HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

Authors: Jozef Gecz, Raman Kumar, Roger E Stevenson, Michael Field, Michael J Friez, Susan Sklower Brooks, Monica J Basehore, Lesley C Adès, Courtney Sebold, Stephen McGee, Samantha Saxon, Cindy Skinner, Maria E Craig, Lucy Murray, Richard J Simensen, Ying Yzu Yap, Marie A Shaw, Alison Gardner, Mark Corbett, Matthias Bosshard, Barbara van Loon, Patrick S Tarpey, Fatima Abidi, Charles E Schwartz

Source: BMJ Open, Vol 6, Iss 4 (2016)

Subject Terms: Medicine

File Description: electronic resource

Relation: https://bmjopen.bmj.com/content/6/4/e009537.full; https://doaj.org/toc/2044-6055

Access URL: https://doaj.org/article/63e513f726c64e4db29d23d9f58c5f6e

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

Authors: Young Seok Ju, Ludmil B Alexandrov, Moritz Gerstung, Inigo Martincorena, Serena Nik-Zainal, Manasa Ramakrishna, Helen R Davies, Elli Papaemmanuil, Gunes Gundem, Adam Shlien, Niccolo Bolli, Sam Behjati, Patrick S Tarpey, Jyoti Nangalia, Charles E Massie, Adam P Butler, Jon W Teague, George S Vassiliou, Anthony R Green, Ming-Qing Du, Ashwin Unnikrishnan, John E Pimanda, Bin Tean Teh, Nikhil Munshi, Mel Greaves, Paresh Vyas, Adel K El-Naggar, Tom Santarius, V Peter Collins, Richard Grundy, Jack A Taylor, D Neil Hayes, David Malkin, ICGC Breast Cancer Group, ICGC Chronic Myeloid Disorders Group, ICGC Prostate Cancer Group, Christopher S Foster, Anne Y Warren, Hayley C Whitaker, Daniel Brewer, Rosalind Eeles, Colin Cooper, David Neal, Tapio Visakorpi, William B Isaacs, G Steven Bova, Adrienne M Flanagan, P Andrew Futreal, Andy G Lynch, Patrick F Chinnery, Ultan McDermott, Michael R Stratton, Peter J Campbell

Source: eLife, Vol 3 (2014)

Subject Terms: mitochondrial DNA, somatic mutation, mutational signature, cancer genome, evolution, sequencing, Medicine, Science, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://elifesciences.org/articles/02935; https://doaj.org/toc/2050-084X

Access URL: https://doaj.org/article/a97bb2e0fa0f4eb19b17cd3f405b0385

Recurrent rearrangements of FOS and FOSB define osteoblastoma

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

Source: Nature Communications, Vol 9, Iss 1, Pp 1-6 (2018)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/e874f5cac91c4dfcb8f739743873d777

The driver landscape of sporadic chordoma

Authors: Patrick S. Tarpey, Sam Behjati, Matthew D. Young, Inigo Martincorena, Ludmil B. Alexandrov, Sarah J. Farndon, Charlotte Guzzo, Claire Hardy, Calli Latimer, Adam P. Butler, Jon W. Teague, Adam Shlien, P. Andrew Futreal, Sohrab Shah, Ali Bashashati, Farzad Jamshidi, Torsten O. Nielsen, David Huntsman, Daniel Baumhoer, Sebastian Brandner, Jay Wunder, Brendan Dickson, Patricia Cogswell, Josh Sommer, Joanna J. Phillips, M. Fernanda Amary, Roberto Tirabosco, Nischalan Pillay, Stephen Yip, Michael R. Stratton, Adrienne M. Flanagan, Peter J. Campbell

Source: Nature Communications, Vol 8, Iss 1, Pp 1-6 (2017)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/208559b87d8a4491810952fc9347c3ba

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

Authors: Sam Behjati, Patrick S. Tarpey, Kerstin Haase, Hongtao Ye, Matthew D. Young, Ludmil B. Alexandrov, Sarah J. Farndon, Grace Collord, David C. Wedge, Inigo Martincorena, Susanna L. Cooke, Helen Davies, William Mifsud, Mathias Lidgren, Sancha Martin, Calli Latimer, Mark Maddison, Adam P. Butler, Jon W. Teague, Nischalan Pillay, Adam Shlien, Ultan McDermott, P. Andrew Futreal, Daniel Baumhoer, Olga Zaikova, Bodil Bjerkehagen, Ola Myklebost, M. Fernanda Amary, Roberto Tirabosco, Peter Van Loo, Michael R. Stratton, Adrienne M. Flanagan, Peter J. Campbell

Source: Nature Communications, Vol 8, Iss 1, Pp 1-8 (2017)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/4d580842711a47b9a0ba6bb379bd365f

Mutational signatures of ionizing radiation in second malignancies

Authors: Sam Behjati, Gunes Gundem, David C. Wedge, Nicola D. Roberts, Patrick S. Tarpey, Susanna L. Cooke, Peter Van Loo, Ludmil B. Alexandrov, Manasa Ramakrishna, Helen Davies, Serena Nik-Zainal, Claire Hardy, Calli Latimer, Keiran M. Raine, Lucy Stebbings, Andy Menzies, David Jones, Rebecca Shepherd, Adam P. Butler, Jon W. Teague, Mette Jorgensen, Bhavisha Khatri, Nischalan Pillay, Adam Shlien, P. Andrew Futreal, Christophe Badie, ICGC Prostate Group, Ultan McDermott, G. Steven Bova, Andrea L. Richardson, Adrienne M. Flanagan, Michael R. Stratton, Peter J. Campbell

Source: Nature Communications, Vol 7, Iss 1, Pp 1-8 (2016)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/6591661632a94c5d9e36a5a48f8dcf2c

Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer

Authors: Adam Shlien, Keiran Raine, Fabio Fuligni, Roland Arnold, Serena Nik-Zainal, Serge Dronov, Lira Mamanova, Andrej Rosic, Young Seok Ju, Susanna L. Cooke, Manasa Ramakrishna, Elli Papaemmanuil, Helen R. Davies, Patrick S. Tarpey, Peter Van Loo, David C. Wedge, David R. Jones, Sancha Martin, John Marshall, Elizabeth Anderson, Claire Hardy, Violetta Barbashina, Samuel A.J.R. Aparicio, Torill Sauer, Øystein Garred, Anne Vincent-Salomon, Odette Mariani, Sandrine Boyault, Aquila Fatima, Anita Langerød, Åke Borg, Gilles Thomas, Andrea L. Richardson, Anne-Lise Børresen-Dale, Kornelia Polyak, Michael R. Stratton, Peter J. Campbell

Source: Cell Reports, Vol 16, Iss 7, Pp 2032-2046 (2016)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124716309469; https://doaj.org/toc/2211-1247

Access URL: https://doaj.org/article/4492535398b04897a7bfaecb4a9c01d9

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

Authors: Alistair G. Reid, Patrick S. Tarpey, Ellie P. Nacheva

Source: Genes, Chromosomes & Cancer; Jul2003, Vol. 37 Issue 3, p282, 9p

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

Authors: Eleanor J. Davison, Patrick S. Tarpey, Heike Fiegler, Ian P. M. Tomlinson, Nigel P. Carter

Source: Genes, Chromosomes & Cancer; Dec2005, Vol. 44 Issue 4, p384-391, 0p