List of works - Helen Davies

A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy

scientific article

A practical framework and online tool for mutational signature analyses show inter-tissue variation and driver dependencies

scientific article published on 17 February 2020

A practical guide for mutational signature analysis in hematological malignancies

scientific article published on 05 July 2019

A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer

scientific article published on 22 May 2005

A small-cell lung cancer genome with complex signatures of tobacco exposure

scientific article

A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers

scientific article published on 23 January 2017

A survey of homozygous deletions in human cancer genomes

scientific article

Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer

scientific article

Author Correction: A practical framework and online tool for mutational signature analyses show intertissue variation and driver dependencies

correction of a scholarly article

Author Correction: A practical guide for mutational signature analysis in hematological malignancies

scientific article published on 25 July 2019

Author Correction: Landscape of somatic mutations in 560 breast cancer whole-genome sequences

scientific article published on 01 February 2019

AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes

scientific article published on 7 May 2007

BRAF and RAS mutations in human lung cancer and melanoma

scientific article published on 01 December 2002

Breast cancer genome and transcriptome integration implicates specific mutational signatures with immune cell infiltration

scientific article published on 26 September 2016

Corrigendum: A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers

scientific article published in October 2017

Corrigendum: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

scientific article published in Nature

Corrigendum: Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells

scientific article published on May 2016

Corrigendum: Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution

scientific article published in Nature

DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

scientific article

Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer

scientific article published on 03 August 2016

Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone

scientific article

Dramatic response of metastatic cutaneous angiosarcoma to an immune checkpoint inhibitor in a patient with xeroderma pigmentosum: whole-genome sequencing aids treatment decision in end-stage disease

scientific article published on 23 October 2019

Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome

scientific article published on 17 October 2019

Erratum: Corrigendum: Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone

scholarly article published in Nature Genetics

Erratum: Corrigendum: Signatures of mutational processes in human cancer

scientific article published in Nature

Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

scientific article

Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes

scientific article

Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma

scientific article published on 16 June 2013

Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells

scientific article published on 11 May 2015

Genomic analysis defines clonal relationships of ductal carcinoma in situ and recurrent invasive breast cancer

scientific article published on 09 June 2022

Genomic patterns of progression in smoldering multiple myeloma

scientific article published in Nature Communications

HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures

scientific article published on 13 March 2017

High throughput DNA sequence variant detection by conformation sensitive capillary electrophoresis and automated peak comparison

scientific article

Holistic cancer genome profiling for every patient

scientific article published on 27 January 2020

LKB1/KRAS mutant lung cancers constitute a genetic subset of NSCLC with increased sensitivity to MAPK and mTOR signalling inhibition

scientific article published in January 2009

Landscape of somatic mutations in 560 breast cancer whole-genome sequences

scientific article

Lung cancer: intragenic ERBB2 kinase mutations in tumours

scientific article

Mobile DNA in cancer. Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes

scientific article

Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

scientific article

Mutational processes molding the genomes of 21 breast cancers

scientific article

Mutational signatures of ionizing radiation in second malignancies

scientific article

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

scientific article

Mutations of the BRAF gene in human cancer

scientific article (publication date: 27 June 2002)

Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer

scientific article

Partially methylated domains are hypervariable in breast cancer and fuel widespread CpG island hypermethylation

article

Patterns of somatic mutation in human cancer genomes

scientific article (publication date: 8 March 2007)

Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution

scientific article

Processed pseudogenes acquired somatically during cancer development

scientific article published on 09 April 2014

Recurrent KRAS codon 146 mutations in human colorectal cancer

scientific article published on August 2006

Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma

scientific article

Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults

scientific article

Short inverted repeats contribute to localized mutability in human somatic cells

scientific article published on 22 August 2017

Signatures of mutation and selection in the cancer genome

scientific article

Signatures of mutational processes in human cancer

scientific article (publication date: 22 August 2013)

Similarity of the phenotypic patterns associated with BRAF and KRAS mutations in colorectal neoplasia.

scientific article

Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts

scientific article

Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer

scientific article

Somatic mutations of the protein kinase gene family in human lung cancer

scientific article published on September 2005

Somatic mutations reveal asymmetric cellular dynamics in the early human embryo

scientific article

Subclonal diversification of primary breast cancer revealed by multiregion sequencing

scientific article published on 22 June 2015

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

scientific article

The Life History of 21 Breast Cancers

The circular RNome of primary breast cancer

scientific article published on 28 January 2019

The landscape of cancer genes and mutational processes in breast cancer

scientific article (publication date: 16 May 2012)

The life history of 21 breast cancers

scientific article (publication date: 25 May 2012)

