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1.

Genome sequencing and analysis of the Tasmanian devil and its transmissible cancer.

Murchison, Elizabeth P; Schulz-Trieglaff, Ole B; Ning, Zemin; Alexandrov, Ludmil B; Bauer, Markus J; Fu, Beiyuan; Hims, Matthew; Ding, Zhihao; Ivakhno, Sergii; Stewart, Caitlin; Ng, Bee Ling; Wong, Wendy; Aken, Bronwen; White, Simon; Alsop, Amber; Becq, Jennifer; Bignell, Graham R; Cheetham, R Keira; Cheng, William; Connor, Thomas R; Cox, Anthony J; Feng, Zhi-Ping; Gu, Yong; Grocock, Russell J; Harris, Simon R; Khrebtukova, Irina; Kingsbury, Zoya; Kowarsky, Mark; Kreiss, Alexandre; Luo, Shujun; Marshall, John; McBride, David J; Murray, Lisa; Pearse, Anne-Maree; Raine, Keiran; Rasolonjatovo, Isabelle; Shaw, Richard; Tedder, Philip; Tregidgo, Carolyn; Vilella, Albert J; Wedge, David C; Woods, Gregory M; Gormley, Niall; Humphray, Sean; Schroth, Gary; Smith, Geoffrey; Hall, Kevin; Searle, Stephen M J; Carter, Nigel P; Papenfuss, Anthony T.

Cell ; 148(4): 780-91, 2012 Feb 17.

Article in English | MEDLINE | ID: mdl-22341448

2.

Massive genomic rearrangement acquired in a single catastrophic event during cancer development.

Stephens, Philip J; Greenman, Chris D; Fu, Beiyuan; Yang, Fengtang; Bignell, Graham R; Mudie, Laura J; Pleasance, Erin D; Lau, King Wai; Beare, David; Stebbings, Lucy A; McLaren, Stuart; Lin, Meng-Lay; McBride, David J; Varela, Ignacio; Nik-Zainal, Serena; Leroy, Catherine; Jia, Mingming; Menzies, Andrew; Butler, Adam P; Teague, Jon W; Quail, Michael A; Burton, John; Swerdlow, Harold; Carter, Nigel P; Morsberger, Laura A; Iacobuzio-Donahue, Christine; Follows, George A; Green, Anthony R; Flanagan, Adrienne M; Stratton, Michael R; Futreal, P Andrew; Campbell, Peter J.

Cell ; 144(1): 27-40, 2011 Jan 07.

Article in English | MEDLINE | ID: mdl-21215367

3.

Genetic basis of Y-linked hearing impairment.

Wang, Qiuju; Xue, Yali; Zhang, Yujun; Long, Quan; Yang, Fengtang; Turner, Daniel J; Fitzgerald, Tomas; Ng, Bee Ling; Zhao, Yali; Chen, Yuan; Liu, Qingjie; Yang, Weiyan; Han, Dongyi; Quail, Michael A; Swerdlow, Harold; Burton, John; Fahey, Ciara; Ning, Zemin; Hurles, Matthew E; Carter, Nigel P; Yang, Huanming; Tyler-Smith, Chris.

Am J Hum Genet ; 92(2): 301-6, 2013 Feb 07.

Article in English | MEDLINE | ID: mdl-23352258

4.

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.

Wright, Caroline F; Fitzgerald, Tomas W; Jones, Wendy D; Clayton, Stephen; McRae, Jeremy F; van Kogelenberg, Margriet; King, Daniel A; Ambridge, Kirsty; Barrett, Daniel M; Bayzetinova, Tanya; Bevan, A Paul; Bragin, Eugene; Chatzimichali, Eleni A; Gribble, Susan; Jones, Philip; Krishnappa, Netravathi; Mason, Laura E; Miller, Ray; Morley, Katherine I; Parthiban, Vijaya; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Swaminathan, G Jawahar; Tivey, Adrian R; Middleton, Anna; Parker, Michael; Carter, Nigel P; Barrett, Jeffrey C; Hurles, Matthew E; FitzPatrick, David R; Firth, Helen V.

Lancet ; 385(9975): 1305-14, 2015 Apr 04.

Article in English | MEDLINE | ID: mdl-25529582

5.

Origins and functional impact of copy number variation in the human genome.

Conrad, Donald F; Pinto, Dalila; Redon, Richard; Feuk, Lars; Gokcumen, Omer; Zhang, Yujun; Aerts, Jan; Andrews, T Daniel; Barnes, Chris; Campbell, Peter; Fitzgerald, Tomas; Hu, Min; Ihm, Chun Hwa; Kristiansson, Kati; Macarthur, Daniel G; Macdonald, Jeffrey R; Onyiah, Ifejinelo; Pang, Andy Wing Chun; Robson, Sam; Stirrups, Kathy; Valsesia, Armand; Walter, Klaudia; Wei, John; Tyler-Smith, Chris; Carter, Nigel P; Lee, Charles; Scherer, Stephen W; Hurles, Matthew E.

Nature ; 464(7289): 704-12, 2010 Apr 01.

