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by Walter, Klaudia and Min, Josine L and Huang, Jie and Crooks, Lucy and Memari, Yasin and McCarthy, Shane and Perry, John and Xu, Changjiang and Futema, Marta and Lawson, Daniel and Iotchkova, Valentina and Schiffels, Stephan and Henicks, Auey E and Danecek, Petr and Li, Rui and Floyd, James and Wain, Louise and Barroso, Inês and Humphries, Steve and Hurles, Matthew and Zeggini, Eleftheria and Barrett, Jeffrey C and Plagnol, Vincent and Richards, Brent and Greenwood, Celia and Timpson, Nicholas and Durbin, Richard and Bala, Senduran and Clapham, Peter and Coates, Guy and Cox, Tony and Daly, Allan and Du, Yuanping and Edkins, Ted and Ellis, Peter and Flicek, Paul and Guo, Xiaosen and Guo, Xueqin and Huang, Liren and Jackson, David K and Joyce, Chris and Keane, Thomas and Kolb-Kokocinski, Anja and Langford, Cordelia and Li, Yingrui and Liang, Jieqin and Lin, Hong and Liu, Ryan and Maslen, John and Muddyman, Dawn and Quail, Michael A and Stalker, Jim and Sun, Jianping and Tian, Jing and Wang, Guangbiao and Wang, Jun and Wang, Yu and Wong, Kim and Zhang, Pingbo and Birney, Ewan and Boustred, Chris and Chen, Lu and Clement, Gail and Cocca, Massimiliano and Smith, G.D and Day, Ian N.M and Day-Williams, Aaron and Down, Thomas and Dunham, David and Evans, David M and Gaunt, Tom and Geihs, Matthias and Hart, Deborah and Howie, Bryan and Hubbard, Tim and Hysi, Pirro and Jamshidi, Yalda and Karczewski, Konrad and Kemp, John and Lachance, Genevieve and Lek, Monkol and Lopes, Margarida and MacArthur, Daniel G and Marchini, Jonathan and Mangino, Massimo and Mathieson, Iain and Metrustry, Sarah and Moayyeri, Alireza and Northstone, Kate and Panoutsopoulou, Kalliope and Paternoster, Lavinia and Quaye, Lydia and Ring, Susan and Ritchie, Graham R.S and Shihab, Hashem A and Shin, So-Youn and Small, Kerrin and Artigas, M.S and Soranzo, Nicole and Southam, Lorraine and ... and UCLEB Consortium and UK10K Consortium and The UK10K Consortium
Nature: international weekly journal of science, ISSN 0028-0836, 10/2015, Volume 526, Issue 7571, pp. 82 - 89
Journal Article
by Ross, Mark T and Grafham, Darren V and Coffey, Alison J and Scherer, Steven and McLay, Kirsten and Muzny, Donna and Platzer, Matthias and Howell, Gareth R and Burrows, Christine and Bird, Christine P and Prankish, Adam and Lovell, Frances L and Howe, Kevin L and Ashurst, Jennifer L and Fulton, Robert S and Sudbrak, Ralf and Wen, Gaiping and Jones, Matthew C and Hurles, Matthew E and Andrews, T. Daniel and Scott, Carol E and Searle, Stephen and Ramser, Juliane and Whittaker, Adam and Deadman, Rebecca and Carter, Nigel P and Hunt, Sarah E and Chen, Rui and Cree, Andrew and Gunaratne, Preethi and Havlak, Paul and Hodgson, Anne and Metzker, Michael L and Richards, Stephen and Scott, Graham and Steffen, David and Sodergren, Erica and Wheeler, David A and Worley, Kim C and Alnscough, Rachael and Ambrose, Kerrie D and Ansari-Lari, M. Ali and Aradhya, Swaroop and Ashwell, Robert I. S and Babbage, Anne K and Bagguley, Claire L and Ballabio, Andrea and Banerjee, Ruby and Barker, Gary E and Barlow, Karen F and Barrett, Ian P and Bates, Karen N and Beare, David M and Beasley, Helen and Beasley, Oliver and Beck, Alfred and Bethel, Graeme and Blechschmidt, Karin and Brady, Nicola and Bray-Allen, Sarah and Bridgeman, Anne M and Brown, Andrew J and Brown, Mary J and Bonnin, David and Bruford, Elspeth A and Buhay, Christian and Burch, Paula and Burford, Deborah and Burgess, Joanne and Burrill, Wayne and Burton, John and Bye, Jackie M and Carder, Carol and Carrel, Laura and Chako, Joseph and Chapman, Joanne C and Chavez, Dean and Chen, Ellson and Chen, Guan and Chen, Yuan and Chen, Zhijian and Chinault, Craig and Ciccodicola, Alfredo and Clark, Sue Y and Clarke, Graham and Clee, Chris M and Clegg, Sheila and Clerc-Blankenburg, Kerstin and Clifford, Karen and Cobley, Vicky and Cole, Charlotte G and Conquer, Jen S and Corby, Nicole and Connor, Richard E and David, Robert and Davies, Joy and Davis, Clay and Davis, John and Delgado, Oliver and DeShazo, Denise and ...
