Rachel L. Austin

35 Stirling Highway
Perth, WA 6009, Australia

Last Updated: 09/26/2026

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Found 16 publications

Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses.

Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses.

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

Published: March 20, 2025

Titin-related familial dilated cardiomyopathy: factors associated with disease onset.

Titin-related familial dilated cardiomyopathy: factors associated with disease onset.

Journal: European heart journal

Published: September 18, 2024

A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.

A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.

Journal: Genetics in medicine open

Published: November 03, 2023

Comparative gene co-expression networks show enrichment of brassinosteroid and vitamin B processes in a seagrass under simulated ocean warming and extreme climatic events.

Comparative gene co-expression networks show enrichment of brassinosteroid and vitamin B processes in a seagrass under simulated ocean warming and extreme climatic events.

Journal: Frontiers in plant science

Published: October 09, 2023

DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands.

DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands.

Journal: Cancers

Published: September 06, 2023

A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.

A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.

Journal: medRxiv : the preprint server for health sciences

Published: March 13, 2023

A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.

A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.

Journal: Journal of translational medicine

Published: February 09, 2023

Marine heatwave and reduced light scenarios cause species-specific metabolomic changes in seagrasses under ocean warming.

Marine heatwave and reduced light scenarios cause species-specific metabolomic changes in seagrasses under ocean warming.

Journal: The New phytologist

Published: December 08, 2022

Exploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualitative study.

Exploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualitative study.

Journal: Journal of community genetics

Published: November 18, 2022

SMARCA4-associated schwannomatosis.

SMARCA4-associated schwannomatosis.

Journal: Acta neuropathologica

Published: October 05, 2022

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.

Journal: Genome medicine

Published: October 04, 2022

Stakeholder attitudes towards establishing a national genomics registry of inherited cancer predisposition: a qualitative study.

Stakeholder attitudes towards establishing a national genomics registry of inherited cancer predisposition: a qualitative study.

Journal: Journal of community genetics

Published: August 23, 2021

Showing 1-12 of 16

Last Updated: 09/26/2026