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Whole-genome sequencing of patients with rare diseases in a national health system.

E. Turro, W. Astle, K. Megy, S. Gräf, D. Greene, O. Shamardina, H. Allen, A. Sanchis-Juan, M. Frontini, C. Thys, J. Stephens, R. Mapeta, O. Burren, K. Downes, M. Haimel, S. Tuna, S. Deevi, T. Aitman, D. Bennett, P. Calleja, K. Carss, M. Caulfield, P. Chinnery, P. Dixon, D. Gale, R. James, A. Koziell, M. Laffan, A. Levine, E. Maher, H. Markus, J. Morales, N. Morrell, A. Mumford, E. Ormondroyd, S. Rankin, A. Rendon, S. Richardson, I. Roberts, N. Roy, M. Saleem, K. Smith, H. Stark, R. Tan, A. Themistocleous, A. Thrasher, H. Watkins, A. Webster, M. Wilkins, C. Williamson, J. Whitworth, S. Humphray, D. Bentley, S. Abbs, L. Abulhoul, J. Adlard, M. Ahmed, H. Alachkar, D. Allsup, J. Almeida-King, P. Ancliff, R. Antrobus, R. Armstrong, G. Arno, S. Ashford, A. Attwood, P. Aurora, C. Babbs, C. Bacchelli, T. Bakchoul, S. Banka, T. Bariana, J. Barwell, J. Batista, H. Baxendale, P. Beales, A. Bierzynska, T. Biss, M. Bitner-Glindzicz, G. Black, M. Bleda, I. Blesneac, D. Bockenhauer, H. Bogaard, C. Bourne, S. Boyce, J. Bradley, E. Bragin, G. Breen, P. Brennan, C. Brewer, M. Brown, A. Browning, M. Browning, R. Buchan, M. Buckland, T. Bueser, C. Diz, J. Burn, S. Burns, N. Burrows, C. Campbell, G. Carr-White, R. Casey, J. Chambers, J. Chambers, M. Chan, C. Cheah, F. Cheng, M. Chitre, M. Christian, C. Church, J. Clayton-Smith, M. Cleary, N. Brod, G. Coghlan, E. Colby, T. Cole, J. Collins, P. Collins, C. Colombo, C. Compton, R. Condliffe, S. Cook, H. Cook, N. Cooper, P. Corris, A. Furnell, F. Cunningham, N. Curry, A. Cutler, M. Daniels, M. Dattani, L. Daugherty, J. Davis, A. Soyza, T. Dent, C. Deshpande, E. Dewhurst, S. Douzgou, A. Drazyk, E. Drewe, D. Duarte, T. Dutt, J. Edgar, K. Edwards, W. Egner, M. Ekani, P. Elliott, W. Erber, M. Erwood, M. Estiu, D. Evans, G. Evans, T. Everington, M. Eyries, H. Fassihi, R. Favier, J. Findhammer, D. Fletcher, F. Flinter, R. Floto, T. Fowler, J. Fox, A. Frary, C. French, K. Freson, H. Gall, V. Ganesan, M. Gattens, C. Geoghegan, T. Gerighty, A. Gharavi, S. Ghio, H. Ghofrani, J. Gibbs, K. Gibson, K. Gilmour, B. Girerd, N. Gleadall, S. Goddard, D. Goldstein, K. Gomez, P. Gordins, D. Gosal, J. Graham, L. Grassi, L. Greenhalgh, A. Greinacher, P. Gresele, P. Griffiths, S. Grigoriadou, R. Grocock, D. Grozeva, M. Gurnell, S. Hackett, C. Hadinnapola, W. Hague, R. Hague, M. Hall, H. Hanson, E. Haque, K. Harkness, A. Harper, C. Harris, D. Hart, A. Hassan, G. Hayman, A. Henderson, A. Herwadkar, J. Hoffman, S. Holden, R. Horvath, H. Houlden, A. Houweling, L. Howard, F. Hu, G. Hudson, J. Hughes, A. Huissoon, M. Humbert, S. Hunter, M. Hurles, M. Irving, L. Izatt, S. Johnson, S. Jolles, J. Jolley, D. Josifova, N. Jurkute, T. Karten, J. Karten, M. Kasanicki, H. Kazkaz, R. Kazmi, P. Kelleher, A. Kelly, W. Kelsall, C. Kempster, D. Kiely, N. Kingston, R. Klima, N. Koelling, M. Kostadima, G. Kovacs, R. Kreuzhuber, T. Kuijpers, A. Kumar, D. Kumararatne, M. Kurian, F. Lalloo, M. Lambert, A. Lawrie, D. Layton, N. Lench, C. Lentaigne, T. Lester, R. Linger, H. Longhurst, L. Lorenzo, E. Louka, P. Lyons, R. Machado, R. Ross, B. Madan, J. Maimaris, S. Malka, S. Mangles, K. Marchbank, S. Marks, H. Marschall, A. Marshall, J. Martin, M. Mathias, E. Matthews, H. Maxwell, P. McAlinden, M. McCarthy, H. McKinney, A. McMahon, S. Meacham, A. Mead, I. Castello, S. Mehta, M. Michaelides, C. Millar, S. Mohammed, S. Moledina, D. Montani, A. Moore, M. Mozere, K. Muir, A. Nemeth, W. Newman, M. Newnham, S. Noorani, P. Nurden, J. O'Sullivan, S. Obaji, C. Odhams, S. Okoli, A. Olschewski, H. Olschewski, K. Ong, S. Oram, W. Ouwehand, C. Palles, S. Papadia, S. Park, D. Parry, S. Patel, J. Paterson, A. Peacock, S. Pearce, J. Peden, K. Peerlinck, C. Penkett, J. Pepke-Zaba, R. Petersen, C. Pilkington, K. Poole, R. Prathalingam, B. Psaila, A. Pyle, R. Quinton, S. Rahman, A. Rao, F. Raymond, P. Rayner-Matthews, C. Rees, T. Renton, C. Rhodes, A. Rice, A. Richter, L. Robert, A. Rogers, S. Rose, R. Ross-Russell, C. Roughley, D. Ruddy, O. Sadeghi-Alavijeh, N. Samani, C. Samarghitean, R. Sargur, R. Sarkany, S. Satchell, S. Savic, J. Sayer, G. Sayer, L. Scelsi, A. Schaefer, S. Schulman, R. Scott, M. Scully, C. Searle, W. Seeger, A. Sen, W. Sewell, D. Seyres, N. Shah, S. Shapiro, A. Shaw, P. Short, K. Sibson, L. Side, I. Simeoni, M. Simpson, M. Sims, S. Sivapalaratnam, D. Smedley, K. Smith, K. Snape, N. Soranzo, F. Soubrier, L. Southgate, O. Spasic-Boskovic, S. Staines, E. Staples, C. Steward, K. Stirrups, A. Stuckey, J. Suntharalingam, E. Swietlik, P. Syrris, R. Tait, K. Talks, K. Tate, J. Taylor, J. Taylor, J. Thaventhiran, E. Thomas, D. Thomas, M. Thomas, P. Thomas, K. Thomson, G. Threadgold, T. Tilly, M. Tischkowitz, C. Titterton, J. Todd, C. Toh, B. Tolhuis, I. Tomlinson, M. Toshner, M. Traylor, C. Treacy, P. Treadaway, R. Trembath, W. Turek, P. Twiss, T. Vale, C. Geet, N. van Zuydam, M. Vandekuilen, A. Vandersteen, M. Vazquez-Lopez, J. von Ziegenweidt, A. Vonk-Noordegraaf, A. Wagner, Q. Waisfisz, S. Walker, N. Walker, K. Walter, J. Ware, C. Watt, L. Wedderburn, W. Wei, S. Welch, J. Wessels, S. Westbury, J. Westwood, J. Wharton, D. Whitehorn, A. Wilkie, B. Wilson, E. Wong, N. Wood, Y. Wood, C. Woods, E. Woodward, S. Wort, A. Worth, M. Wright, K. Yates, P. Yong, T. Young, P. Yu, P. Yu-Wai-Man, and E. Zlamalova. Nat., 583 (7814): 96-102 (2020)

