | Eur J Hum Genet | 2012 | 0.98 |
| 5 | Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. | Orphanet J Rare Dis | 2013 | 0.91 |
| 6 | Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX. | Am J Med Genet A | 2012 | 0.78 |
| 7 | Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities. | Dev Med Child Neurol | 2011 | 0.75 |