OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis

Por Ruark, Elise, Münz, Márton, Clarke, Matthew, Renwick, Anthony, Ramsay, Emma, Elliott, Anna, Seal, Sheila, Lunter, Gerton, Rahman, Nazneen
Publicado no Sci Rep (2016)

The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis

Por Ruark, Elise, Renwick, Anthony, Clarke, Matthew, Snape, Katie, Ramsay, Emma, Elliott, Anna, Hanks, Sandra, Strydom, Ann, Seal, Sheila, Rahman, Nazneen
Publicado no F1000Res (2018)

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting

Por Münz, Márton, Ruark, Elise, Renwick, Anthony, Ramsay, Emma, Clarke, Matthew, Mahamdallie, Shazia, Cloke, Victoria, Seal, Sheila, Strydom, Ann, Lunter, Gerton, Rahman, Nazneen
Publicado no Genome Med (2015)

Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer

Por Snape, Katie, Ruark, Elise, Tarpey, Patrick, Renwick, Anthony, Turnbull, Clare, Seal, Sheila, Murray, Anne, Hanks, Sandra, Douglas, Jenny, Stratton, Michael R., Rahman, Nazneen
Publicado em 2012

The ICR1000 UK exome series: a resource of gene variation in an outbred population

Por Ruark, Elise, Münz, Márton, Renwick, Anthony, Clarke, Matthew, Ramsay, Emma, Hanks, Sandra, Mahamdallie, Shazia, Elliott, Anna, Seal, Sheila, Strydom, Ann, Gerton, Lunter, Rahman, Nazneen
Publicado no F1000Res (2015)

Mutation and association analysis of GEN1 in breast cancer susceptibility

Por Turnbull, Clare, Hines, Sarah, Renwick, Anthony, Hughes, Deborah, Pernet, David, Elliott, Anna, Seal, Sheila, Warren-Perry, Margaret, Evans, D. Gareth, Eccles, Diana, Stratton, Michael R., Rahman, Nazneen
Publicado em 2010

Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients

Por 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
Publicado no Sci Rep (2016)

Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours

Por Litchfield, Kevin, Summersgill, Brenda, Yost, Shawn, Sultana, Razvan, Labreche, Karim, Dudakia, Darshna, Renwick, Anthony, Seal, Sheila, Al-Saadi, Reem, Broderick, Peter, Turner, Nicholas C., Houlston, Richard S., Huddart, Robert, Shipley, Janet, Turnbull, Clare
Publicado no Nat Commun (2015)

Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer

Por Turnbull, Clare, Rapley, Elizabeth A., Seal, Sheila, Pernet, David, Renwick, Anthony, Hughes, Deborah, Ricketts, Michelle, Linger, Rachel, Nsengimana, Jeremie, Deloukas, Panagiotis, Huddart, Robert A., Bishop, D Timothy, Easton, Douglas F., Stratton, Michael R., Rahman, Nazneen
Publicado em 2010

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

Por Rahman, Nazneen, Seal, Sheila, Thompson, Deborah, Kelly, Patrick, Renwick, Anthony, Elliott, Anna, Reid, Sarah, Spanova, Katarina, Barfoot, Rita, Chagtai, Tasnim, Jayatilake, Hiran, McGuffog, Lesley, Hanks, Sandra, Evans, D Gareth, Eccles, Diana, Easton, Douglas F, Stratton, Michael R
Publicado em 2006

A genome-wide association study of testicular germ cell tumor

Por Rapley, Elizabeth A, Turnbull, Clare, Olama, Ali Amin Al, Dermitzakis, Emmanouil T, Linger, Rachel, Huddart, Robert A, Renwick, Anthony, Hughes, Deborah, Hines, Sarah, Seal, Sheila, Morrison, Jonathan, Nsengimana, Jeremie, Deloukas, Panagiotis, Rahman, Nazneen, Bishop, D Timothy, Easton, Douglas F, Stratton, Michael R
Publicado em 2009

Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour

Por 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
Publicado em 2014

Variants in CHEK2 Other than 1100delC Do Not Make a Major Contribution to Breast Cancer Susceptibility

