Belinda W. Chong

Parkville, VIC, Australia

Last Updated: 09/26/2026

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Found 30 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

Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomes.

Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomes.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 23, 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

The cost of proband and trio exome and genome analysis in rare disease: A micro-costing study.

The cost of proband and trio exome and genome analysis in rare disease: A micro-costing study.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 12, 2023

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

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

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.

Journal: American journal of human genetics
Published: June 15, 2022

Ethylmalonic encephalopathy masquerading as meningococcemia.

Ethylmalonic encephalopathy masquerading as meningococcemia.

Journal: Cold Spring Harbor molecular case studies
Published: January 14, 2022

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

Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy.

Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 17, 2020

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.

Journal: Journal of the neurological sciences
Published: September 01, 2020
Showing 1-12 of 30

Last Updated: 09/26/2026