The topography of mutational processes in breast cancer genomes

scientific article published on 02 May 2016

Tracking genomic cancer evolution for precision medicine: the lung TRACERx study

scientific article

Tracking the Evolution of Non-Small-Cell Lung Cancer

scientific article published on 26 April 2017

Universal Patterns Of Selection In Cancer And Somatic Tissues

Universal Patterns of Selection in Cancer and Somatic Tissues

scientific article published on 18 October 2017

Universal Patterns of Selection in Cancer and Somatic Tissues.

scientific article published in June 2018

VAGrENT: Variation Annotation Generator

scientific article published on 17 December 2015

Whole exome sequencing of adenoid cystic carcinoma

scientific article published on 17 June 2013

Whole-Genome Sequencing Reveals Breast Cancers with Mismatch Repair Deficiency

scientific article

Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study

scientific article published on 30 September 2019

cgpCaVEManWrapper: Simple Execution of CaVEMan in Order to Detect Somatic Single Nucleotide Variants in NGS Data

scientific article

cgpPindel: Identifying Somatically Acquired Insertion and Deletion Events from Paired End Sequencing

scientific article published on 17 December 2015

List of works by Helen Davies

A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy

A practical framework and online tool for mutational signature analyses show inter-tissue variation and driver dependencies

A practical guide for mutational signature analysis in hematological malignancies

A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer

A small-cell lung cancer genome with complex signatures of tobacco exposure

A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers

A survey of homozygous deletions in human cancer genomes

Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer

Author Correction: A practical framework and online tool for mutational signature analyses show intertissue variation and driver dependencies

Author Correction: A practical guide for mutational signature analysis in hematological malignancies

Author Correction: Landscape of somatic mutations in 560 breast cancer whole-genome sequences

AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes

BRAF and RAS mutations in human lung cancer and melanoma

Breast cancer genome and transcriptome integration implicates specific mutational signatures with immune cell infiltration

Corrigendum: A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers

Corrigendum: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

Corrigendum: Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells

Corrigendum: Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution

DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer

Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone

Dramatic response of metastatic cutaneous angiosarcoma to an immune checkpoint inhibitor in a patient with xeroderma pigmentosum: whole-genome sequencing aids treatment decision in end-stage disease

Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome

Erratum: Corrigendum: Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone

Erratum: Corrigendum: Signatures of mutational processes in human cancer

Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes

Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma

Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells

Genomic analysis defines clonal relationships of ductal carcinoma in situ and recurrent invasive breast cancer

Genomic patterns of progression in smoldering multiple myeloma

HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures

High throughput DNA sequence variant detection by conformation sensitive capillary electrophoresis and automated peak comparison

Holistic cancer genome profiling for every patient

LKB1/KRAS mutant lung cancers constitute a genetic subset of NSCLC with increased sensitivity to MAPK and mTOR signalling inhibition

Landscape of somatic mutations in 560 breast cancer whole-genome sequences

Lung cancer: intragenic ERBB2 kinase mutations in tumours

Mobile DNA in cancer. Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes

Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

Mutational processes molding the genomes of 21 breast cancers

Mutational signatures of ionizing radiation in second malignancies

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

Mutations of the BRAF gene in human cancer

Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer

Partially methylated domains are hypervariable in breast cancer and fuel widespread CpG island hypermethylation

Patterns of somatic mutation in human cancer genomes

Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution

Processed pseudogenes acquired somatically during cancer development

Recurrent KRAS codon 146 mutations in human colorectal cancer

Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma

Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults

Short inverted repeats contribute to localized mutability in human somatic cells

Signatures of mutation and selection in the cancer genome

Signatures of mutational processes in human cancer

Similarity of the phenotypic patterns associated with BRAF and KRAS mutations in colorectal neoplasia.

Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts

Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer

Somatic mutations of the protein kinase gene family in human lung cancer

Somatic mutations reveal asymmetric cellular dynamics in the early human embryo

Subclonal diversification of primary breast cancer revealed by multiregion sequencing

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

The Life History of 21 Breast Cancers

The circular RNome of primary breast cancer

The landscape of cancer genes and mutational processes in breast cancer

The life history of 21 breast cancers

The topography of mutational processes in breast cancer genomes

Tracking genomic cancer evolution for precision medicine: the lung TRACERx study

Tracking the Evolution of Non-Small-Cell Lung Cancer

Universal Patterns Of Selection In Cancer And Somatic Tissues

Universal Patterns of Selection in Cancer and Somatic Tissues

Universal Patterns of Selection in Cancer and Somatic Tissues.

VAGrENT: Variation Annotation Generator

Whole exome sequencing of adenoid cystic carcinoma

Whole-Genome Sequencing Reveals Breast Cancers with Mismatch Repair Deficiency

Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study

cgpCaVEManWrapper: Simple Execution of CaVEMan in Order to Detect Somatic Single Nucleotide Variants in NGS Data

cgpPindel: Identifying Somatically Acquired Insertion and Deletion Events from Paired End Sequencing