Emma Tudini

Brisbane, QLD, Australia

Last Updated: 09/26/2026

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Found 23 publications

Survey of diagnostic laboratories highlights need for improved standards in somatic genomic testing and reporting.

Survey of diagnostic laboratories highlights need for improved standards in somatic genomic testing and reporting.

Journal: European journal of human genetics : EJHG

Published: July 04, 2025

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

Journal: medRxiv : the preprint server for health sciences

Published: June 26, 2025

BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

Journal: American journal of human genetics

Published: May 15, 2025

Consultation informs strategies for improving the use of functional evidence in variant classification.

Consultation informs strategies for improving the use of functional evidence in variant classification.

Journal: American journal of human genetics

Published: January 13, 2025

Consultation informs strategies to improve functional evidence use in variant classification.

Consultation informs strategies to improve functional evidence use in variant classification.

Journal: medRxiv : the preprint server for health sciences

Published: December 16, 2024

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.

Journal: American journal of human genetics

Published: January 19, 2024

Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services.

Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services.

Journal: European journal of human genetics : EJHG

Published: December 08, 2023

Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.

Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.

Journal: Breast cancer research : BCR

Published: June 27, 2023

Correspondence on "Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)" by Riggs et al.

Correspondence on "Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)" by Riggs et al.

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

Published: February 23, 2023

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.

Journal: American journal of human genetics

Published: November 20, 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

Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices.

Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices.

Journal: Journal of medical genetics

Published: July 05, 2022

Showing 1-12 of 23

Last Updated: 09/26/2026