Works matching AU Tarpey, Patrick S

Results: 27

Circulating tumor DNA in patients with colorectal adenomas: assessment of detectability and genetic heterogeneity.

Published in:

Cell Death & Disease, 2018, v. 9, n. 9, p. 1, doi. 10.1038/s41419-018-0934-x

By:

Myint, Ni Ni Moe;
Verma, Ajay M.;
Fernandez-Garcia, Daniel;
Sarmah, Panchali;
Tarpey, Patrick S.;
Al-Aqbi, Saif Sattar;
Cai, Hong;
Trigg, Ricky;
West, Kevin;
Howells, Lynne M.;
Thomas, Anne;
Brown, Karen;
Guttery, David S.;
Singh, Baljit;
Pringle, Howard J.;
McDermott, Ultan;
Shaw, Jacqui A.;
Rufini, Alessandro

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 5, p. 544, doi. 10.1038/ejhg.2009.220

By:

Hackett, Anna;
Tarpey, Patrick S.;
Licata, Andrea;
Cox, James;
Whibley, Annabel;
Boyle, Jackie;
Rogers, Carolyn;
Grigg, John;
Partington, Michael;
Stevenson, Roger E.;
Tolmie, John;
Yates, John R. W.;
Turner, Gillian;
Wilson, Meredith;
Futreal, Andrew P.;
Corbett, Mark;
Shaw, Marie;
Gecz, Jozef;
Raymond, F. Lucy;
Stratton, Michael R.

Publication type:

Article

Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.

Published in:

2010

By:

Hackett, Anna;
Tarpey, Patrick S;
Licata, Andrea;
Cox, James;
Whibley, Annabel;
Boyle, Jackie;
Rogers, Carolyn;
Grigg, John;
Partington, Michael;
Stevenson, Roger E;
Tolmie, John;
Yates, John R W;
Turner, Gillian;
Wilson, Meredith;
Futreal, Andrew P;
Corbett, Mark;
Shaw, Marie;
Gecz, Jozef;
Raymond, F Lucy;
Stratton, Michael R

Publication type:

Correction Notice

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

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 330, doi. 10.1038/ejhg.2009.175

By:

Rujirabanjerd, Sinitdhorn;
Nelson, John;
Tarpey, Patrick S.;
Hackett, Anna;
Edkins, Sarah;
Raymond, F Lucy;
Schwartz, Charles E.;
Turner, Gillian;
Iwase, Shigeki;
Yang Shi;
Futreal, P. Andrew;
Stratton, Michael R.;
Gecz, Jozef

Publication type:

Article

Recurrent PTPRB and PLCG1 mutations in angiosarcoma.

Published in:

Nature Genetics, 2014, v. 46, n. 4, p. 376, doi. 10.1038/ng.2921

By:

Behjati, Sam;
Tarpey, Patrick S;
Sheldon, Helen;
Martincorena, Inigo;
Van Loo, Peter;
Gundem, Gunes;
Wedge, David C;
Ramakrishna, Manasa;
Cooke, Susanna L;
Pillay, Nischalan;
Vollan, Hans Kristian M;
Papaemmanuil, Elli;
Koss, Hans;
Bunney, Tom D;
Hardy, Claire;
Joseph, Olivia R;
Martin, Sancha;
Mudie, Laura;
Butler, Adam;
Teague, Jon W

Publication type:

Article

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

Published in:

Nature Genetics, 2014, v. 46, n. 3, p. 316, doi. 10.1038/ng0314-316

By:

Behjati, Sam;
Tarpey, Patrick S;
Presneau, Nadège;
Scheipl, Susanne;
Pillay, Nischalan;
Van Loo, Peter;
Wedge, David C;
Cooke, Susanna L;
Gundem, Gunes;
Davies, Helen;
Nik-Zainal, Serena;
Martin, Sancha;
McLaren, Stuart;
Goodie, Victoria;
Robinson, Ben;
Butler, Adam;
Teague, Jon W;
Halai, Dina;
Khatri, Bhavisha;
Myklebost, Ola

Publication type:

Article

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

Published in:

Nature Genetics, 2013, v. 45, n. 12, p. 1479, doi. 10.1038/ng.2814

By:

Behjati, Sam;
Tarpey, Patrick S;
Presneau, Nadège;
Scheipl, Susanne;
Pillay, Nischalan;
Van Loo, Peter;
Wedge, David C;
Cooke, Susanna L;
Gundem, Gunes;
Davies, Helen;
Nik-Zainal, Serena;
Martin, Sancha;
McLaren, Stuart;
Goodie, Victoria;
Robinson, Ben;
Butler, Adam;
Teague, Jon W;
Halai, Dina;
Khatri, Bhavisha;
Myklebost, Ola

Publication type:

Article

Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.

