Lauren S. Akesson

Parkville, VIC, Australia

Last Updated: 09/26/2026

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Found 10 publications

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 30, 2023

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

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

Journal: JIMD reports

Published: November 05, 2021

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

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

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 24, 2021

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

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

Journal: JAMA

Published: June 24, 2020

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

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

Journal: Journal of paediatrics and child health

Published: May 25, 2020

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

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

Journal: Human mutation

Published: November 23, 2019

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

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

Journal: American journal of respiratory and critical care medicine

Published: November 21, 2019

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

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

Journal: European journal of human genetics : EJHG

Published: March 16, 2019

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

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

Journal: The European respiratory journal

Published: February 02, 2018

Lipoprotein lipase deficiency presenting with neonatal perianal abscesses.

Lipoprotein lipase deficiency presenting with neonatal perianal abscesses.

Journal: BMJ case reports

Published: January 31, 2016

Showing 1-10 of 10

Last Updated: 09/26/2026