Nature, ISSN 0028-0836, 03/2005, Volume 434, Issue 7031, pp. 325 - 337
Journal Article
by Huang, Jie and Howie, Bryan and McCarthy, Shane and Memari, Yasin and Walter, Klaudia and Min, Josine L and Danecek, Petr and Malerba, Giovanni and Trabetti, Elisabetta and Zheng, Hou-Feng and Gambaro, Giovanni and Richards, Brent and Durbin, Richard and Timpson, Nicholas and Marchini, Jonathan and Soranzo, Nicole and Al Turki, Saeed and Amuzu, Antoinette and Anderson, Carl and Anney, Richard and Antony, Dinu and Artigas, M.S and Ayub, Muhammad and Bala, Senduran and Barrett, Jeffrey and Barroso, Inês and Beales, Philip and Benn, Marianne and Bentham, Jamie and Bhattacharya, Shoumo and Birney, Ewan and Blackwood, Douglas and Bobrow, Martin and Bochukova, Elena and Bolton, Patrick F and Bounds, Rebecca and Boustred, Chris and Breen, Gerome and Calissano, Mattia and Carss, Keren and Casas, Juan Pablo and Chambers, John C and Charlton, Ruth and Chatterjee, Krishna and Chen, Lu and Ciampi, Antonio and Cirak, Sebahattin and Clapham, Peter and Clement, Gail and Coates, Guy and Cocca, Massimiliano and Collier, David and Cosgrove, Catherine and Cox, Tony and Craddock, Nick and Crooks, Lucy and Curran, Sarah and Curtis, David and Daly, Allan and Day, Ian N.M and Day-Williams, Aaron and Dedoussis, George and Down, Thomas and Du, Yuanping and Duijn, Cornelia and Dunham, Ian and Edkins, Ted and Ekong, Rosemary and Ellis, Peter and Evans, David and Farooqi, I. Sadaf and Fitzpatrick, David R and Flicek, Paul and Floyd, James and Foley, A. Reghan and Franklin, Christopher S and Futema, Marta and Gallagher, Louise and Gasparini, Paolo and Gaunt, Tom and Geihs, Matthias and Geschwind, Daniel and Greenwood, Celia and Griffin, Heather and Grozeva, Detelina and Guo, Xiaosen and Guo, Xueqin and Gurling, Hugh and Hart, Deborah and Henicks, Auey E and Holmans, Peter A and Huang, Liren and Hubbard, Tim and Humphries, Steve E and Hurles, Matthew and Hysi, Pirro and Iotchkova, Valentina and Isaacs, Aaron and Jackson, David K and Jamshidi, Yalda and ... and UK10K Consortium
Nature Communications, ISSN 2041-1723, 09/2015, Volume 6, Issue 1, p. 8111
textabstractImputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the... 
