| Rank | Title | Journal | Year | PubWeight™‹?› |
|---|---|---|---|---|
| 1 | Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype? | J Med Genet | 2001 | 1.38 |
| 2 | Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. | J Med Genet | 2004 | 1.30 |
| 3 | Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. | Prenat Diagn | 2010 | 1.17 |
| 4 | Siblings with Bohring-Opitz syndrome. | Clin Dysmorphol | 2003 | 0.85 |
| 5 | Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type. | J Pediatr Orthop B | 2006 | 0.75 |
| 6 | An association of multiple well differentiated liposarcomas, lipomatous tissue and hereditary retinoblastoma. | Sarcoma | 2005 | 0.75 |