List of works - David R. Jones

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

scientific article

A comprehensive multicenter comparison of whole genome sequencing pipelines using a uniform tumor-normal sample pair

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

scientific article

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 systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

scientific article

Aging as accelerated accumulation of somatic variants: whole-genome sequencing of centenarian and middle-aged monozygotic twin pairs

scientific article

Analysis of the genetic phylogeny of multifocal prostate cancer identifies multiple independent clonal expansions in neoplastic and morphologically normal prostate tissue

scientific article

Appraising the relevance of DNA copy number loss and gain in prostate cancer using whole genome DNA sequence data

scientific article published on 25 September 2017

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

scientific article published on 01 February 2019

Characterizing Mutational Signatures in Human Cancer Cell Lines Reveals Episodic APOBEC Mutagenesis

Clonal haematopoiesis is not prevalent in survivors of childhood cancer.

scientific article published on 3 April 2017

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

scientific article published in Nature

Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer

scientific article published on 03 August 2016

Erratum: Corrigendum: Analysis of the genetic phylogeny of multifocal prostate cancer identifies multiple independent clonal expansions in neoplastic and morphologically normal prostate tissue

scholarly article by Colin S Cooper et al published June 2015 in Nature Genetics

Estimation of rearrangement phylogeny for cancer genomes

scientific article

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

scientific article

Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma

scientific article published on 16 June 2013

Genomic Classification and Prognosis in Acute Myeloid Leukemia

scientific article

Genomic Evolution of Breast Cancer Metastasis and Relapse

scientific article published on August 2017

Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing

scientific article (publication date: 8 March 2012)

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

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 CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

scientific article

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

scientific article

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

scientific article

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly

scientific article

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

scientific article

Polygenic in vivo validation of cancer mutations using transposons

scientific article

Prediction of acute myeloid leukaemia risk in healthy individuals

scientific article published in Nature

RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia

scientific article

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

scientific article

Sequencing of prostate cancers identifies new cancer genes, routes of progression and drug targets

scientific article published on 16 April 2018

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

Spatial and temporal diversity in genomic instability processes defines lung cancer evolution

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 genetic heterogeneity and mutational burden of engineered melanomas in zebrafish models

scientific article published on January 2013

Whole exome sequencing of adenoid cystic carcinoma

scientific article published on 17 June 2013

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

scientific article

ascatNgs: Identifying Somatically Acquired Copy-Number Alterations from Whole-Genome Sequencing Data

scientific article

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

scientific article

List of works by David R. Jones

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

A comprehensive multicenter comparison of whole genome sequencing pipelines using a uniform tumor-normal sample pair

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

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 systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Aging as accelerated accumulation of somatic variants: whole-genome sequencing of centenarian and middle-aged monozygotic twin pairs

Analysis of the genetic phylogeny of multifocal prostate cancer identifies multiple independent clonal expansions in neoplastic and morphologically normal prostate tissue

Appraising the relevance of DNA copy number loss and gain in prostate cancer using whole genome DNA sequence data

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

Characterizing Mutational Signatures in Human Cancer Cell Lines Reveals Episodic APOBEC Mutagenesis

Clonal haematopoiesis is not prevalent in survivors of childhood cancer.

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

Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer

Erratum: Corrigendum: Analysis of the genetic phylogeny of multifocal prostate cancer identifies multiple independent clonal expansions in neoplastic and morphologically normal prostate tissue

Estimation of rearrangement phylogeny for cancer genomes

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

Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma

Genomic Classification and Prognosis in Acute Myeloid Leukemia

Genomic Evolution of Breast Cancer Metastasis and Relapse

Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing

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

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 CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

Polygenic in vivo validation of cancer mutations using transposons

Prediction of acute myeloid leukaemia risk in healthy individuals

RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia

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

Sequencing of prostate cancers identifies new cancer genes, routes of progression and drug targets

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

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

Spatial and temporal diversity in genomic instability processes defines lung cancer evolution

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 genetic heterogeneity and mutational burden of engineered melanomas in zebrafish models

Whole exome sequencing of adenoid cystic carcinoma

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

ascatNgs: Identifying Somatically Acquired Copy-Number Alterations from Whole-Genome Sequencing Data

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