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

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)

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth

Por 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
Publicado no Hum Mol Genet (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

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

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)

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

Gene–gene interactions in breast cancer susceptibility

Por Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Warren-Perry, Margaret, Hughes, Deborah, Elliott, Anna, Pernet, David, Peock, Susan, Adlard, Julian W., Barwell, Julian, Berg, Jonathan, Brady, Angela F., Brewer, Carole, Brice, Glen, Chapman, Cyril, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Douglas, Fiona, Greenhalgh, Lynn, Henderson, Alex, Izatt, Louise, Kumar, Ajith, Lalloo, Fiona, Miedzybrodzka, Zosia, Morrison, Patrick J, Paterson, Joan, Porteous, Mary, Rogers, Mark T., Shanley, Susan, Walker, Lisa, Ahmed, Munaza, Eccles, Diana, Evans, D. Gareth, Donnelly, Peter, Easton, Douglas F., Stratton, Michael R., Rahman, Nazneen
Publicado em 2012

Germline mutations in RAD51D confer susceptibility to ovarian cancer

Por 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, Douglas, Fiona, Greenhalgh, Lynn, Henderson, Alex, Izatt, Louise, Kumar, Ajith, Lalloo, Fiona, Miedzybrodzka, Zosia, Morrison, Patrick J, Paterson, Joan, Porteous, Mary, Rogers, Mark T., Shanley, Susan, Walker, Lisa, Eccles, Diana, Evans, D. Gareth, Renwick, Anthony, Seal, Sheila, Lord, Christopher J, Ashworth, Alan, Reis-Filho, Jorge S, Antoniou, Antonis C, Rahman, Nazneen
Publicado no Nat Genet (2011)

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

Por 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, Rimmer, Andrew, Walker, Neil M., Yang, Tsun-Po, Adlard, Julian W., Barwell, Julian, Berg, Jonathan, Brady, Angela F., Brewer, Carole, Brice, Glen, Chapman, Cyril, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Douglas, Fiona, Eccles, Diana, Evans, D. Gareth, Greenhalgh, Lynn, Henderson, Alex, Izatt, Louise, Kumar, Ajith, Lalloo, Fiona, Miedzybrodzka, Zosia, Morrison, Patrick J., Paterson, Joan, Porteous, Mary, Rogers, Mark T., Shanley, Susan, Walker, Lisa, Gore, Martin, Houlston, Richard, Brown, Matthew A., Caufield, Mark J., Deloukas, Panagiotis, McCarthy, Mark I., Todd, John A., Turnbull, Clare, Reis-Filho, Jorge S., Ashworth, Alan, Antoniou, Antonis C., Lord, Christopher J., Donnelly, Peter, Rahman, Nazneen
Publicado em 2012

Risk of Estrogen Receptor–Positive and –Negative Breast Cancer and Single–Nucleotide Polymorphism 2q35-rs13387042

Por Milne, Roger L., Benítez, Javier, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomäki, Kristiina, Blomqvist, Carl, Arias, José Ignacio, Zamora, M. Pilar, Burwinkel, Barbara, Bartram, Claus R., Meindl, Alfons, Schmutzler, Rita K., Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm W. R., Southey, Melissa C., Smith, Letitia, Spurdle, Amanda B., Hopper, John L., Couch, Fergus J., Olson, Janet E., Wang, Xianshu, Fredericksen, Zachary, Schürmann, Peter, Bremer, Michael, Hillemanns, Peter, Dörk, Thilo, Devilee, Peter, van Asperen, Christie J., Tollenaar, Rob A. E. M., Seynaeve, Caroline, Hall, Per, Czene, Kamila, Liu, Jianjun, Li, Yuqing, Ahmed, Shahana, Dunning, Alison M., Maranian, Melanie, Pharoah, Paul D. P., Chenevix-Trench, Georgia, Beesley, Jonathan, Bogdanova, Natalia V., Antonenkova, Natalia N., Zalutsky, Iosif V., Anton-Culver, Hoda, Ziogas, Argyrios, Brauch, Hiltrud, Justenhoven, Christina, Ko, Yon-Dschun, Haas, Susanne, Fasching, Peter A., Strick, Reiner, Ekici, Arif B., Beckmann, Matthias W., Giles, Graham G., Severi, Gianluca, Baglietto, Laura, English, Dallas R., Fletcher, Olivia, Johnson, Nichola, dos Santos Silva, Isabel, Peto, Julian, Turnbull, Clare, Hines, Sarah, Renwick, Anthony, Rahman, Nazneen, Nordestgaard, Børge G., Bojesen, Stig E., Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, García-Closas, Montserrat, Chanock, Stephen, Lissowska, Jolanta, Brinton, Louise A., Chang-Claude, Jenny, Wang-Gohrke, Shan, Shen, Chen-Yang, Wang, Hui-Chun, Yu, Jyh-Cherng, Chen, Sou-Tong, Bermisheva, Marina, Nikolaeva, Tatjana, Khusnutdinova, Elza, Humphreys, Manjeet K., Morrison, Jonathan, Platte, Radka, Easton, Douglas F.
Publicado em 2009

Exploring the link between MORF4L1 and risk of breast cancer

Por Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Lázaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, Evans, D Gareth, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Chen, Xiaoqing, Beesley, Jonathan, Rookus, Matti A, Verhoef, Senno, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, van Os, Theo A, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Wang, Xianshu, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Janavicius, Ramunas, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, de Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Ferrer, Sandra Fert, Collonge-Rame, Marie-Agnès, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, Pujana, Miguel Angel
Publicado em 2011