| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics |  | | 2021 | 171 | 114 |
|
| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics |  | | 2016 | 749 | 354 |
|
| Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration | Stem cells |  | | 2015 | 655 | 0 |
|
| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Human mutation |  | | 2014 | 704 | 4 |
|
| DNA methylation profiles of human active and inactive X chromosomes | Genome research |  | | 2011 | 675 | 0 |
|