| Title : Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children - Mestek-Boukhibar_2018_J.Med.Genet_55_721 |
| Author(s) : Mestek-Boukhibar L , Clement E , Jones WD , Drury S , Ocaka L , Gagunashvili A , Le Quesne Stabej P , Bacchelli C , Jani N , Rahman S , Jenkins L , Hurst JA , Bitner-Glindzicz M , Peters M , Beales PL , Williams HJ |
| Ref : Journal of Medical Genetics , 55 :721 , 2018 |
| Abstract : Mestek-Boukhibar_2018_J.Med.Genet_55_721 |
| ESTHER : Mestek-Boukhibar_2018_J.Med.Genet_55_721 |
| PubMedSearch : Mestek-Boukhibar_2018_J.Med.Genet_55_721 |
| PubMedID: 30049826 |
| Title : Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes - Reid_2016_Brain_139_2844 |
| Author(s) : Reid ES , Papandreou A , Drury S , Boustred C , Yue WW , Wedatilake Y , Beesley C , Jacques TS , Anderson G , Abulhoul L , Broomfield A , Cleary M , Grunewald S , Varadkar SM , Lench N , Rahman S , Gissen P , Clayton PT , Mills PB |
| Ref : Brain , 139 :2844 , 2016 |
| Abstract : Reid_2016_Brain_139_2844 |
| ESTHER : Reid_2016_Brain_139_2844 |
| PubMedSearch : Reid_2016_Brain_139_2844 |
| PubMedID: 27604308 |