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Author/Creator Tarpey, Patrick

1. A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. Issue 4 (22nd January 2015)

Authors:
Corbett, Mark A; Dudding-Byth, Tracy; Crock, Patricia A; Botta, Elena; Christie, Louise M; Nardo, Tiziana; Caligiuri, Giuseppina; Hobson, Lynne; Boyle, Jackie; Mansour, Albert; Friend, Kathryn L; Crawford, Jo; Jackson, Graeme; Vandeleur, Lucianne; Hackett, Anna; Tarpey, Patrick; Stratton, Michael...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 4(2015)
Page Start:
269
Record Type:
Journal Article
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2. A rare case of paediatric astroblastoma with concomitant MN1‐GTSE1 and EWSR1‐PATZ1 gene fusions altering management. (22nd February 2021)

Authors:
Chadda, Karan R.; Holland, Katherine; Scoffings, Daniel; Dean, Andrew; Pickles, Jessica C.; Behjati, Sam; Jacques, Thomas S.; Trotman, Jamie; Tarpey, Patrick; Allinson, Kieren; Murray, Matthew J.
Journal:
Neuropathology & applied neurobiology
Issue:
Volume 47:Number 6(2021)
Page Start:
882
Record Type:
Journal Article
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3. AscatNgs: Identifying Somatically Acquired Copy‐Number Alterations from Whole‐Genome Sequencing Data. Issue 1 (8th December 2016)

Authors:
Raine, Keiran M.; Van Loo, Peter; Wedge, David C.; Jones, David; Menzies, Andrew; Butler, Adam P.; Teague, Jon W.; Tarpey, Patrick; Nik‐Zainal, Serena; Campbell, Peter J.
Editors:
Bateman, Alex; Pearson, William R.; Stein, Lincoln D.; Stormo, Gary D.; Yates, John R.
Journal:
Current protocols in bioinformatics
Issue:
Volume 56:Issue 1(2016)
Page Start:
15.9.1
Record Type:
Journal Article
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4. CgpPindel: Identifying Somatically Acquired Insertion and Deletion Events from Paired End Sequencing. Issue 1 (17th December 2015)

Authors:
Raine, Keiran M.; Hinton, Jonathan; Butler, Adam P.; Teague, Jon W.; Davies, Helen; Tarpey, Patrick; Nik‐Zainal, Serena; Campbell, Peter J.
Editors:
Bateman, Alex; Pearson, William R.; Stein, Lincoln D.; Stormo, Gary D.; Yates, John R.
Journal:
Current protocols in bioinformatics
Issue:
Volume 52:Issue 1(2015)
Page Start:
15.7.1
Record Type:
Journal Article
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5. Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast‐rich mimics. (16th March 2015)

Authors:
Presneau, Nadège; Baumhoer, Daniel; Behjati, Sam; Pillay, Nischalan; Tarpey, Patrick; Campbell, Peter J; Jundt, Gernot; Hamoudi, Rifat; Wedge, David C; Loo, Peter Van; Hassan, A Bassim; Khatri, Bhavisha; Ye, Hongtao; Tirabosco, Roberto; Amary, M Fernanda; Flanagan, Adrienne M
Journal:
Journal of pathology
Issue:
Volume 1:Number 2(2015)
Page Start:
113
Record Type:
Journal Article
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6. Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders. Issue 4 (6th February 2019)

Authors:
Srivastava, Siddharth; Niranjan, Tejasvi; May, Melanie M.; Tarpey, Patrick; Allen, William; Hackett, Anna; Jouk, Pierre‐Simon; Raymond, Lucy; Briault, Slyvain; Skinner, Cindy; Toutain, Annick; Gecz, Jozef; Heath, William; Stevenson, Roger E.; Schwartz, Charles E.; Wang, Tao
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 4(2019)
Page Start:
n/a
Record Type:
Journal Article
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7. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. Issue 3 (14th September 2009)

Authors:
Hynes, Kim; Tarpey, Patrick; Dibbens, Leanne M; Bayly, Marta A; Berkovic, Samuel F; Smith, Raffaella; Raisi, Zahyia Al; Turner, Samantha J; Brown, Natasha J; Desai, Tarishi D; Haan, Eric; Turner, Gillian; Christodoulou, John; Leonard, Helen; Gill, Deepak; Stratton, Michael R; Gecz, Jozef; Scheffe...
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 3(2010)
Page Start:
211
Record Type:
Journal Article
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8. Fibroblastic growth factor receptor 1 amplification in osteosarcoma is associated with poor response to neo‐adjuvant chemotherapy. (27th May 2014)

Authors:
Fernanda Amary, M.; Ye, Hongtao; Berisha, Fitim; Khatri, Bhavisha; Forbes, Georgina; Lehovsky, Katie; Frezza, Anna M.; Behjati, Sam; Tarpey, Patrick; Pillay, Nischalan; Campbell, Peter J.; Tirabosco, Roberto; Presneau, Nadège; Strauss, Sandra J.; Flanagan, Adrienne M.
Journal:
Cancer medicine
Issue:
Volume 3:Number 4(2014:Aug.)
Page Start:
980
Record Type:
Journal Article
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10. Recurrent FOSL1 rearrangements in desmoplastic fibroblastoma. Issue 2 (3rd January 2023)

Authors:
De Noon, Solange; Piggott, Robert; Trotman, Jamie; Tadross, John A; Fittall, Matthew; Hughes, Debbie; Ye, Hongtao; Munasinghe, Emani; Murray, Matthew; Tirabosco, Roberto; Amary, Fernanda; Coleman, Nicholas; Watkins, James; Hubank, Michael; Tarpey, Patrick; Behjati, Sam; Flanagan, Adrienne M
Journal:
Journal of pathology
Issue:
Volume 259:Issue 2(2023)
Page Start:
119
Record Type:
Journal Article
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