Article in English | MEDLINE | ID: mdl-19812545

6.

Methods and strategies for analyzing copy number variation using DNA microarrays.

Carter, Nigel P.

Nat Genet ; 39(7 Suppl): S16-21, 2007 Jul.

Article in English | MEDLINE | ID: mdl-17597776

7.

Challenges and standards in integrating surveys of structural variation.

Scherer, Stephen W; Lee, Charles; Birney, Ewan; Altshuler, David M; Eichler, Evan E; Carter, Nigel P; Hurles, Matthew E; Feuk, Lars.

Nat Genet ; 39(7 Suppl): S7-15, 2007 Jul.

Article in English | MEDLINE | ID: mdl-17597783

8.

Prepublication data sharing.

Birney, Ewan; Hudson, Thomas J; Green, Eric D; Gunter, Chris; Eddy, Sean; Rogers, Jane; Harris, Jennifer R; Ehrlich, S Dusko; Apweiler, Rolf; Austin, Christopher P; Berglund, Lisa; Bobrow, Martin; Bountra, Chas; Brookes, Anthony J; Cambon-Thomsen, Anne; Carter, Nigel P; Chisholm, Rex L; Contreras, Jorge L; Cooke, Robert M; Crosby, William L; Dewar, Ken; Durbin, Richard; Dyke, Stephanie O M; Ecker, Joseph R; El Emam, Khaled; Feuk, Lars; Gabriel, Stacey B; Gallacher, John; Gelbart, William M; Granell, Antoni; Guarner, Francisco; Hubbard, Tim; Jackson, Scott A; Jennings, Jennifer L; Joly, Yann; Jones, Steven M; Kaye, Jane; Kennedy, Karen L; Knoppers, Bartha Maria; Kyrpides, Nikos C; Lowrance, William W; Luo, Jingchu; MacKay, John J; Martín-Rivera, Luis; McCombie, W Richard; McPherson, John D; Miller, Linda; Miller, Webb; Moerman, Don; Mooser, Vincent.

Nature ; 461(7261): 168-70, 2009 Sep 10.

Article in English | MEDLINE | ID: mdl-19741685

9.

A high-resolution survey of deletion polymorphism in the human genome.

Conrad, Donald F; Andrews, T Daniel; Carter, Nigel P; Hurles, Matthew E; Pritchard, Jonathan K.

Nat Genet ; 38(1): 75-81, 2006 Jan.

Article in English | MEDLINE | ID: mdl-16327808

10.

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.

Shaw-Smith, Charles; Pittman, Alan M; Willatt, Lionel; Martin, Howard; Rickman, Lisa; Gribble, Susan; Curley, Rebecca; Cumming, Sally; Dunn, Carolyn; Kalaitzopoulos, Dimitrios; Porter, Keith; Prigmore, Elena; Krepischi-Santos, Ana C V; Varela, Monica C; Koiffmann, Celia P; Lees, Andrew J; Rosenberg, Carla; Firth, Helen V; de Silva, Rohan; Carter, Nigel P.

Nat Genet ; 38(9): 1032-7, 2006 Sep.

Article in English | MEDLINE | ID: mdl-16906163

11.

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.

Swaminathan, Ganesh J; Bragin, Eugene; Chatzimichali, Eleni A; Corpas, Manuel; Bevan, A Paul; Wright, Caroline F; Carter, Nigel P; Hurles, Matthew E; Firth, Helen V.

Hum Mol Genet ; 21(R1): R37-44, 2012 Oct 15.

Article in English | MEDLINE | ID: mdl-22962312

12.

FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.

Koumbaris, George; Hatzisevastou-Loukidou, Hariklia; Alexandrou, Angelos; Ioannides, Marios; Christodoulou, Christodoulos; Fitzgerald, Tomas; Rajan, Diana; Clayton, Stephen; Kitsiou-Tzeli, Sophia; Vermeesch, Joris R; Skordis, Nicos; Antoniou, Pavlos; Kurg, Ants; Georgiou, Ioannis; Carter, Nigel P; Patsalis, Philippos C.

Hum Mol Genet ; 20(10): 1925-36, 2011 May 15.

Article in English | MEDLINE | ID: mdl-21349920

13.

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.

Malan, Valérie; Rajan, Diana; Thomas, Sophie; Shaw, Adam C; Louis Dit Picard, Hélène; Layet, Valérie; Till, Marianne; van Haeringen, Arie; Mortier, Geert; Nampoothiri, Sheela; Puseljic, Silvija; Legeai-Mallet, Laurence; Carter, Nigel P; Vekemans, Michel; Munnich, Arnold; Hennekam, Raoul C; Colleaux, Laurence; Cormier-Daire, Valérie.

Am J Hum Genet ; 87(2): 189-98, 2010 Aug 13.

Article in English | MEDLINE | ID: mdl-20673863

14.

