1 - 25 of 76 results for author:"Stratton M.R." in Literature citations
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| Genome sequencing and analysis of the Tasmanian devil and its transmissible cancer. Murchison E.P., Schulz-Trieglaff O.B., Ning Z., Alexandrov L.B., Bauer M.J., Fu B., Hims M., Ding Z., Ivakhno S., Stewart C. et al. Cell 148:780-791(2012) · UniProtKB (13) |
| Gene-gene interactions in breast cancer susceptibility. Turnbull C., Seal S., Renwick A., Warren-Perry M., Hughes D., Elliott A., Pernet D., Peock S., Adlard J.W., Barwell J. et al. Hum. Mol. Genet. 21:958-962(2012) · Mapped (27) |
| Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms. Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium and of the Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative Blood 118:6239-6246(2011) · Mapped (9) |
| Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium N. Engl. J. Med. 365:1384-1395(2011) · Mapped (9) |
| DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. Slade I., Bacchelli C., Davies H., Murray A., Abbaszadeh F., Hanks S., Barfoot R., Burke A., Chisholm J., Hewitt M. et al. J. Med. Genet. 48:273-278(2011) · Mapped (6) |
| Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P., Davies H., Jones D., Lin M.L., Teague J. et al. Nature 469:539-542(2011) · UniProtKB (74) |
| Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. McLarren K.W., Severson T.M., du Souich C., Stockton D.W., Kratz L.E., Cunningham D., Hendson G., Morin R.D., Wu D., Paul J.E. et al. Am. J. Hum. Genet. 87:905-914(2010) · UniProtKB (1) · Mapped (4) |
| Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Noor A., Whibley A., Marshall C.R., Gianakopoulos P.J., Piton A., Carson A.R., Orlic-Milacic M., Lionel A.C., Sato D., Pinto D. et al. Sci. Transl. Med. 2:49RA68-49RA68(2010) · UniProtKB (2) · Mapped (2) |
| GLO1-A novel amplified gene in human cancer. Santarius T., Bignell G.R., Greenman C.D., Widaa S., Chen L., Mahoney C.L., Butler A., Edkins S., Waris S., Thornalley P.J. et al. Genes Chromosomes Cancer 49:711-725(2010) · Mapped (1) |
| Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. Turnbull C., Rapley E.A., Seal S., Pernet D., Renwick A., Hughes D., Ricketts M., Linger R., Nsengimana J., Deloukas P. et al. |
| Mutation and association analysis of GEN1 in breast cancer susceptibility. Turnbull C., Hines S., Renwick A., Hughes D., Pernet D., Elliott A., Seal S., Warren-Perry M., Gareth Evans D., Eccles D. et al. Breast Cancer Res. Treat. 124:283-288(2010) · Mapped (2) |
| Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. Shoubridge C., Tarpey P.S., Abidi F., Ramsden S.L., Rujirabanjerd S., Murphy J.A., Boyle J., Shaw M., Gardner A., Proos A. et al. |
| Genome-wide association study identifies five new breast cancer susceptibility loci. Turnbull C., Ahmed S., Morrison J., Pernet D., Renwick A., Maranian M., Seal S., Ghoussaini M., Hines S., Healey C.S. et al. Nat. Genet. 42:504-507(2010) · Mapped (7) |
| Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Wellcome Trust Case Control Consortium Nature 464:713-720(2010) · Mapped (3) |
| Novel candidate cancer genes identified by a large-scale cross-species comparative oncogenomics approach. Mattison J., Kool J., Uren A.G., de Ridder J., Wessels L., Jonkers J., Bignell G.R., Butler A., Rust A.G., Brosch M. et al. Cancer Res. 70:883-895(2010) · Mapped (50) |
| Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Dalgliesh G.L., Furge K., Greenman C., Chen L., Bignell G., Butler A., Davies H., Edkins S., Hardy C., Latimer C. et al. Nature 463:360-363(2010) · Mapped (20) |
| CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Hackett A., Tarpey P.S., Licata A., Cox J., Whibley A., Boyle J., Rogers C., Grigg J., Partington M., Stevenson R.E. et al. Eur. J. Hum. Genet. 18:544-552(2010) · Mapped (2) |
| Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene. Slade I., Stephens P., Douglas J., Barker K., Stebbings L., Abbaszadeh F., Pritchard-Jones K., Cole R., Pizer B., Stiller C. et al. J. Med. Genet. 47:342-347(2010) · UniProtKB (1) |
| Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. Rujirabanjerd S., Nelson J., Tarpey P.S., Hackett A., Edkins S., Raymond F.L., Schwartz C.E., Turner G., Iwase S., Shi Y. et al. Eur. J. Hum. Genet. 18:330-335(2010) · Mapped (3) |
| Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. Hynes K., Tarpey P., Dibbens L.M., Bayly M.A., Berkovic S.F., Smith R., Raisi Z.A., Turner S.J., Brown N.J., Desai T.D. et al. J. Med. Genet. 47:211-216(2010) · UniProtKB (1) · Mapped (2) |
| A genome-wide association study of testicular germ cell tumor. Rapley E.A., Turnbull C., Al Olama A.A., Dermitzakis E.T., Linger R., Huddart R.A., Renwick A., Hughes D., Hines S., Seal S. et al. Nat. Genet. 41:807-810(2009) · Mapped (12) |
| Arena syndrome is caused by a missense mutation in PLP1. Stevenson R.E., Tarpey P., May M.M., Stratton M.R., Schwartz C.E. Am. J. Med. Genet. A 149A:1081-1081(2009) · Mapped (13) |
| A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Tarpey P.S., Smith R., Pleasance E., Whibley A., Edkins S., Hardy C., O'Meara S., Latimer C., Dicks E., Menzies A. et al. |
| Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer. van Haaften G., Dalgliesh G.L., Davies H., Chen L., Bignell G., Greenman C., Edkins S., Hardy C., O'Meara S., Teague J. et al. Nat. Genet. 41:521-523(2009) · Mapped (17) |
| Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. GENICA Consortium Nat. Genet. 41:585-590(2009) · Mapped (13) |