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Corrigendum: Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
Published in:
Nature Genetics, 2014, v. 46, n. 6, p. 657, doi. 10.1038/ng0614-657c
By:
- Tatton-Brown, Katrina;
- Seal, Sheila;
- Ruark, Elise;
- Harmer, Jenny;
- Ramsay, Emma;
- del Vecchio Duarte, Silvana;
- Zachariou, Anna;
- Hanks, Sandra;
- O'Brien, Eleanor;
- Aksglaede, Lise;
- Baralle, Diana;
- Dabir, Tabib;
- Gener, Blanca;
- Goudie, David;
- Homfray, Tessa;
- Kumar, Ajith;
- Pilz, Daniela T;
- Selicorni, Angelo;
- Temple, I Karen;
- Van Maldergem, Lionel
Publication type:
Article
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
Published in:
Nature Genetics, 2014, v. 46, n. 4, p. 385, doi. 10.1038/ng.2917
By:
- Tatton-Brown, Katrina;
- Seal, Sheila;
- Ruark, Elise;
- Harmer, Jenny;
- Ramsay, Emma;
- del Vecchio Duarte, Silvana;
- Zachariou, Anna;
- Hanks, Sandra;
- O'Brien, Eleanor;
- Aksglaede, Lise;
- Baralle, Diana;
- Dabir, Tabib;
- Gener, Blanca;
- Goudie, David;
- Homfray, Tessa;
- Kumar, Ajith;
- Pilz, Daniela T;
- Selicorni, Angelo;
- Temple, I Karen;
- Van Maldergem, Lionel
Publication type:
Article
A genome-wide association study identifies susceptibility loci for Wilms tumor.
Published in:
Nature Genetics, 2013, v. 45, n. 8, p. 962, doi. 10.1038/ng0813-962a
By:
- Turnbull, Clare;
- Perdeaux, Elizabeth R;
- Pernet, David;
- Naranjo, Arlene;
- Renwick, Anthony;
- Seal, Sheila;
- Munoz-Xicola, Rosa Maria;
- Hanks, Sandra;
- Slade, Ingrid;
- Zachariou, Anna;
- Warren-Perry, Margaret;
- Ruark, Elise;
- Gerrard, Mary;
- Hale, Juliet;
- Hewitt, Martin;
- Kohler, Janice;
- Lane, Sheila;
- Levitt, Gill;
- Madi, Mabrook;
- Morland, Bruce
Publication type:
Article
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
Published in:
Nature Genetics, 2013, v. 45, n. 6, p. 686, doi. 10.1038/ng.2635
By:
- Ruark, Elise;
- Seal, Sheila;
- McDonald, Heather;
- Zhang, Feng;
- Elliot, Anna;
- Lau, KingWai;
- Perdeaux, Elizabeth;
- Rapley, Elizabeth;
- Eeles, Rosalind;
- Peto, Julian;
- Kote-Jarai, Zsofia;
- Muir, Kenneth;
- Nsengimana, Jeremie;
- Shipley, Janet;
- Bishop, D Timothy;
- Stratton, Michael R;
- Easton, Douglas F;
- Huddart, Robert A;
- Rahman, Nazneen;
- Turnbull, Clare
Publication type:
Article
A genome-wide association study identifies susceptibility loci for Wilms tumor.
Published in:
Nature Genetics, 2012, v. 44, n. 7, p. 831, doi. 10.1038/ng0712-831c
By:
- Turnbull, Clare;
- Perdeaux, Elizabeth R;
- Pernet, David;
- Naranjo, Arlene;
- Renwick, Anthony;
- Seal, Sheila;
- Munoz-Xicola, Rosa Maria;
- Hanks, Sandra;
- Slade, Ingrid;
- Zachariou, Anna;
- Warren-Perry, Margaret;
- Ruark, Elise;
- Gerrard, Mary;
- Hale, Juliet;
- Hewitt, Martin;
- Kohler, Janice;
- Lane, Sheila;
- Levitt, Gill;
- Madi, Mabrook;
- Morland, Bruce
Publication type:
Article
A genome-wide association study identifies susceptibility loci for Wilms tumor.