Published in:

Nature Genetics, 2013, v. 45, n. 8, p. 923, doi. 10.1038/ng.2668

By:

Tarpey, Patrick S;
Behjati, Sam;
Cooke, Susanna L;
Van Loo, Peter;
Wedge, David C;
Pillay, Nischalan;
Marshall, John;
O'Meara, Sarah;
Davies, Helen;
Nik-Zainal, Serena;
Beare, David;
Butler, Adam;
Gamble, John;
Hardy, Claire;
Hinton, Jonathon;
Jia, Ming Ming;
Jayakumar, Alagu;
Jones, David;
Latimer, Calli;
Maddison, Mark

Publication type:

Article

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

Published in:

Nature Genetics, 2012, v. 44, n. 11, p. 1185, doi. 10.1038/ng.2419

By:

Pillay, Nischalan;
Plagnol, Vincent;
Tarpey, Patrick S;
Lobo, Samira B;
Presneau, Nadège;
Szuhai, Karoly;
Halai, Dina;
Berisha, Fitim;
Cannon, Stephen R;
Mead, Simon;
Kasperaviciute, Dalia;
Palmen, Jutta;
Talmud, Philippa J;
Kindblom, Lars-Gunnar;
Amary, M Fernanda;
Tirabosco, Roberto;
Flanagan, Adrienne M

Publication type:

Article

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

Published in:

Nature Genetics, 2010, v. 42, n. 6, p. 486, doi. 10.1038/ng.588

By:

Shoubridge, Cheryl;
Tarpey, Patrick S.;
Abidi, Fatima;
Ramsden, Sarah L.;
Rujirabanjerd, Sinitdhorn;
Murphy, Jessica A.;
Boyle, Jackie;
Shaw, Marie;
Gardner, Alison;
Proos, Anne;
Puusepp, Helen;
Raymond, F. Lucy;
Schwartz, Charles E.;
Stevenson, Roger E.;
Turner, Gill;
Field, Michael;
Walikonis, Randall S.;
Harvey, Robert J.;
Hackett, Anna;
Futreal, P. Andrew

Publication type:

Article

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

Published in:

Nature Genetics, 2009, v. 41, n. 5, p. 535, doi. 10.1038/ng.367

By:

Tarpey, Patrick S.;
Smith, Raffaella;
Pleasance, Erin;
Whibley, Annabel;
Edkins, Sarah;
Hardy, Claire;
O'Meara, Sarah;
Latimer, Calli;
Dicks, Ed;
Menzies, Andrew;
Stephens, Phil;
Blow, Matt;
Greenman, Chris;
Yali Xue;
Tyler-Smith, Chris;
Thompson, Deborah;
Gray, Kristian;
Andrews, Jenny;
Barthorpe, Syd;
Buck, Gemma

Publication type:

Article

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

Published in:

Nature Genetics, 2008, v. 40, n. 6, p. 776, doi. 10.1038/ng.149

By:

Dibbens, Leanne M.;
Tarpey, Patrick S.;
Hynes, Kim;
Bayly, Marta A.;
Scheffer, Ingrid E.;
Smith, Raffaella;
Bomar, Jamee;
Sutton, Edwina;
Vandeleur, Lucianne;
Shoubridge, Cheryl;
Edkins, Sarah;
Turner, Samantha J.;
Stevens, Claire;
O'Meara, Sarah;
Tofts, Calli;
Barthorpe, Syd;
Buck, Gemma;
Cole, Jennifer;
Halliday, Kelly;
Jones, David

Publication type:

Article

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

Published in:

Nature Genetics, 2007, v. 39, n. 9, p. 1127, doi. 10.1038/ng2100

By:

Tarpey, Patrick S.;
Lucy Raymond, F.;
Nguyen, Lam S.;
Rodriguez, Jayson;
Hackett, Anna;
Vandeleur, Lucianne;
Smith, Raffaella;
Shoubridge, Cheryl;
Edkins, Sarah;
Stevens, Claire;
O'Meara, Sarah;
Tofts, Calli;
Barthorpe, Syd;
Buck, Gemma;
Cole, Jennifer;
Halliday, Kelly;
Hills, Katy;
Jones, David;
Mironenko, Tatiana;
Perry, Janet

Publication type:

Article

Deletion at chromosome band 20p12.1 in colorectal cancer revealed by high resolution array comparative genomic hybridization.

