Elizabeth C. Chao

Medical Genetics

101 The City Drive South
Building 23
Orange, CA 92868

Last Updated: 09/26/2026

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Found 73 publications

Cost-effectiveness of BRCA1/BRCA2 Variant Reclassification and Recontact for Hereditary Breast and Ovarian Cancer in the United States.

Cost-effectiveness of BRCA1/BRCA2 Variant Reclassification and Recontact for Hereditary Breast and Ovarian Cancer in the United States.

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

Published: December 09, 2025

Solving Missing Heritability in Patients With Familial Adenomatous Polyposis With DNA-RNA Paired Testing.

Solving Missing Heritability in Patients With Familial Adenomatous Polyposis With DNA-RNA Paired Testing.

Journal: JCO precision oncology

Published: April 02, 2024

Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing.

Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing.

Journal: NPJ precision oncology

Published: March 12, 2024

Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.

Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.

Journal: Human mutation

Published: December 12, 2023

Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing.

Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing.

Journal: JAMA oncology

Published: November 04, 2023

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.

Journal: Nature communications

Published: August 30, 2023

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.

Journal: medRxiv : the preprint server for health sciences

Published: August 23, 2023

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.

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

Published: April 24, 2023

Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.

Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.

Journal: Cancer research

Published: July 21, 2022

Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer.

Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer.

Journal: NPJ genomic medicine

Published: January 06, 2022

Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast.

Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast.

Journal: Journal of clinical oncology : official journal of the American Society of Clinical Oncology

Published: October 21, 2021

Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data.

Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data.

Journal: Cold Spring Harbor molecular case studies

Published: September 03, 2021

Showing 1-12 of 73

Last Updated: 09/26/2026