Published in:
Nature Genetics, 2012, v. 44, n. 6, p. 681, doi. 10.1038/ng.2251
By:
- Turnbull, Clare;
- Perdeaux, Elizabeth R;
- Pernet, David;
- Naranjo, Arlene;
- Renwick, Anthony;
- Seal, Sheila;
- Munoz-Xicola, Rosa Maria;
- Hanks, Sandra;
- Slade, Ingrid;
- Zachariou, Anna;
- Warren-Perry, Margaret;
- Ruark, Elise;
- Gerrard, Mary;
- Hale, Juliet;
- Hewitt, Martin;
- Kohler, Janice;
- Lane, Sheila;
- Levitt, Gill;
- Madi, Mabrook;
- Morland, Bruce
Publication type:
Article
Germline RAD51C mutations confer susceptibility to ovarian cancer.
Published in:
Nature Genetics, 2012, v. 44, n. 5, p. 475, doi. 10.1038/ng.2224
By:
- Loveday, Chey;
- Turnbull, Clare;
- Ruark, Elise;
- Xicola, Rosa Maria Munoz;
- Ramsay, Emma;
- Hughes, Deborah;
- Warren-Perry, Margaret;
- Snape, Katie;
- Eccles, Diana;
- Evans, D Gareth;
- Gore, Martin;
- Renwick, Anthony;
- Seal, Sheila;
- Antoniou, Antonis C;
- Rahman, Nazneen
Publication type:
Article
Germline mutations in RAD51D confer susceptibility to ovarian cancer.
Published in:
Nature Genetics, 2011, v. 43, n. 9, p. 879, doi. 10.1038/ng.893
By:
- Loveday, Chey;
- Turnbull, Clare;
- Ramsay, Emma;
- Hughes, Deborah;
- Ruark, Elise;
- Frankum, Jessica R.;
- Bowden, Georgina;
- Kalmyrzaev, Bolot;
- Warren-Perry, Margaret;
- Snape, Katie;
- Adlard, Julian W.;
- Barwell, Julian;
- Berg, Jonathan;
- Brady, Angela F.;
- Brewer, Carole;
- Brice, Glen;
- Chapman, Cyril;
- Cook, Jackie;
- Davidson, Rosemarie;
- Donaldson, Alan
Publication type:
Article
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
Published in:
Nature Genetics, 2011, v. 43, n. 6, p. 527, doi. 10.1038/ng.822
By:
- Snape, Katie;
- Hanks, Sandra;
- Ruark, Elise;
- Barros-Núñez, Patricio;
- Elliott, Anna;
- Murray, Anne;
- Lane, Andrew H.;
- Shannon, Nora;
- Callier, Patrick;
- Chitayat, David;
- Clayton-Smith, Jill;
- FitzPatrick, David R;
- Gisselsson, David;
- Jacquemont, Sebastien;
- Asakura-Hay, Keiko;
- Micale, Mark A.;
- Tolmie, John;
- Turnpenny, Peter D.;
- Wright, Michael;
- Douglas, Jenny
Publication type:
Article
OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.
Published in:
Scientific Reports, 2016, p. 31029, doi. 10.1038/srep31029
By:
- Ruark, Elise;
- Münz, Márton;
- Clarke, Matthew;
- Renwick, Anthony;
- Ramsay, Emma;
- Elliott, Anna;
- Seal, Sheila;
- Lunter, Gerton;
- Rahman, Nazneen
Publication type:
Article
Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients.
Published in:
Scientific Reports, 2016, p. 29506, doi. 10.1038/srep29506
By:
- George, Angela;
- Riddell, Daniel;
- Seal, Sheila;
- Talukdar, Sabrina;
- Mahamdallie, Shazia;
- Ruark, Elise;
- Cloke, Victoria;
- Slade, Ingrid;
- Kemp, Zoe;
- Gore, Martin;
- Strydom, Ann;
- Banerjee, Susana;
- Hanson, Helen;
- Rahman, Nazneen
Publication type:
Article
Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers.