Published in:

Genes, Chromosomes & Cancer, 2005, v. 44, n. 4, p. 384, doi. 10.1002/gcc.20252

By:

Eleanor J. Davison;
Patrick S. Tarpey;
Heike Fiegler;
Ian P. M. Tomlinson;
Nigel P. Carter

Publication type:

Article

High-resolution analysis of acquired genomic imbalances in bone marrow samples from chronic myeloid leukemia patients by use of multiple short DNA probes.

Published in:

Genes, Chromosomes & Cancer, 2003, v. 37, n. 3, p. 282, doi. 10.1002/gcc.10215

By:

Alistair G. Reid;
Patrick S. Tarpey;
Ellie P. Nacheva

Publication type:

Article

Whole exome sequencing of adenoid cystic carcinoma.

Published in:

2013

By:

Stephens, Philip J;
Davies, Helen R;
Mitani, Yoshitsugu;
Van Loo, Peter;
Shlien, Adam;
Tarpey, Patrick S;
Papaemmanuil, Elli;
Cheverton, Angela;
Bignell, Graham R;
Butler, Adam P;
Gamble, John;
Gamble, Stephen;
Hardy, Claire;
Hinton, Jonathan;
Jia, Mingming;
Jayakumar, Alagu;
Jones, David;
Latimer, Calli;
McLaren, Stuart;
McBride, David J

Publication type:

journal article

Whole exome sequencing of adenoid cystic carcinoma.

Published in:

Journal of Clinical Investigation, 2013, v. 123, n. 7, p. 2965, doi. 10.1172/JCI67201

By:

Stephens, Philip J.;
Davies, Helen R.;
Mitani, Yoshitsugu;
Van Loo, Peter;
Shlien, Adam;
Tarpey, Patrick S.;
Papaemmanuil, Elli;
Cheverton, Angela;
Bignell, Graham R.;
Butler, Adam P.;
Gamble, John;
Gamble, Stephen;
Hardy, Claire;
Hinton, Jonathan;
Mingming Jia;
Jayakumar, Alagu;
Jones, David;
Latimer, Calli;
McLaren, Stuart;
McBride, David J.

Publication type:

Article

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

Published in:

Human Genetics, 2008, v. 123, n. 5, p. 469, doi. 10.1007/s00439-008-0498-4

By:

Santos, Lane J. Jaeckle;
Chao Xing;
Barnes, Robert B.;
Ades, Lesley C.;
Megarbane, Andre;
Vidal, Christopher;
Xuereb, Angela;
Tarpey, Patrick S.;
Smith, RaVaella;
Khazab, Mahmoud;
Shoubridge, Cheryl;
Partington, Michael;
Futreal, Andrew;
Stratton, Michael R.;
Gecz, Jozef;
Zinn, Andrew R.

Publication type:

Article

Recurrent rearrangements of FOS and FOSB define osteoblastoma.

Published in:

Nature Communications, 2018, v. 9, p. 1, doi. 10.1038/s41467-018-04530-z

By:

Fittall, Matthew W.;
Mifsud, William;
Pillay, Nischalan;
Hongtao Ye;
Strobl, Anna-Christina;
Verfaillie, Annelien;
Demeulemeester, Jonas;
Lei Zhang;
Berisha, Fitim;
Tarabichi, Maxime;
Young, Matthew D.;
Miranda, Elena;
Tarpey, Patrick S.;
Tirabosco, Roberto;
Amary, Fernanda;
Grigoriadis, Agamemnon E.;
Stratton, Michael R.;
Van Loo, Peter;
Antonescu, Cristina R.;
Campbell, Peter J.

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 1010, doi. 10.1038/ejhg.2012.114

By:

Rujirabanjerd, Sinitdhorn;
Nelson, John;
Tarpey, Patrick S;
Hackett, Anna;
Edkins, Sarah;
Raymond, F Lucy;
Schwartz, Charles E;
Turner, Gillian;
Iwase, Shigeki;
Shi, Yang;
Futreal, P Andrew;
Stratton, Michael R;
Gecz, Jozef

Publication type:

Article

Epithelial phosphate transport in ruminants, mechanisms and regulation.

Published in:

1996

By:

Shirazi-Beechey, Soraya P.;
Penny, Jeffery I.;
Dyer, Jane;
Wood, I. Stuart;
Tarpey, Patrick S.;
Scott, Dennis;
Buchan, William;
Shirazi-Beechey, S P;
Penny, J I;
Dyer, J;
Wood, I S;
Tarpey, P S;
Scott, D;
Buchan, W

Publication type:

journal article

The driver landscape of sporadic chordoma.

