Stacy Hewson

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 · 565 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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 · 377 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

Saadet Mercimek‐Mahmutoglu, Jaina Patel, Dawn Cordeiro et al. · Epilepsia · 2015 · 249 citations · Full text

Medicine, Genetics, Neurology +16

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 · 134 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada

Anne Roscher, Jaina Patel, Stacy Hewson et al. · Molecular Genetics and Metabolism · 2014 · 122 citations

Life Sciences, Endocrinology, Molecular Biology +9