Published in:
JNCI Cancer Spectrum, 2019, v. 3, n. 2, p. N.PAG, doi. 10.1093/jncics/pkz028
By:
- Yost, Shawn;
- Ruark, Elise;
- Alexandrov, Ludmil B;
- Rahman, Nazneen
Publication type:
Article
Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer.
Published in:
2012
By:
- Snape, Katie;
- Ruark, Elise;
- Tarpey, Patrick;
- Renwick, Anthony;
- Turnbull, Clare;
- Seal, Sheila;
- Murray, Anne;
- Hanks, Sandra;
- Douglas, Jenny;
- Stratton, Michael;
- Rahman, Nazneen
Publication type:
Report
Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.
Published in:
Nature Communications, 2014, v. 5, n. 8, p. 4398, doi. 10.1038/ncomms5398
By:
- Hanks, Sandra;
- Perdeaux, Elizabeth R.;
- Seal, Sheila;
- Ruark, Elise;
- Mahamdallie, Shazia S.;
- Murray, Anne;
- Ramsay, Emma;
- Del Vecchio Duarte, Silvana;
- Zachariou, Anna;
- de Souza, Bianca;
- Warren-Perry, Margaret;
- Elliott, Anna;
- Davidson, Alan;
- Price, Helen;
- Stiller, Charles;
- Pritchard-Jones, Kathy;
- Rahman, Nazneen
Publication type:
Article
Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 9, p. 1578, doi. 10.1093/hmg/ddy424
By:
- Loveday, Chey;
- Tatton-Brown, Katrina;
- Clarke, Matthew;
- Westwood, Isaac;
- Renwick, Anthony;
- Ramsay, Emma;
- Nemeth, Andrea;
- Campbell, Jennifer;
- Joss, Shelagh;
- Gardner, McKinlay;
- Zachariou, Anna;
- Elliott, Anna;
- Ruark, Elise;
- Montfort, Rob van;
- Rahman, Nazneen
Publication type:
Article
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 17, p. 4775, doi. 10.1093/hmg/ddv182
By:
- Loveday, Chey;
- Tatton-Brown, Katrina;
- Clarke, Matthew;
- Westwood, Isaac;
- Renwick, Anthony;
- Ramsay, Emma;
- Nemeth, Andrea;
- Campbell, Jennifer;
- Joss, Shelagh;
- Gardner, McKinlay;
- Zachariou, Anna;
- Elliott, Anna;
- Ruark, Elise;
- van Montfort, Rob;
- Rahman, Nazneen
Publication type:
Article
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
Published in:
Nature, 2013, v. 493, n. 7432, p. 406, doi. 10.1038/nature11725
By:
- Ruark, Elise;
- Snape, Katie;
- Humburg, Peter;
- Loveday, Chey;
- Bajrami, Ilirjana;
- Brough, Rachel;
- Rodrigues, Daniel Nava;
- Renwick, Anthony;
- Seal, Sheila;
- Ramsay, Emma;
- Duarte, Silvana Del Vecchio;
- Rivas, Manuel A.;
- Warren-Perry, Margaret;
- Zachariou, Anna;
- Campion-Flora, Adriana;
- Hanks, Sandra;
- Murray, Anne;
- Pour, Naser Ansari;
- Douglas, Jenny;
- Gregory, Lorna
Publication type:
Article
CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting.
Published in:
Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0195-6
By:
- Münz, Márton;
- Ruark, Elise;
- Renwick, Anthony;
- Ramsay, Emma;
- Clarke, Matthew;
- Mahamdallie, Shazia;
- Cloke, Victoria;
- Seal, Sheila;
- Strydom, Ann;
- Lunter, Gerton;
- Rahman, Nazneen
Publication type:
Article

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