Mary-louise Freckmann

High Street
Randwick, NSW 2031, Australia

Last Updated: 09/26/2026

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Found 20 publications

Cardiomyopathy and Sudden Cardiac Death as a Rare Presentation of Mucolipidosis Type III in a Family With Compound Heterozygous Variants in GNPTAB.

Cardiomyopathy and Sudden Cardiac Death as a Rare Presentation of Mucolipidosis Type III in a Family With Compound Heterozygous Variants in GNPTAB.

Journal: Circulation. Genomic and precision medicine

Published: June 02, 2026

Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.

Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.

Journal: Genome medicine

Published: September 18, 2024

Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.

Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.

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

Published: April 17, 2024

Integrated multi-omics for rapid rare disease diagnosis on a national scale.

Integrated multi-omics for rapid rare disease diagnosis on a national scale.

Journal: Nature medicine

Published: December 15, 2022

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.

Journal: European journal of human genetics : EJHG

Published: October 08, 2021

Paediatric genomic testing: Navigating genomic reports for the general paediatrician.

Paediatric genomic testing: Navigating genomic reports for the general paediatrician.

Journal: Journal of paediatrics and child health

Published: August 03, 2021

Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability.

Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability.

Journal: Cell reports. Medicine

Published: May 15, 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

Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.

Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.

Journal: Med (New York, N.Y.)

Published: February 12, 2021

Paediatric genomic testing: Navigating medicare rebatable genomic testing.

Paediatric genomic testing: Navigating medicare rebatable genomic testing.

Journal: Journal of paediatrics and child health

Published: January 20, 2021

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

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

Published: February 13, 2020

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

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

Published: August 23, 2019

Showing 1-12 of 20

Last Updated: 09/26/2026