Lauren Akesson

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

Adam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S Akesson, Mohammad Al-Shinnag, Stephen Alexander, Alison D Archibald, Shanti Balasubramaniam, Yemima Berman, Victoria Beshay, Kirsten Boggs, Jasmina Bojadzieva, Natasha J Brown, Samantha J Bryen, Michael F Buckley, Belinda Chong, Mark R Davis, Ruebena Dawes, Martin Delatycki, et al.

Journal article  |  2022  |  GENETICS IN MEDICINE

PURPOSE: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genet..

Peripartum Sinus Pauses in a Patient with a New Diagnosis of Congenital Long QT-2 Syndrome–A Management Dilemma

N Lammoza, Y Chen, J Wong, J Yao, L Akesson, I Macciocca, T Thompson, D Zentner

Journal article  |  2021  |  Heart, Lung and Circulation

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

Lauren S Akesson, Adam Bournazos, Andrew Fennell, Emma I Krzesinski, Kenneth Tan, Amanda Springer, Katherine Rose, Ilias Goranitis, David Francis, Crystle Lee, Fathimath Faiz, Mark R Davis, John Christodoulou, Sebastian Lunke, Zornitza Stark, Matthew F Hunter, Sandra T Cooper

Journal article  |  2020  |  HUMAN MUTATION

Rapid genomic diagnosis programs are transforming rare disease diagnosis in acute pediatrics. A ventilated newborn with cerebellar..

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

Lauren S Akesson, David Francis, Michelle de Silva, Theresa Cole, Peter Simm, Mark Oliver, Susan M White

Journal article  |  2020  |  JOURNAL OF PAEDIATRICS AND CHILD HEALTH

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, Chirag Patel, Christopher P Barnett, Jason Pinner, Sarah A Sandaradura, Michael F Buckley, Emma I Krzesinski, Michelle G de Silva, Gemma R Brett, Kirsten Boggs, David Mowat, Edwin P Kirk, Lesley C Ades, Lauren S Akesson, David J Amor, Samantha Ayres, Anne Baxendale, Sarah Borrie, et al.

Journal article  |  2020  |  JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

IMPORTANCE: Widespread adoption of rapid genomic testing in pediatric critical care requires robust clinical and laboratory pathwa..

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

Oded Breuer, Andre Schultz, Luke W Garratt, Lidija Turkovic, Tim Rosenow, Conor P Murray, Yuliya Karpievitch, Lauren Akesson, Samuel Dalton, Peter D Sly, Sarath Ranganathan, Stephen M Stick, Daan Caudri

Journal article  |  2020  |  AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Rationale: Recent data show that Aspergillus species are prevalent respiratory infections in children with cystic fibrosis (CF). T..

Rapid exome sequencing and adjunct rna studies confirm pathogenicity of a novel homozygous asns splicing variant in a critically ill neonate

Lauren S Akesson, Adam Bournazos, Andrew Fennell, Emma I Krzesinski, Kenneth Tan, Amanda Springer, Katherine Rose, undefined Ilias Goranitis, David Francis, Crystle Lee, John Christodoulou, Sebastian Lunke, Zornitza Stark, Matthew F Hunter, Sandra Cooper

Journal article  |  2020  |  Pathology

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

Lauren S Akesson, Stefanie Eggers, Clare J Love, Belinda Chong, Emma I Krzesinski, Natasha J Brown, Tiong Y Tan, Christopher M Richmond, David R Thorburn, John Christodoulou, Matthew F Hunter, Sebastian Lunke, Zornitza Stark

Journal article  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Rapid genomic testing is a valuable new diagnostic tool for acutely unwell infants, however exome sequencing does not deliver clin..

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

Oded Breuer, Daan Caudri, Lauren Akesson, Sarath Ranganathan, Stephen M Stick, Andre Schultz

Journal article  |  2018  |  EUROPEAN RESPIRATORY JOURNAL

In children with cystic fibrosis (CF) the associations between oropharyngeal swabs (OPSs) for detection of Pseudomonas and lung di..