Publications by authors named "Scott Grist"

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HAT-PCR Enables Sensitive Quantification of Minimal Residual Disease in Chronic Lymphocytic Leukemia and Myeloma.
Elizabeth Hughes, Sue Latham, Bryone Kuss, Scott Grist, Rachel Hall

Int J Mol Sci· August 2025

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Identification of two novel transcobalamin 2 variants associated with developmental delay and megaloblastic anaemia in infancy.
Jonathan Lim, Rachel Hall, Scott Grist, David M Ross

Pathology· December 2022

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Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Melissa C Southey, James G Dowty, Moeen Riaz, Jason A Steen, Anne-Laure Renault, Scott Grist

NPJ Breast Cancer· December 2021

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Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia.
Marcus Brecht, Malcolm Richardson, Ajay Taranath, Scott Grist, David Thorburn

JIMD Rep· July 2015

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Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry.
Emmanuelle Souzeau, Kathryn P Burdon, Andrew Dubowsky, Scott Grist, Bronwyn Usher

Ophthalmology· June 2013

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Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.
Marcelo Carvalho, Maria A Pino, Rachel Karchin, Jennifer Beddor, Martha Godinho-Netto, Scott A Grist

Mutat Res· January 2009

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Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.
Marc Tischkowitz, Nancy Hamel, Marcelo A Carvalho, Gabriel Birrane, Aditi Soni, Scott A Grist

Eur J Hum Genet· July 2008

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Evaluating DNA sequence variants of unknown biological significance.
Scott A Grist, Andrew Dubowsky, Graeme Suthers

Methods Mol Med· June 2008

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Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer.
Celia S Chen, Kerry D Phillips, Scott Grist, Graeme Bennet, Jamie E Craig

Fam Cancer· September 2007

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Functional characterization of human MutY homolog (hMYH) missense mutation (R231L) that is linked with hMYH-associated polyposis.
Haibo Bai, Scott Grist, Justin Gardner, Graeme Suthers, Teresa M Wilson

Cancer Lett· May 2007

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Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.
Marcelo A Carvalho, Sylvia M Marsillac, Rachel Karchin, Siranoush Manoukian, Scott Grist

Cancer Res· February 2007

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Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling.
Nic Waddell, Jyoti Jonnalagadda, Anna Marsh, Scott Grist, Mark Jenkins

Genes Chromosomes Cancer· December 2006

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