Gemma R. Brett

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

Zornitza Stark, Tiong Yang Tan, Belinda Chong et al. · Genetics in Medicine · 2016 · 411 citations · Full text

Life Sciences, Genetics, Pediatrics +16

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

Tiong Yang Tan, Oliver James Dillon, Zornitza Stark et al. · JAMA Pediatrics · 2017 · 327 citations

Life Sciences, Genetics, Pediatrics +17

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Sebastian Lunke, Stefanie Eggers, Meredith Wilson et al. · JAMA · 2020 · 237 citations · Full text

Medicine, Child Health, Pediatrics +13

Meeting the challenges of implementing rapid genomic testing in acute pediatric care

Zornitza Stark, Sebastian Lunke, Gemma R. Brett et al. · Genetics in Medicine · 2018 · 162 citations · Full text

Medicine, Genetics, Pediatrics +17

Integrated multi-omics for rapid rare disease diagnosis on a national scale

Sebastian Lunke, Sophie E. Bouffler, Chirag Patel et al. · Nature Medicine · 2023 · 141 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17