Lista de obras - Simone M Rowley - Dominio Público Uruguay

A simple consensus approach improves somatic mutation prediction accuracy

artículo científico publicado en 2013

Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer

artículo científico publicado en 2013

Copy number analysis by low coverage whole genome sequencing using ultra low-input DNA from formalin-fixed paraffin embedded tumor tissue.

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia.

artículo científico publicado en 2011

Erratum to: Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors

artículo científico publicado en 2017

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

artículo científico publicado en 2018

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes

scientific article published on 02 April 2020

FXN methylation predicts expression and clinical outcome in Friedreich ataxia.

artículo científico publicado en 2012

Long range regulation of human FXN gene expression

artículo científico publicado en 2011

Loss of heterozygosity: what is it good for?

artículo científico publicado en 2015

MicroRNA genes and their target 3'-untranslated regions are infrequently somatically mutated in ovarian cancers

artículo científico publicado en 2012

Molecular analysis of PALB2 associated breast cancers.

artículo científico publicado en 2018

Molecular profiling of low grade serous ovarian tumours identifies novel candidate driver genes

artículo científico publicado en 2015

Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors

artículo científico publicado en 2015

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

scientific article published on 01 October 2018

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

Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

artículo científico publicado en 2016

Pre-invasive ovarian mucinous tumors are characterized by CDKN2A and RAS pathway aberrations

artículo científico publicado en 2012

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

artículo científico publicado en 2015

RNF43 is a tumour suppressor gene mutated in mucinous tumours of the ovary

artículo científico publicado en 2013

Reevaluation of RINT1 as a breast cancer predisposition gene

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Refined cut-off for TP53 immunohistochemistry improves prediction of TP53 mutation status in ovarian mucinous tumors: implications for outcome analyses

artículo científico publicado en 2020

Searching for candidate genes in familial BRCAX mutation carriers with prostate cancer.

artículo científico publicado en 2015

The molecular origin and taxonomy of mucinous ovarian carcinoma

scientific article published on 02 September 2019

Wolbachia pipientis in Australian spiders.

artículo científico publicado en 2004

Lista de obras de Simone M Rowley

A simple consensus approach improves somatic mutation prediction accuracy

Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer

Copy number analysis by low coverage whole genome sequencing using ultra low-input DNA from formalin-fixed paraffin embedded tumor tissue.

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

Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia.

Erratum to: Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors

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

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes

FXN methylation predicts expression and clinical outcome in Friedreich ataxia.

Long range regulation of human FXN gene expression

Loss of heterozygosity: what is it good for?

MicroRNA genes and their target 3'-untranslated regions are infrequently somatically mutated in ovarian cancers

Molecular analysis of PALB2 associated breast cancers.

Molecular profiling of low grade serous ovarian tumours identifies novel candidate driver genes

Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors

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

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

Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

Pre-invasive ovarian mucinous tumors are characterized by CDKN2A and RAS pathway aberrations

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

RNF43 is a tumour suppressor gene mutated in mucinous tumours of the ovary

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

Refined cut-off for TP53 immunohistochemistry improves prediction of TP53 mutation status in ovarian mucinous tumors: implications for outcome analyses

Searching for candidate genes in familial BRCAX mutation carriers with prostate cancer.

The molecular origin and taxonomy of mucinous ovarian carcinoma

Wolbachia pipientis in Australian spiders.