George Elakis

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

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

Lisa Ewans, André E. Minoche, Deborah Schofield et al. · European Journal of Human Genetics · 2022 · 119 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

Elizabeth E. Palmer, Deborah Schofield, Rupendra Shrestha et al. · Molecular Genetics & Genomic Medicine · 2018 · 113 citations · Full text

Medicine, Genetics, Neurology +13

Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency

Stefano Vavassori, Janet Chou, Laura Faletti et al. · Journal of Allergy and Clinical Immunology · 2021 · 87 citations · Full text

Veterinary Medicine, Immunology, Infectious Diseases +16

Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

Tony Roscioli, George Elakis, Timothy C. Cox et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2013 · 51 citations · Full text

Medicine, Genetics, Molecular Genetics +16