Author details

Full Name

Patrick S Tarpey

Affiliation

Wellcome Trust Sanger Institute

ORCID

Career Start Year

1992

Papers

106

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36341503	Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD).	Neuropathol Appl Neurobiol	2023
38040915	Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.	Eur J Hum Genet	2023
37727849	Embryonal tumor with multilayered rosettes: Overview of diagnosis and therapy.	Neurooncol Adv	2023
36723852	Identification of an Activating PDGFRA Deletion in a Novel Sinonasal Soft Tissue Neoplasm.	Head Neck Pathol	2023
36426824	Recurrent FOSL1 rearrangements in desmoplastic fibroblastoma.	J Pathol	2023
34992252	Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.	Eur J Hum Genet	2022
36440187	The use of temozolomide in paediatric metastatic phaeochromocytoma/paraganglioma: A case report and literature review.	Front Endocrinol (Lausanne)	2022
33534137	A rare case of paediatric astroblastoma with concomitant MN1-GTSE1 and EWSR1-PATZ1 gene fusions altering management.	Neuropathol Appl Neurobiol	2021
32350471	The mutational landscape of normal human endometrial epithelium.	Nature	2020
30729724	Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.	Mol Genet Genomic Med	2019
31806814	Embryonal precursors of Wilms tumor.	Science	2019
29209044	Biological and prognostic impact of APOBEC-induced mutations in the spectrum of plasma cell dyscrasias and multiple myeloma cell lines.	Leukemia	2018
30166531	Circulating tumor DNA in patients with colorectal adenomas: assessment of detectability and genetic heterogeneity.	Cell Death Dis	2018
30135448	Genomic patterns of progression in smoldering multiple myeloma.	Nat Commun	2018
29858576	Recurrent rearrangements of FOS and FOSB define osteoblastoma.	Nat Commun	2018
30202034	An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.	Sci Rep	2018
30322867	Integrative Molecular Characterization of Malignant Pleural Mesothelioma.	Cancer Discov	2018
29656891	Timing the Landmark Events in the Evolution of Clear Cell Renal Cell Cancer: TRACERx Renal.	Cell	2018
28643781	Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma.	Nat Commun	2017
28179366	Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.	Genome Res	2017
29026114	The driver landscape of sporadic chordoma.	Nat Commun	2017
26834553	Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism.	Front Mol Neurosci	2016
26672768	Unscrambling the genomic chaos of osteosarcoma reveals extensive transcript fusion, recurrent rearrangements and frequent novel TP53 aberrations.	Oncotarget	2016
27615322	Mutational signatures of ionizing radiation in second malignancies.	Nat Commun	2016
27930809	ascatNgs: Identifying Somatically Acquired Copy-Number Alterations from Whole-Genome Sequencing Data.	Curr Protoc Bioinformatics	2016
27930805	cgpCaVEManWrapper: Simple Execution of CaVEMan in Order to Detect Somatic Single Nucleotide Variants in NGS Data.	Curr Protoc Bioinformatics	2016
27197245	Corrigendum: Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells.	Genome Res	2016
27498871	Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer.	Cell Rep	2016
27130160	HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.	BMJ Open	2016
25612912	A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.	J Med Genet	2015
26647970	A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.	Nat Commun	2015
26678382	cgpPindel: Identifying Somatically Acquired Insertion and Deletion Events from Paired End Sequencing.	Curr Protoc Bioinformatics	2015
26678383	VAGrENT: Variation Annotation Generator.	Curr Protoc Bioinformatics	2015
27499898	Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics.	J Pathol Clin Res	2015
26056227	ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.	Hum Mol Genet	2015
25963125	Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells.	Genome Res	2015
25642631	Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.	Nat Genet	2015
24633157	Recurrent PTPRB and PLCG1 mutations in angiosarcoma.	Nat Genet	2014
25271376	Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer.	Elife	2014
25043003	Genome sequencing of normal cells reveals developmental lineages and mutational processes.	Nature	2014
25082706	Mobile DNA in cancer. Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes.	Science	2014
24810334	A pathogenic mosaic TP53 mutation in two germ layers detected by next generation sequencing.	PLoS One	2014
24861215	Fibroblastic growth factor receptor 1 amplification in osteosarcoma is associated with poor response to neo-adjuvant chemotherapy.	Cancer Med	2014
24714652	Processed pseudogenes acquired somatically during cancer development.	Nat Commun	2014
23404370	Secretory meningiomas are defined by combined KLF4 K409Q and TRAF7 mutations.	Acta Neuropathol	2013
24325359	Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2.	N Engl J Med	2013
24162739	Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone.	Nat Genet	2013
24148783	The genetic heterogeneity and mutational burden of engineered melanomas in zebrafish models.	Genome Biol	2013
23986538	What is next generation sequencing?	Arch Dis Child Educ Pract Ed	2013
23778141	Whole exome sequencing of adenoid cystic carcinoma.	J Clin Invest	2013

