List of works - Andrew Menzies

A comprehensive catalogue of somatic mutations from a human cancer genome

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

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

scientific article

Architectures of somatic genomic rearrangement in human cancer amplicons at sequence-level resolution

scientific article

COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer

scientific article

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

scientific article

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

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

scientific article published in Nature

Data mining using the Catalogue of Somatic Mutations in Cancer BioMart

scientific article

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

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

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

scientific article

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

scientific article

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

scientific article

Massive genomic rearrangement acquired in a single catastrophic event during cancer development

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

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

Mutations of the BRAF gene in human cancer

scientific article (publication date: 27 June 2002)

Polygenic in vivo validation of cancer mutations using transposons

scientific article

Processed pseudogenes acquired somatically during cancer development

scientific article published on 09 April 2014

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

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

Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin

scientific article

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

List of works by Andrew Menzies

A comprehensive catalogue of somatic mutations from a human cancer genome

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

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

Architectures of somatic genomic rearrangement in human cancer amplicons at sequence-level resolution

COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

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

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

Data mining using the Catalogue of Somatic Mutations in Cancer BioMart

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

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

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

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

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

Massive genomic rearrangement acquired in a single catastrophic event during cancer development

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

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

Mutations of the BRAF gene in human cancer

Polygenic in vivo validation of cancer mutations using transposons

Processed pseudogenes acquired somatically during cancer development

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

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

Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin

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