Justine E. Marum

50 Flemington Road
Parkville, VIC, Australia

Last Updated: 09/26/2026

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Found 19 publications

Laboratory Considerations for Reproductive Genetic Carrier Screening: Experiences from Mackenzie's Mission.

Laboratory Considerations for Reproductive Genetic Carrier Screening: Experiences from Mackenzie's Mission.

Journal: The Journal of molecular diagnostics : JMD

Published: October 13, 2025

Nationwide, Couple-Based Genetic Carrier Screening.

Nationwide, Couple-Based Genetic Carrier Screening.

Journal: The New England journal of medicine

Published: November 20, 2024

The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.

The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.

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

Published: April 04, 2024

Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol.

Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol.

Journal: BMJ open

Published: June 03, 2023

Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.

Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.

Journal: Brain communications

Published: May 29, 2023

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.

Journal: Journal of personalized medicine

Published: September 16, 2022

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.

Journal: Developmental medicine and child neurology

Published: December 21, 2021

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

Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature.

Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature.

Journal: JIMD reports

Published: May 27, 2020

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.

Journal: Molecular genetics & genomic medicine

Published: April 30, 2020

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis.

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis.

Journal: European journal of human genetics : EJHG

Published: January 05, 2019

Showing 1-12 of 19

Last Updated: 09/26/2026