| Rank | Title | Journal | Year | PubWeight™‹?› |
|---|---|---|---|---|
| 1 | Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. | Nat Genet | 2010 | 3.82 |
| 2 | Phenotypic spectrum associated with CASK loss-of-function mutations. | J Med Genet | 2011 | 1.11 |
| 3 | De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. | Am J Hum Genet | 2017 | 0.75 |