ES
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics |  | 2021 | 165 | 87 | ||
| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | 2016 | 742 | 277 | ||
| Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration | Stem cells |  | 2015 | 649 | 0 | ||
| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Human mutation | | 2014 | 697 | 4 | ||
| DNA methylation profiles of human active and inactive X chromosomes | Genome research | | 2011 | 667 | 0 |
