The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing

af Mahamdallie, Shazia, Ruark, Elise, Holt, Esty, Poyastro-Pearson, Emma, Renwick, Anthony, Strydom, Ann, Seal, Sheila, Rahman, Nazneen
Udgivet i Wellcome Open Res (2018)

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

af Ruark, Elise, Münz, Márton, Clarke, Matthew, Renwick, Anthony, Ramsay, Emma, Elliott, Anna, Seal, Sheila, Lunter, Gerton, Rahman, Nazneen
Udgivet i Sci Rep (2016)

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series

af Ruark, Elise, Holt, Esty, Renwick, Anthony, Münz, Márton, Wakeling, Matthew, Ellard, Sian, Mahamdallie, Shazia, Yost, Shawn, Rahman, Nazneen
Udgivet i Wellcome Open Res (2018)

The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing  data quality assurance

af Mahamdallie, Shazia, Ruark, Elise, Yost, Shawn, Münz, Márton, Renwick, Anthony, Poyastro-Pearson, Emma, Strydom, Ann, Seal, Sheila, Rahman, Nazneen
Udgivet i Wellcome Open Res (2018)

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

af Ruark, Elise, Renwick, Anthony, Clarke, Matthew, Snape, Katie, Ramsay, Emma, Elliott, Anna, Hanks, Sandra, Strydom, Ann, Seal, Sheila, Rahman, Nazneen
Udgivet i F1000Res (2018)

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

af Münz, Márton, Ruark, Elise, Renwick, Anthony, Ramsay, Emma, Clarke, Matthew, Mahamdallie, Shazia, Cloke, Victoria, Seal, Sheila, Strydom, Ann, Lunter, Gerton, Rahman, Nazneen
Udgivet i Genome Med (2015)

The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data

af Mahamdallie, Shazia, Ruark, Elise, Yost, Shawn, Ramsay, Emma, Uddin, Imran, Wylie, Harriett, Elliott, Anna, Strydom, Ann, Renwick, Anthony, Seal, Sheila, Rahman, Nazneen
Udgivet i Wellcome Open Res (2017)

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

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

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

af Ruark, Elise, Münz, Márton, Renwick, Anthony, Clarke, Matthew, Ramsay, Emma, Hanks, Sandra, Mahamdallie, Shazia, Elliott, Anna, Seal, Sheila, Strydom, Ann, Gerton, Lunter, Rahman, Nazneen
Udgivet i F1000Res (2015)

Mutation and association analysis of GEN1 in breast cancer susceptibility

af 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
Udgivet 2010

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

af 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
Udgivet i Nat Commun (2015)

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

af 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
Udgivet i Hum Mol Genet (2015)

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

af 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
Udgivet i Hum Mol Genet (2019)

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

af 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
Udgivet 2010

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

af 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
Udgivet 2006

A genome-wide association study of testicular germ cell tumor

af 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
Udgivet 2009

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

af 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.
Udgivet 2006

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

af 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
Udgivet i Hum Mol Genet (2015)

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

af 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
Udgivet 2010

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

af 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
Udgivet 2012