Publications by authors named "Cliff Meldrum"

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Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Kerith-Rae Dias, Rupendra Shrestha, Deborah Schofield, Carey-Anne Evans, Emily O'Heir, Cliff Meldrum

Genet Med· May 2024

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Making good on the promise of genomics in healthcare: the NSW Health perspective.
Deb Willcox, Ronald J A Trent, Nigel Lyons, Cliff Meldrum, Peter Kennedy

Aust Health Rev· December 2023

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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.
Michelle Wong-Brown, Mary McPhillips, Margaret Gleeson, Allan D Spigelman, Cliff J Meldrum

Hered Cancer Clin Pract· May 2022

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A Pathway to Precision Medicine for Aboriginal Australians: A Study Protocol.
Yeu-Yao Cheng, Jack Nunn, John Skinner, Boe Rambaldini, Tiffany Boughtwood, Cliff Meldrum

Methods Protoc· June 2021

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Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.
Simon Easteal, Ruth M Arkell, Renzo F Balboa, Shayne A Bellingham, Alex D Brown, Cliff J Meldrum

Am J Hum Genet· August 2020

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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.
Wolff Schmiegel, Rodney J Scott, Susan Dooley, Wendy Lewis, Cliff J Meldrum

Mol Oncol· February 2017

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Somatic-gonadal mosaicism causing Sotos syndrome.
Benjamin Kamien, Tessa Dadd, Melissa Buckman, Anne Ronan, Tracy Dudding, Cliff Meldrum

Am J Med Genet A· December 2016

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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Lijia Huang, Megan R Vanstone, Taila Hartley, Matthew Osmond, Nick Barrowman, Cliff Meldrum

Hum Mutat· February 2016

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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.
Michelle Wong-Brown, Mary McPhillips, Margaret Gleeson, Allan D Spigelman, Cliff J Meldrum

Hered Cancer Clin Pract· February 2016

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Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.
Benjamin Kamien, M Cristina Digilio, Antonio Novelli, Sheridan O'Donnell, Nicole Bain, Cliff Meldrum

Eur J Med Genet· November 2015

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Congenital late onset thrombotic thrombocytopenic purpura: a diagnostic challenge.
Anoop K Enjeti, Kent Chapman, Peter J Taylor, Cliff Meldrum

Pathology· October 2015

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AmpliVar: mutation detection in high-throughput sequence from amplicon-based libraries.
Arthur L Hsu, Olga Kondrashova, Sebastian Lunke, Clare J Love, Cliff Meldrum

Hum Mutat· April 2015

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Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.
Michelle W Wong-Brown, Cliff J Meldrum, Jane E Carpenter, Christine L Clarke, Steven A Narod

Breast Cancer Res Treat· February 2015

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Clinicopathological and molecular aspects of foregut gastrointestinal stromal tumours.
Jason Chen, Justin S Gundara, Richard Haddad, Vivienne Schiavone, Cliff Meldrum

ANZ J Surg· September 2014

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An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.
Anupam Rao, Sheridan O'Donnell, Nicole Bain, Cliff Meldrum, Damon Shorter

Eur J Med Genet· February 2014

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The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients.
Bente A Talseth-Palmer, Juul T Wijnen, Eva K Andreassen, Daniel Barker, Shantie Jagmohan-Changur, Cliff Meldrum

Hered Cancer Clin Pract· December 2013

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Continuing difficulties in interpreting CNV data: lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients.
Bente A Talseth-Palmer, Elizabeth G Holliday, Tiffany-Jane Evans, Mark McEvoy, John Attia, Cliff Meldrum

BMC Med Genomics· March 2013

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Cell cycle-related genes as modifiers of age of onset of colorectal cancer in Lynch syndrome: a large-scale study in non-Hispanic white patients.
Jinyun Chen, Mala Pande, Yu-Jing Huang, Chongjuan Wei, Christopher I Amos, Cliff J Meldrum

Carcinogenesis· February 2013

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Multisite analytic performance studies of a real-time polymerase chain reaction assay for the detection of BRAF V600E mutations in formalin-fixed, paraffin-embedded tissue specimens of malignant melanoma.
Steven Anderson, Kenneth J Bloom, Dino U Vallera, Josef Rueschoff, Cliff Meldrum

Arch Pathol Lab Med· November 2012

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BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group.
Kathryn Alsop, Sian Fereday, Cliff Meldrum, Anna deFazio, Catherine Emmanuel

J Clin Oncol· July 2012

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DNA repair gene polymorphisms and risk of early onset colorectal cancer in Lynch syndrome.
Stuart G Reeves, Cliff Meldrum, Claire Groombridge, Allan Spigelman, Janina Suchy

Cancer Epidemiol· April 2012

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Next-generation sequencing for cancer diagnostics: a practical perspective.
Cliff Meldrum, Maria A Doyle, Richard W Tothill

Clin Biochem Rev· November 2011

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MTHFR 677 C>T and 1298 A>C polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer.
Stuart G Reeves, Cliff Meldrum, Claire Groombridge, Allan D Spigelman, Janina Suchy

Eur J Hum Genet· May 2009

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Gene symbol: STK11. Disease: Peutz-Jeghers Syndrome.
Rodney Scott, Renee Crooks, Cliff Meldrum

Hum Genet· October 2008

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Whole genome amplification and its impact on CGH array profiles.
Bente A Talseth-Palmer, Nikola A Bowden, Alyssa Hill, Cliff Meldrum, Rodney J Scott

BMC Res Notes· July 2008

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