Rebekah Jobling

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Anath C. Lionel, Gregory Costain, Nasim Monfared et al. · Genetics in Medicine · 2017 · 551 citations · Full text

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling et al. · npj Genomic Medicine · 2016 · 374 citations · Full text

Reappraisal of Reported Genes for Sudden Arrhythmic Death

S. Mohsen Hosseini, Raymond H. Kim, Sharmila Udupa et al. · Circulation · 2018 · 355 citations · Full text

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

Gregory Costain, Rebekah Jobling, Susan Walker et al. · European Journal of Human Genetics · 2018 · 126 citations · Full text

Genetic Testing, Sequencing, Diagnostic Advantage +13

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Carol-Anne Martin, Kata Sarlós, Clare V. Logan et al. · The American Journal of Human Genetics · 2018 · 94 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3