OpenURL Connection Search

Select item for more details and to access through your institution.

Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk.
Published in:
Nature Genetics, 2012, v. 44, n. 11, p. 1182, doi. 10.1038/ng.2417
By:
- Orr, Nick;
- Lemnrau, Alina;
- Cooke, Rosie;
- Fletcher, Olivia;
- Tomczyk, Katarzyna;
- Jones, Michael;
- Johnson, Nichola;
- Lord, Christopher J;
- Mitsopoulos, Costas;
- Zvelebil, Marketa;
- McDade, Simon S;
- Buck, Gemma;
- Blancher, Christine;
- Trainer, Alison H;
- James, Paul A;
- Bojesen, Stig E;
- Bokmand, Susanne;
- Nevanlinna, Heli;
- Mattson, Johanna;
- Friedman, Eitan
Publication type:
Article
Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.
Published in:
Nature Genetics, 2009, v. 41, n. 5, p. 521, doi. 10.1038/ng.349
By:
- van Haaften, Gijs;
- Dalgliesh, Gillian L.;
- Davies, Helen;
- Chen, Lina;
- Bignell, Graham;
- Greenman, Chris;
- Edkins, Sarah;
- Hardy, Claire;
- O'Meara, Sarah;
- Teague, Jon;
- Butler, Adam;
- Hinton, Jonathan;
- Latimer, Calli;
- Andrews, Jenny;
- Barthorpe, Syd;
- Beare, Dave;
- Buck, Gemma;
- Campbell, Peter J.;
- Cole, Jennifer;
- Forbes, Simon
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
A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer.
Published in:
Nature Genetics, 2005, v. 37, n. 6, p. 590, doi. 10.1038/ng1571
By:
- Stephens, Philip;
- Edkins, Sarah;
- Davies, Helen;
- Greenman, Chris;
- Cox, Charles;
- Hunter, Chris;
- Bignell, Graham;
- Teague, Jon;
- Smith, Raffaella;
- Stevens, Claire;
- O'Meara, Sarah;
- Parker, Adrian;
- Tarpey, Patrick;
- Avis, Tim;
- Barthorpe, Andy;
- Brackenbury, Lisa;
- Buck, Gemma;
- Butler, Adam;
- Clements, Jody;
- Cole, Jennifer
Publication type:
Article
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2016, v. 9, n. 1, p. 9, doi. 10.1002/aur.1502
By:
- Kanduri, Chakravarthi;
- Kantojärvi, Katri;
- Salo, Paula M;
- Vanhala, Raija;
- Buck, Gemma;
- Blancher, Christine;
- Lähdesmäki, Harri;
- Järvelä, Irma
Publication type:
Article
Genome-Wide Copy Number Variation Analysis in Extended Families and Unrelated Individuals Characterized for Musical Aptitude and Creativity in Music.
Published in:
PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0056356
By:
- Ukkola-Vuoti, Liisa;
- Kanduri, Chakravarthi;
- Oikkonen, Jaana;
- Buck, Gemma;
- Blancher, Christine;
- Raijas, Pirre;
- Karma, Kai;
- Lähdesmäki, Harri;
- Järvelä, Irma
Publication type:
Article
The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1411, doi. 10.1038/ejhg.2013.60
By:
- Kanduri, Chakravarthi;
- Ukkola-Vuoti, Liisa;
- Oikkonen, Jaana;
- Buck, Gemma;
- Blancher, Christine;
- Raijas, Pirre;
- Karma, Kai;
- Lähdesmäki, Harri;
- Järvelä, Irma
Publication type:
Article
Signatures of mutation and selection in the cancer genome.
Published in:
Nature, 2010, v. 463, n. 7283, p. 893, doi. 10.1038/nature08768
By:
- Bignell, Graham R.;
- Greenman, Chris D.;
- Davies, Helen;
- Butler, Adam P.;
- Edkins, Sarah;
- Andrews, Jenny M.;
- Buck, Gemma;
- Chen, Lina;
- Beare, David;
- Latimer, Calli;
- Widaa, Sara;
- Hinton, Jonathon;
- Fahey, Ciara;
- Fu, Beiyuan;
- Swamy, Sajani;
- Dalgliesh, Gillian L.;
- Teh, Bin T.;
- Deloukas, Panos;
- Yang, Fengtang;
- Campbell, Peter J.
Publication type:
Article
Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.
Published in:
Nature, 2010, v. 463, n. 7279, p. 360, doi. 10.1038/nature08672
By:
- Dalgliesh, Gillian L.;
- Furge, Kyle;
- Greenman, Chris;
- Chen, Lina;
- Bignell, Graham;
- Butler, Adam;
- Davies, Helen;
- Edkins, Sarah;
- Hardy, Claire;
- Latimer, Calli;
- Teague, Jon;
- Andrews, Jenny;
- Barthorpe, Syd;
- Beare, Dave;
- Buck, Gemma;
- Campbell, Peter J.;
- Forbes, Simon;
- Mingming Jia;
- Jones, David;
- Knott, Henry
Publication type:
Article
Patterns of somatic mutation in human cancer genomes.
Published in:
Nature, 2007, v. 446, n. 7132, p. 153, doi. 10.1038/nature05610
By:
- Greenman, Christopher;
- Stephens, Philip;
- Smith, Raffaella;
- Dalgliesh, Gillian L.;
- Hunter, Christopher;
- Bignell, Graham;
- Davies, Helen;
- Teague, Jon;
- Butler, Adam;
- Stevens, Claire;
- Edkins, Sarah;
- O’Meara, Sarah;
- Vastrik, Imre;
- Schmidt, Esther E.;
- Avis, Tim;
- Barthorpe, Syd;
- Bhamra, Gurpreet;
- Buck, Gemma;
- Choudhury, Bhudipa;
- Clements, Jody
Publication type:
Article
Sequence analysis of the protein kinase gene family in human testicular germ‐cell tumors of adolescents and adults.
Published in:
Genes, Chromosomes & Cancer, 2006, v. 45, n. 1, p. 42, doi. 10.1002/gcc.20265
By:
- Graham Bignell;
- Raffaella Smith;
- Chris Hunter;
- Philip Stephens;
- Helen Davies;
- Chris Greenman;
- Jon Teague;
- Adam Butler;
- Sarah Edkins;
- Claire Stevens;
- Sarah O'Meara;
- Adrian Parker;
- Tim Avis;
- Syd Barthorpe;
- Lisa Brackenbury;
- Gemma Buck;
- Jody Clements;
- Jennifer Cole;
- Ed Dicks;
- Ken Edwards
Publication type:
Article

Found: 13