Lauren Akesson

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

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 104 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17

<i>Aspergillus</i> Infections and Progression of Structural Lung Disease in Children with Cystic Fibrosis

Oded Breuer, André Schultz, Luke W. Garratt et al. · American Journal of Respiratory and Critical Care Medicine · 2019 · 66 citations

Medicine, Child Health, Pediatrics +16

The clinical significance of oropharyngeal cultures in young children with cystic fibrosis

Oded Breuer, Daan Caudri, Lauren Akesson et al. · European Respiratory Journal · 2018 · 36 citations · Full text

Medicine, Child Health, Pediatrics +17

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing

Lauren Akesson, Stefanie Eggers, Clare J. Love et al. · European Journal of Human Genetics · 2019 · 33 citations · Full text

Medicine, Genetics, Pediatrics +17