List of works - Patrick S. Tarpey

A common single-nucleotide variant in T is strongly associated with chordoma

scientific article

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 novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.

scientific article

A pathogenic mosaic TP53 mutation in two germ layers detected by next generation sequencing

scientific article

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

scientific article

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.

scientific article

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

scientific article

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

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

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

scientific article

Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders

scientific article

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

scientific article

Fibroblastic growth factor receptor 1 amplification in osteosarcoma is associated with poor response to neo-adjuvant chemotherapy.

scientific article

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability

scientific article

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

scientific article published on 11 May 2015

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

scientific article

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

scientific article

Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing

scientific article (publication date: 8 March 2012)

Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism

scientific article

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

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 FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

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 ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

scholarly article

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

scientific article

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

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 in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

scientific article

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

scientific article

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

scientific article

Recurrent PTPRB and PLCG1 mutations in angiosarcoma

scientific article

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

scientific article

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes

scientific article

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

scientific article

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

scientific article published on 24 January 2008

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

scientific article

The Life History of 21 Breast Cancers

The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus

scientific article

The genetics of mental retardation

scientific article published on October 2006

The landscape of cancer genes and mutational processes in breast cancer

scientific article (publication date: 16 May 2012)

Timing the Landmark Events in the Evolution of Clear Cell Renal Cell Cancer: TRACERx Renal

scientific article published on 4 April 2018

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

scientific article

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.

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 Patrick S. Tarpey

A common single-nucleotide variant in T is strongly associated with chordoma

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 novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.

A pathogenic mosaic TP53 mutation in two germ layers detected by next generation sequencing

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

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer

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

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders

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

Fibroblastic growth factor receptor 1 amplification in osteosarcoma is associated with poor response to neo-adjuvant chemotherapy.

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability

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

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing

Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism

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

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 FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

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 ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

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

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

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

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

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

Recurrent PTPRB and PLCG1 mutations in angiosarcoma

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

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes

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

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

The Life History of 21 Breast Cancers

The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus

The genetics of mental retardation

The landscape of cancer genes and mutational processes in breast cancer

Timing the Landmark Events in the Evolution of Clear Cell Renal Cell Cancer: TRACERx Renal

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

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.

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