TWINSUK | GENOTYPE IMPUTATION | FORMAT | MULTIDISCIPLINARY SCIENCES
Journal Article
by Haworth, Simon and Shapland, Chin Yang and Hayward, Caroline and Prins, Bram P and Felix, Janine F and Medina-Gomez, Carolina and Rivadeneira, Fernando and Wang, Carol and Ahluwalia, Tarunveer S and Vrijheid, Martine and Guxens, Mònica and Sunyer, Jordi and Tachmazidou, Ioanna and Walter, Klaudia and Iotchkova, Valentina and Jackson, Andrew and Cleal, Louise and Huffmann, Jennifer and Min, Josine L and Sass, Lærke and Timmers, Paul R. H. J and Turki, Saeed Al and Anderson, Carl A and Anney, Richard and Antony, Dinu and Artigas, María Soler and Ayub, Muhammad and Bala, Senduran and Barrett, Jeffrey C and Barroso, Inês and Beales, Phil and Bentham, Jamie and Bhattacharya, Shoumo and Birney, Ewan and Blackwood, Douglas and Bobrow, Martin and Bochukova, Elena and Bolton, Patrick F and Bounds, Rebecca and Boustred, Chris and Breen, Gerome and Calissano, Mattia and Carss, Keren and Charlton, Ruth and Chatterjee, Krishna and Chen, Lu and Ciampi, Antonio and Cirak, Sebahattin and Clapham, Peter and Clement, Gail and Coates, Guy and Cocca, Massimiliano and Collier, David A and Cosgrove, Catherine and Cox, Tony and Craddock, Nick and Crooks, Lucy and Curran, Sarah and Curtis, David and Daly, Allan and Danecek, Petr and Day, Ian N. M and Day-Williams, Aaron and Dominiczak, Anna and Down, Thomas and Du, Yuanping and Dunham, Ian and Durbin, Richard and Edkins, Sarah and Ekong, Rosemary and Ellis, Peter and Evans, David M and Farooqi, I. Sadaf and Fitzpatrick, David R and Flicek, Paul and Floyd, James and Foley, A. Reghan and Franklin, Christopher S and Futema, Marta and Gallagher, Louise and Gaunt, Tom R and Geihs, Matthias and Geschwind, Daniel and Greenwood, Celia M. T and Griffin, Heather and Grozeva, Detelina and Guo, Xiaosen and Guo, Xueqin and Gurling, Hugh and Hart, Deborah and Hendricks, Audrey E and Holmans, Peter and Howie, Bryan and Huang, Jie and Huang, Liren and Hubbard, Tim and Humphries, Steve E and Hurles, Matthew E and Hysi, Pirro and Jackson, David K and ... and UK10K Consortium and UK10K consortium
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 357 - 16
Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The... 
COMMON VARIANTS | IMPUTATION | GWAS | MULTIDISCIPLINARY SCIENCES | GROWTH | GENETIC ARCHITECTURE | LD SCORE REGRESSION | WEIGHT | BRAIN | HERITABILITY | GENOME-WIDE ASSOCIATION | Head | p53 Protein | Genetic diversity | Frequency variation | Carriers | Gene frequency | Alleles | Frequency spectrum | Skull | Adults | Children | Genetic factors | Variation | Age | Marcadors bioquímics | Genoma humà
Journal Article
by Gorman, Kathleen M and Meyer, Esther and Grozeva, Detelina and Spinelli, Egidio and McTague, Amy and Sanchis-Juan, Alba and Carss, Keren and Carss, Keren J and Bryant, Emily and Reich, Adi and Schneider, Amy L and Pressler, Ronit M and Simpson, Michael A and Debelle, Geoff D and Wassmer, Evangeline and Morton, Jenny and Sieciechowicz, Diana and Jan-Kamsteeg, Eric and Paciorkowski, Alex R and King, Daniel and King, Mary D and Cross, J. Helen and Cross, Gareth and Poduri, Annapurna and Mefford, Heather C and Scheffer, Ingrid E and Haack, Tobias B and McCullagh, Gary and McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Barrett, Jeffrey C and Bayzetinova, Tanya and Jones, Philip and Jones, Elizabeth and Jones, Wendy D and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Bennett, David and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, John R and Bradley, Lisa and Brady, Angela and Brady, Angie and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Guy and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collins, Peter and Collinson, Morag N and Connell, Fiona and Cooper, Nichola and Cooper, Nicola and Cox, Tony and ... and NIHR BioResource and Deciphering Dev Disorders Study and UK10K Consortium and Deciphering Developmental Disorders Study
The American Journal of Human Genetics, ISSN 0002-9297, 05/2019, Volume 104, Issue 5, pp. 948 - 956
The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon.... 
epilepsy | CACNA1B | epilepsy-dyskinesia | developmental and epileptic encephalopathy (DEE) | ENCEPHALOPATHIES | CLASSIFICATION | DE-NOVO MUTATIONS | CALCIUM-CHANNELS | GENETICS & HEREDITY | MYOCLONUS-DYSTONIA | Report
Journal Article