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller, David T; Adam, Margaret P; Aradhya, Swaroop; Biesecker, Leslie G; Brothman, Arthur R; Carter, Nigel P; Church, Deanna M; Crolla, John A; Eichler, Evan E; Epstein, Charles J; Faucett, W Andrew; Feuk, Lars; Friedman, Jan M; Hamosh, Ada; Jackson, Laird; Kaminsky, Erin B; Kok, Klaas; Krantz, Ian D; Kuhn, Robert M; Lee, Charles; Ostell, James M; Rosenberg, Carla; Scherer, Stephen W; Spinner, Nancy B; Stavropoulos, Dimitri J; Tepperberg, James H; Thorland, Erik C; Vermeesch, Joris R; Waggoner, Darrel J; Watson, Michael S; Martin, Christa Lese; Ledbetter, David H.

Am J Hum Genet ; 86(5): 749-64, 2010 May 14.

Article in English | MEDLINE | ID: mdl-20466091

15.

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.

Birney, Ewan; Stamatoyannopoulos, John A; Dutta, Anindya; Guigó, Roderic; Gingeras, Thomas R; Margulies, Elliott H; Weng, Zhiping; Snyder, Michael; Dermitzakis, Emmanouil T; Thurman, Robert E; Kuehn, Michael S; Taylor, Christopher M; Neph, Shane; Koch, Christoph M; Asthana, Saurabh; Malhotra, Ankit; Adzhubei, Ivan; Greenbaum, Jason A; Andrews, Robert M; Flicek, Paul; Boyle, Patrick J; Cao, Hua; Carter, Nigel P; Clelland, Gayle K; Davis, Sean; Day, Nathan; Dhami, Pawandeep; Dillon, Shane C; Dorschner, Michael O; Fiegler, Heike; Giresi, Paul G; Goldy, Jeff; Hawrylycz, Michael; Haydock, Andrew; Humbert, Richard; James, Keith D; Johnson, Brett E; Johnson, Ericka M; Frum, Tristan T; Rosenzweig, Elizabeth R; Karnani, Neerja; Lee, Kirsten; Lefebvre, Gregory C; Navas, Patrick A; Neri, Fidencio; Parker, Stephen C J; Sabo, Peter J; Sandstrom, Richard; Shafer, Anthony; Vetrie, David.

Nature ; 447(7146): 799-816, 2007 Jun 14.

Article in English | MEDLINE | ID: mdl-17571346

16.

As normal as normal can be?

Carter, Nigel P.

Nat Genet ; 36(9): 931-2, 2004 Sep.

Article in English | MEDLINE | ID: mdl-15340426

17.

Diagnostic interpretation of array data using public databases and internet sources.

de Leeuw, Nicole; Dijkhuizen, Trijnie; Hehir-Kwa, Jayne Y; Carter, Nigel P; Feuk, Lars; Firth, Helen V; Kuhn, Robert M; Ledbetter, David H; Martin, Christa Lese; van Ravenswaaij-Arts, Conny M A; Scherer, Steven W; Shams, Soheil; Van Vooren, Steven; Sijmons, Rolf; Swertz, Morris; Hastings, Ros.

Hum Mutat ; 33(6): 930-40, 2012 Jun.

Article in English | MEDLINE | ID: mdl-26285306

18.

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

Firth, Helen V; Richards, Shola M; Bevan, A Paul; Clayton, Stephen; Corpas, Manuel; Rajan, Diana; Van Vooren, Steven; Moreau, Yves; Pettett, Roger M; Carter, Nigel P.

Am J Hum Genet ; 84(4): 524-33, 2009 Apr.

Article in English | MEDLINE | ID: mdl-19344873

19.

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.

Stankiewicz, Pawel; Sen, Partha; Bhatt, Samarth S; Storer, Mekayla; Xia, Zhilian; Bejjani, Bassem A; Ou, Zhishuo; Wiszniewska, Joanna; Driscoll, Daniel J; Maisenbacher, Melissa K; Bolivar, Juan; Bauer, Mislen; Zackai, Elaine H; McDonald-McGinn, Donna; Nowaczyk, Malgorzata M J; Murray, Mitzi; Hustead, Virginia; Mascotti, Kristin; Schultz, Regina; Hallam, Lavinia; McRae, Duncan; Nicholson, Andrew G; Newbury, Robert; Durham-O'Donnell, Jane; Knight, Gail; Kini, Usha; Shaikh, Tamim H; Martin, Vicki; Tyreman, Matthew; Simonic, Ingrid; Willatt, Lionel; Paterson, Joan; Mehta, Sarju; Rajan, Diana; Fitzgerald, Tomas; Gribble, Susan; Prigmore, Elena; Patel, Ankita; Shaffer, Lisa G; Carter, Nigel P; Cheung, Sau Wai; Langston, Claire; Shaw-Smith, Charles.

Am J Hum Genet ; 84(6): 780-91, 2009 Jun.

Article in English | MEDLINE | ID: mdl-19500772

20.

aCGH.Spline--an R package for aCGH dye bias normalization.

Fitzgerald, Tomas W; Larcombe, Lee D; Le Scouarnec, Solena; Clayton, Stephen; Rajan, Diana; Carter, Nigel P; Redon, Richard.

Bioinformatics ; 27(9): 1195-200, 2011 May 01.

Article in English | MEDLINE | ID: mdl-21357574

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