Lista de obras -

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2005

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

A survey of homozygous deletions in human cancer genomes

artículo científico publicado en 2005

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

artículo científico publicado en 2014

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

artículo científico publicado en 2020

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

artículo científico publicado en 2019

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

artículo científico publicado en 2019

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

artículo científico publicado en 2007

BRAF and RAS mutations in human lung cancer and melanoma

artículo científico publicado en 2002

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2006

Holistic cancer genome profiling for every patient

artículo científico publicado en 2020

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

Lung cancer: intragenic ERBB2 kinase mutations in tumours

artículo científico publicado en 2004

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

artículo científico publicado en 2014

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

artículo científico publicado en 2006

Mutational processes molding the genomes of 21 breast cancers

artículo científico publicado en 2012

Mutational signatures of ionizing radiation in second malignancies

artículo científico publicado en 2016

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

artículo científico publicado en 2004

Mutations of the BRAF gene in human cancer

artículo científico publicado en 2002

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

artículo científico publicado en 2014

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

article

Patterns of somatic mutation in human cancer genomes

artículo científico publicado en 2007

Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution

artículo científico publicado en 2017

Processed pseudogenes acquired somatically during cancer development

artículo científico publicado en 2014

Recurrent KRAS codon 146 mutations in human colorectal cancer

artículo científico publicado en 2006

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

artículo científico publicado en 2017

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

artículo científico publicado en 2006

Short inverted repeats contribute to localized mutability in human somatic cells

artículo científico publicado en 2017

Signatures of mutation and selection in the cancer genome

artículo científico publicado en 2010

Signatures of mutational processes in human cancer

artículo científico publicado en 2013

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

artículo científico publicado en 2002

Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2005

Somatic mutations reveal asymmetric cellular dynamics in the early human embryo

artículo científico publicado en 2017

Subclonal diversification of primary breast cancer revealed by multiregion sequencing

artículo científico publicado en 2015

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

artículo científico publicado en 2010

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

artículo científico publicado en 2012

The life history of 21 breast cancers

artículo científico publicado en 2012

The topography of mutational processes in breast cancer genomes

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Tracking the Evolution of Non-Small-Cell Lung Cancer

artículo científico publicado en 2017

Universal Patterns Of Selection In Cancer And Somatic Tissues

Universal Patterns of Selection in Cancer and Somatic Tissues

artículo científico publicado en 2017

Universal Patterns of Selection in Cancer and Somatic Tissues.

artículo científico publicado en 2018

VAGrENT: Variation Annotation Generator

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Lista de obras de

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