1 - 50 of 106

Zeynep Coban Akdemir

Baylor College of Medicine

Career Start Year 2012

Number of shared co-authors 6

Christian Gilissen

Radboud University Medical Center

Career Start Year 2009

Number of shared co-authors 12

Angela Del Pozo

Instituto de Genetica Medica y Molecular (INGEMM), Hospital Universitario La Paz

Career Start Year 2008

Number of shared co-authors 1

Yaping Yang

Baylor College of Medicine

Career Start Year 2008

Number of shared co-authors 3

Shalini N Jhangiani

Baylor College of Medicine

Career Start Year 2007

Number of shared co-authors 16

Emma L Baple

University of Exeter Medical School, Royal Devon & Exeter Hospital

Career Start Year 2007

Number of shared co-authors 13

Richard H Scott

Great Ormond Street Hospital

Career Start Year 2006

Number of shared co-authors 15

Kaya Bilguvar

Acibadem Mehmet Ali Aydinlar University

Career Start Year 2005

Number of shared co-authors 7

Daniel C Koboldt

Institute for Genomic Medicine, Nationwide Children's Hospital

Career Start Year 2005

Number of shared co-authors 21

Minjie Luo

Children's Hospital of Philadelphia

Career Start Year 2004

Number of shared co-authors 2

Jennifer E Posey

Baylor College of Medicine

Career Start Year 2004

Number of shared co-authors 8

Michael A Simpson

King's College London

Career Start Year 2002

Number of shared co-authors 6

Tony Roscioli

Prince of Wales Hospital

Career Start Year 2000

Number of shared co-authors 9

Alistair T Pagnamenta

NIHR Biomedical Research Centre, University of Oxford

Career Start Year 1999

Number of shared co-authors 12

Andrew E Timms

Center for Integrative Brain Research, Seattle Children's Research Institute

Career Start Year 1998

Number of shared co-authors 4

Wojciech Wiszniewski

Oregon Health & Sciences University

Career Start Year 1998

Number of shared co-authors 2

Jennifer J Johnston

Center for Precision Health Research, National Human Genome Research Institute

Career Start Year 1997

Number of shared co-authors 1

Tom Walsh

University of Washington

Career Start Year 1996

Number of shared co-authors 7

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 19

Jenny C Taylor

University of Oxford

Career Start Year 1996

Number of shared co-authors 17

Stanley F Nelson

university of california los angeles

Career Start Year 1993

Number of shared co-authors 6

Julie M Gastier-Foster

Baylor College of Medicine

Career Start Year 1992

Number of shared co-authors 37

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 8

Shrikant Mane

Yale School of Medicine

Career Start Year 1989

Number of shared co-authors 7

Donna M Muzny

Baylor College of Medicine

Career Start Year 1988

Number of shared co-authors 49

Han G Brunner

Maastricht University Medical Centre

Career Start Year 1987

Number of shared co-authors 22

Siddharth Banka

University of Manchester

Career Start Year 1986

Number of shared co-authors 13

David R FitzPatrick

Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit

Career Start Year 1984

Number of shared co-authors 18

Thomas Meitinger

Technical University of Munich, Institute of Human Genetics

Career Start Year 1982

Number of shared co-authors 22

James R Lupski

Baylor College of Medicine

Career Start Year 1981

Number of shared co-authors 19

row(s) 1 - 30 of 30

Michael R Stratton

Wellcome Sanger Institute

Co-authored papers 56

Phillip A Futreal

The University of Texas MD Anderson Cancer Center

Co-authored papers 44

Jon Teague

Wellcome Sanger Institute

Co-authored papers 39

Peter J Campbell

Wellcome Sanger Institute

Co-authored papers 38

Adam Butler

Wellcome Sanger Institute

Co-authored papers 35

Keiran Raine

Wellcome Sanger Institute

Co-authored papers 26

David Jones

Wellcome Sanger Institute

Co-authored papers 25

Charles E Schwartz

Co-authored papers 25

Andrew Menzies

Wellcome Sanger Institute

Co-authored papers 24

Frances Lucy Raymond

University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust

Co-authored papers 21

Serena Nik-Zainal

Early Cancer Institute, University of Cambridge

Co-authored papers 20

David C Wedge

Manchester Cancer Research Centre, University of Manchester

Co-authored papers 20

Sarah Edkins

Co-authored papers 19

Sarah O'Meara

Clinical Research Facility, Mercy University Hospital

Co-authored papers 18

Adrienne M Flanagan

University College London, UCL Cancer Institute

Co-authored papers 18

Peter Van Loo

The Francis Crick Institute

Co-authored papers 17

Inigo Martincorena

Wellcome Sanger Institute

Co-authored papers 16

Laura Mudie

Wellcome Trust Sanger Institute

Co-authored papers 15

Jonathan Hinton

Inivata Ltd

Co-authored papers 13

Rebecca Shepherd

Murdoch Children's Research Institute, Royal Children's Hospital

Co-authored papers 13

Ultan McDermott

Wellcome Sanger Institute

Co-authored papers 12

Manasa Ramakrishna

Co-authored papers 12

Ludmil B Alexandrov

Moores Cancer Center, university of california san diego

Co-authored papers 11

Stuart McLaren

Wellcome Trust Sanger Institute

Co-authored papers 11

Claire Hardy

Wellcome Sanger Institute

Co-authored papers 11

Mark Maddison

Wellcome Sanger Institute

Co-authored papers 10

Gemma Buck

Co-authored papers 10

Susanna L Cooke

Institute of Cancer Sciences, University of Glasgow

Co-authored papers 10

Roberto Tirabosco

University College London, UCL Cancer Institute

Co-authored papers 10

Chris Greenman

University of East Anglia

Co-authored papers 9

1 - 30

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