Published in:

Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01026-0

By:

Tarpey, Patrick S.;
Behjati, Sam;
Young, Matthew D.;
Martincorena, Inigo;
Alexandrov, Ludmil B.;
Farndon, Sarah J.;
Guzzo, Charlotte;
Hardy, Claire;
Latimer, Calli;
Butler, Adam P.;
Teague, Jon W.;
Shlien, Adam;
Futreal, P. Andrew;
Shah, Sohrab;
Bashashati, Ali;
Jamshidi, Farzad;
Nielsen, Torsten O.;
Huntsman, David;
Baumhoer, Daniel;
Brandner, Sebastian

Publication type:

Article

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

Published in:

Nature Communications, 2017, v. 8, n. 6, p. 15936, doi. 10.1038/ncomms15936

By:

Behjati, Sam;
Tarpey, Patrick S.;
Haase, Kerstin;
Ye, Hongtao;
Young, Matthew D.;
Alexandrov, Ludmil B.;
Farndon, Sarah J.;
Collord, Grace;
Wedge, David C.;
Martincorena, Inigo;
Cooke, Susanna L.;
Davies, Helen;
Mifsud, William;
Lidgren, Mathias;
Martin, Sancha;
Latimer, Calli;
Maddison, Mark;
Butler, Adam P.;
Teague, Jon W.;
Pillay, Nischalan

Publication type:

Article

Mutational signatures of ionizing radiation in second malignancies.

Published in:

Nature Communications, 2016, v. 7, n. 9, p. 12605, doi. 10.1038/ncomms12605

By:

Behjati, Sam;
Gundem, Gunes;
Wedge, David C.;
Roberts, Nicola D.;
Tarpey, Patrick S.;
Cooke, Susanna L.;
Van Loo, Peter;
Alexandrov, Ludmil B.;
Ramakrishna, Manasa;
Davies, Helen;
Nik-Zainal, Serena;
Hardy, Claire;
Latimer, Calli;
Raine, Keiran M.;
Stebbings, Lucy;
Menzies, Andy;
Jones, David;
Shepherd, Rebecca;
Butler, Adam P.;
Teague, Jon W.

Publication type:

Article

Processed pseudogenes acquired somatically during cancer development.

Published in:

Nature Communications, 2014, v. 5, n. 4, p. 3644, doi. 10.1038/ncomms4644

By:

Cooke, Susanna L.;
Shlien, Adam;
Marshall, John;
Pipinikas, Christodoulos P.;
Martincorena, Inigo;
Tubio, Jose M.C.;
Li, Yilong;
Menzies, Andrew;
Mudie, Laura;
Ramakrishna, Manasa;
Yates, Lucy;
Davies, Helen;
Bolli, Niccolo;
Bignell, Graham R.;
Tarpey, Patrick S.;
Behjati, Sam;
Nik-Zainal, Serena;
Papaemmanuil, Elli;
Teixeira, Vitor H.;
Raine, Keiran

Publication type:

Article

Genome sequencing of normal cells reveals developmental lineages and mutational processes.

Published in:

Nature, 2014, v. 513, n. 7518, p. 422, doi. 10.1038/nature13448

By:

Behjati, Sam;
Huch, Meritxell;
van Boxtel, Ruben;
Karthaus, Wouter;
Wedge, David C.;
Martincorena, Iñigo;
Petljak, Mia;
Alexandrov, Ludmil B.;
Gundem, Gunes;
Tarpey, Patrick S.;
Roerink, Sophie;
Maddison, Mark;
Mudie, Laura;
Robinson, Ben;
Campbell, Peter;
Stratton, Michael R.;
Tamuri, Asif U.;
Goldman, Nick;
Blokker, Joyce;
van de Wetering, Marc

Publication type:

Article

The landscape of cancer genes and mutational processes in breast cancer.

Published in:

Nature, 2012, v. 486, n. 7403, p. 400, doi. 10.1038/nature11017

By:

Stephens, Philip J.;
Tarpey, Patrick S.;
Davies, Helen;
Van Loo, Peter;
Greenman, Chris;
Wedge, David C.;
Nik-Zainal, Serena;
Martin, Sancha;
Varela, Ignacio;
Bignell, Graham R.;
Yates, Lucy R.;
Papaemmanuil, Elli;
Beare, David;
Butler, Adam;
Cheverton, Angela;
Gamble, John;
Hinton, Jonathan;
Jia, Mingming;
Jayakumar, Alagu;
Jones, David

Publication type:

Article