Lauren S. Akesson

Microarray diagnosis of autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy caused by a novel homozygous intragenic AIRE deletion

S. White, P. Simm, M. Oliver, 2020, Journal of paediatrics and child health.

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

N. Brown, J. Christodoulou, Z. Stark, 2019, European Journal of Human Genetics.

Airway tapering: an objective image biomarker for bronchiectasis

Marleen de Bruijne, Edward Y Lee, F. Fraioli, 2020, European Radiology.

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

S. Stick, S. Ranganathan, A. Schultz, 2018, European Respiratory Journal.

Lipoprotein lipase deficiency presenting with neonatal perianal abscesses

J. Burnett, Andrew C Martin, Lauren S. Akesson, 2016, BMJ Case Reports.

Aspergillus Infections and Progression of Structural Lung Disease in Children with Cystic Fibrosis.

P. Sly, L. Garratt, S. Stick, 2019, American journal of respiratory and critical care medicine.

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

N. Brown, S. Sandaradura, T. Roscioli, 2020, JAMA.

Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies

N. Brown, H. Hakonarson, Yiran Guo, 2022, JIMD reports.

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

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate

J. Christodoulou, Z. Stark, K. Rose, 2020, Human mutation.