Por Schutte, Mieke, Seal, Sheila, Barfoot, Rita, Meijers-Heijboer, Hanne, Wasielewski, Marijke, Evans, D. Gareth, Eccles, Diana, Meijers, Carel, Lohman, Frans, Klijn, Jan, van den Ouweland, Ans, Futreal, P. Andrew, Nathanson, Katherine L., Weber, Barbara L., Easton, Douglas F., Stratton, Michael R., Rahman, Nazneen
Publicado em 2003

A Multicenter Study of Cancer Incidence in CHEK2 1100delC Mutation Carriers

Por Thompson, Deborah, Seal, Sheila, Schutte, Mieke, McGuffog, Lesley, Barfoot, Rita, Renwick, Anthony, Eeles, Rosalind, Sodha, Nayanta, Houlston, Richard, Shanley, Susan, Klijn, Jan, Wasielewski, Marijke, Chang-Claude, Jenny, Futreal, P. Andrew, Weber, Barbara L., Nathanson, Katherine L., Stratton, Michael, Meijers-Heijboer, Hanne, Rahman, Nazneen, Easton, Douglas F.
Publicado em 2006

Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14

Por 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
Publicado em 2013

Multi-stage genome-wide association study identifies new susceptibility locus for testicular germ cell tumour on chromosome 3q25

Por Litchfield, Kevin, Sultana, Razvan, Renwick, Anthony, Dudakia, Darshna, Seal, Sheila, Ramsay, Emma, Powell, Silvana, Elliott, Anna, Warren-Perry, Margaret, Eeles, Rosalind, Peto, Julian, Kote-Jarai, Zsofia, Muir, Kenneth, Nsengimana, Jeremie, Stratton, Michael R., Easton, Douglas F., Bishop, D. Timothy, Huddart, Robert A., Rahman, Nazneen, Turnbull, Clare
Publicado no Hum Mol Genet (2015)

Mutations in the DNA methyltransferase gene, DNMT3A, cause an overgrowth syndrome with intellectual disability

Por 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, Yachelevich, Naomi, van Montfort, Robert, Rahman, Nazneen
Publicado em 2014

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Por Tatton-Brown, Katrina, Hanks, Sandra, Ruark, Elise, Zachariou, Anna, Duarte, Silvana Del Vecchio, Ramsay, Emma, Snape, Katie, Murray, Anne, Perdeaux, Elizabeth R, Seal, Sheila, Loveday, Chey, Banka, Siddharth, Clericuzio, Carol, Flinter, Frances, Magee, Alex, McConnell, Vivienne, Patton, Michael, Raith, Wolfgang, Rankin, Julia, Splitt, Miranda, Strenger, Volker, Taylor, Clare, Wheeler, Patricia, Temple, I Karen, Cole, Trevor, Douglas, Jenny, Rahman, Nazneen
Publicado em 2011

Genome-wide association study identifies five new breast cancer susceptibility loci

Por Turnbull, Clare, Ahmed, Shahana, Morrison, Jonathan, Pernet, David, Renwick, Anthony, Maranian, Mel, Seal, Sheila, Ghoussaini, Maya, Hines, Sarah, Healey, Catherine S, Hughes, Deborah, Warren-Perry, Margaret, Tapper, William, Eccles, Diana, Evans, D Gareth, Hooning, Maartje, Schutte, Mieke, van den Ouweland, Ans, Houlston, Richard, Ross, Gillian, Langford, Cordelia, Pharoah, Paul D P, Stratton, Michael R, Dunning, Alison M, Rahman, Nazneen, Easton, Douglas F
Publicado em 2010

A genome-wide association study identifies susceptibility loci for Wilms tumor

Por Turnbull, Clare, Perdeaux, Elizabeth, Pernet, David, Naranjo, Arlene, Renwick, Anthony, Seal, Sheila, Xicola, Rosa Maria Munoz, 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, Neefjes, Veronica, Nicholdson, James, Picton, Susan, Pizer, Barry, Ronghe, Milind, Stevens, Michael, Traunecker, Heidi, Stiller, Charles A, Pritchard-Jones, Kathy, Dome, Jeffrey, Grundy, Paul, Rahman, Nazneen
Publicado em 2012