| Rank | Title | Journal | Year | PubWeight™‹?› |
|---|---|---|---|---|
| 1 | Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. | Nat Genet | 2012 | 1.90 |
| 2 | Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. | Am J Hum Genet | 2009 | 1.83 |
| 3 | Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. | Hum Mol Genet | 2013 | 1.36 |
| 4 | The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White. | Eur J Hum Genet | 2006 | 1.25 |
| 5 | The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. | Hum Mutat | 2006 | 1.14 |
| 6 | Estimation of the number of infectious measles viruses in live virus vaccines using quantitative real-time PCR. | J Virol Methods | 2004 | 0.84 |
| 7 | A case of neuromuscular mimicry. | Neuromuscul Disord | 2006 | 0.83 |