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Fiona Pachl

Fiona Ewald

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Fiona Bromiley

Fiona Hamann

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Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriersA. Antoniou, O. Sinilnikova, L. McGuffog, S. Healey, H. Nevanlinna, T. Heikkinen, J. Simard, A. Spurdle, J. Beesley, X. Chen and 127 other author(s). Human molecular genetics, 18 (22): 4442–4456 (2009)Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriersA. Antoniou, K. Kuchenbaecker, P. Soucy, J. Beesley, X. Chen, L. McGuffog, A. Lee, D. Barrowdale, S. Healey, O. Sinilnikova and 171 other author(s). Breast cancer research : BCR, 14 (1): R33 (2012)Whole-genome sequencing of patients with rare diseases in a national health system.E. Turro, W. Astle, K. Megy, S. Gräf, D. Greene, O. Shamardina, H. Allen, A. Sanchis-Juan, M. Frontini, C. Thys and 439 other author(s). Nat., 583 (7814): 96-102 (2020)Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2A. Mulligan, F. Couch, D. Barrowdale, S. Domchek, D. Eccles, H. Nevanlinna, S. Ramus, M. Robson, M. Sherman, A. Spurdle and 172 other author(s). Breast cancer research : BCR, 13 (6): R110 (2011)Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriersL. Walker, Z. Fredericksen, X. Wang, R. Tarrell, V. Pankratz, N. Lindor, J. Beesley, S. Healey, X. Chen, D. Stoppa-Lyonnet and 63 other author(s). Breast cancer research : BCR, 12 (6): R102 (2010)Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriersA. Antoniou, C. Kartsonaki, O. Sinilnikova, P. Soucy, L. McGuffog, S. Healey, A. Lee, P. Peterlongo, S. Manoukian, B. Peissel and 169 other author(s). Human molecular genetics, 20 (16): 3304–3321 (2011)Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriersS. Ramus, A. Antoniou, K. Kuchenbaecker, P. Soucy, J. Beesley, X. Chen, L. McGuffog, O. Sinilnikova, S. Healey, D. Barrowdale and 176 other author(s). Human mutation, 33 (4): 690–702 (2012)Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European expertsVasen, Hans F A, I. Blanco, K. Aktan-Collan, J. Gopie, A. Alonso, S. Aretz, I. Bernstein, L. Bertario, J. Burn, G. Capella and 26 other author(s). Gut, 62 (6): 812–823 (2013)Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk predictionA. Antoniou, J. Beesley, L. McGuffog, O. Sinilnikova, S. Healey, S. Neuhausen, Y. Ding, T. Rebbeck, J. Weitzel, H. Lynch and 168 other author(s). Cancer research, 70 (23): 9742–9754 (2010)

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Disambiguation of "Lalloo, Fiona"

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Whole-genome sequencing of patients with rare diseases in a national health system.

Please choose a person to relate this publication to

Fiona Pachl

Fiona Ewald

Fiona Pohlmann

Fiona Bromiley

Fiona Hamann

Other publications of authors with the same name

Disambiguation

BibSonomy

Disambiguation of "Lalloo, Fiona"

copydeleteadd this publication to your clipboardcommunity posthistory of this postURLDOIBibTeXEndNoteAPAChicagoDIN 1505HarvardMSOffice XML Whole-genome sequencing of patients with rare diseases in a national health system.

Please choose a person to relate this publication to

Fiona Pachl

Fiona Ewald

Fiona Pohlmann

Fiona Bromiley

Fiona Hamann

Other publications of authors with the same name

Disambiguation

copy delete add this publication to your clipboard
community post
history of this post
URL
DOI
BibTeX
EndNote
APA
Chicago
DIN 1505
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MSOffice XML

Whole-genome sequencing of patients with rare diseases in a national health system.