| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics |  | | 2021 | 175 | 124 |
|
| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | | 2016 | 755 | 364 |
|
| Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration | Stem cells |  | | 2015 | 662 | 0 |
|
| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Human mutation | | | 2014 | 710 | 4 |
|
| DNA methylation profiles of human active and inactive X chromosomes | Genome research | | | 2011 | 682 | 0 |
|
