List of works - Ella Thompson

A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability

scientific article published on 03 June 2020

Analysis of KLLN as a high-penetrance breast cancer predisposition gene

scientific article published on 13 May 2012

BRCA and beyond: a genome-first approach to familial breast cancer risk assessment

scientific article published on November 1, 2011

CONTRA: copy number analysis for targeted resequencing

scientific article

Copy number analysis of ductal carcinoma in situ with and without recurrence

scientific article

Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs

scientific article published on 9 January 2018

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

scientific article

High-resolution single nucleotide polymorphism array analysis of epithelial ovarian cancer reveals numerous microdeletions and amplifications

scientific article published in August 2007

Identification of copy number alterations associated with the progression of DCIS to invasive ductal carcinoma

scientific article published on 04 November 2011

Mutations in RECQL are not associated with breast cancer risk in an Australian population

scientific article published on 01 October 2018

No evidence of clonal somatic genetic alterations in cancer-associated fibroblasts from human breast and ovarian carcinomas

scientific article published on 13 April 2008

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

scientific article published on 26 February 2016

Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls

scientific article

Rare variants in XRCC2 as breast cancer susceptibility alleles

scientific article published on October 2012

Reevaluation of RINT1 as a breast cancer predisposition gene

scientific article

Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context

scientific article

List of works by Ella Thompson

A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability

Analysis of KLLN as a high-penetrance breast cancer predisposition gene

BRCA and beyond: a genome-first approach to familial breast cancer risk assessment

CONTRA: copy number analysis for targeted resequencing

Copy number analysis of ductal carcinoma in situ with and without recurrence

Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

High-resolution single nucleotide polymorphism array analysis of epithelial ovarian cancer reveals numerous microdeletions and amplifications

Identification of copy number alterations associated with the progression of DCIS to invasive ductal carcinoma

Mutations in RECQL are not associated with breast cancer risk in an Australian population

No evidence of clonal somatic genetic alterations in cancer-associated fibroblasts from human breast and ovarian carcinomas

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls

Rare variants in XRCC2 as breast cancer susceptibility alleles

Reevaluation of RINT1 as a breast cancer predisposition gene

Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context