Dr Lauren Akesson
Clinical (Senior Lecturer)
Department of Medicine
11 Scholarly works
0 Projects
HIGHLIGHTS
2024
Journal article
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
DOI: 10.1016/j.gim.2024.1010762022
Journal article
Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies
DOI: 10.1002/jmd2.122802022
Journal article
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
DOI: 10.1016/j.gim.2021.09.0012021
Journal article
Microarray diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy caused by a novel homozygous intragenic AIRE deletion
DOI: 10.1111/jpc.151242021
Journal article
Peripartum Sinus Pauses in a Patient with a New Diagnosis of Congenital Long QT-2 Syndrome–A Management Dilemma
DOI: 10.1016/j.hlc.2021.06.3492020
Journal article
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygousASNSsplicing variant in a critically ill neonate
DOI: 10.1002/humu.241012020
Journal article
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children with Suspected Monogenic Conditions in the Australian Public Health Care System
DOI: 10.1001/jama.2020.7671
RECENT SCHOLARLY WORKS
2020
Journal article
Aspergillus infections and progression of structural lung disease in children with cystic fibrosis
DOI: 10.1164/rccm.201908-1585OC2020
Journal article
Rapid exome sequencing and adjunct rna studies confirm pathogenicity of a novel homozygous asns splicing variant in a critically ill neonate
DOI: 10.1016/j.pathol.2020.01.3632019
Journal article
Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing
DOI: 10.1038/s41431-019-0477-3