Cliff J. Meldrum

Lookout Road
Newcastle, NSW 2305, Australia

Last Updated: 09/26/2026

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Found 20 publications

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

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

Published: June 30, 2023

Correction: When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans.

Correction: When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans.

Journal: Hereditary cancer in clinical practice

Published: May 31, 2022

A Pathway to Precision Medicine for Aboriginal Australians: A Study Protocol.

A Pathway to Precision Medicine for Aboriginal Australians: A Study Protocol.

Journal: Methods and protocols

Published: May 22, 2021

Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.

Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.

Journal: American journal of human genetics

Published: August 09, 2020

Blood-based detection of RAS mutations to guide anti-EGFR therapy in colorectal cancer patients: concordance of results from circulating tumor DNA and tissue-based RAS testing.

Blood-based detection of RAS mutations to guide anti-EGFR therapy in colorectal cancer patients: concordance of results from circulating tumor DNA and tissue-based RAS testing.

Journal: Molecular oncology

Published: August 12, 2016

Somatic-gonadal mosaicism causing Sotos syndrome.

Somatic-gonadal mosaicism causing Sotos syndrome.

Journal: American journal of medical genetics. Part A

Published: March 10, 2016

When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans.

When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans.

Journal: Hereditary cancer in clinical practice

Published: August 06, 2015

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

Journal: Human mutation

Published: July 08, 2015

Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.

Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.

Journal: European journal of medical genetics

Published: June 25, 2015

Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.

Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.

Journal: Breast cancer research and treatment

Published: January 28, 2015

AmpliVar: mutation detection in high-throughput sequence from amplicon-based libraries.

AmpliVar: mutation detection in high-throughput sequence from amplicon-based libraries.

Journal: Human mutation

Published: August 07, 2014

Quality standards for DNA sequence variation databases to improve clinical management under development in Australia.

Quality standards for DNA sequence variation databases to improve clinical management under development in Australia.

Journal: Applied & translational genomics

Published: April 16, 2014

Showing 1-12 of 20

Last Updated: 09/26/2026