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The American Journal of Human Genetics, ISSN 0002-9297, 04/2014, Volume 94, Issue 4, pp. 574 - 585
Journal Article
by Rainger, Joe and Rainger, Jacqueline K and Pehlivan, Davut and Johansson, Stefan and Bengani, Hemant and Sanchez-Pulido, Luis and Williamson, Kathleen A and Ture, Mehmet and Barker, Heather and Rosendahl, Karen and Spranger, Jürgen and Horn, Denise and Meynert, Alison and Floyd, Jamie and Floyd, James A.B and Prescott, Trine and Anderson, Carl and Anderson, Carl A and Karaca, Ender and Gonzaga-Jauregui, Claudia and Jhangiani, Shalini and Muzny, Donna M and Seawright, Anne and Soares, Dinesh C and Kharbanda, Mira and Murday, Victoria and Finch, Andrew and Hurles, Matthew E and Hurles, Matthew and FitzPatrick, David R and FitzPatrick, David R and Al-Turki, Saeed and Barroso, Inês and Beales, Philip and Bentham, Jamie and Bhattacharya, Shoumo and Carss, Keren and Chatterjee, Krishna and Cirak, Sebhattin and Cosgrove, Catherine and Daly, Allan and Franklin, Chris and Futema, Marta and Humphries, Steve and McCarthy, Shane and Mitchison, Hannah and Muntoni, Francesco and Onoufriadis, Alexandros and Parker, Victoria and Payne, Felicity and Plagnol, Vincent and Raymond, Lucy and Savage, David and Scambler, Peter and Schmidts, Miriam and Semple, Robert and Serra, Eva and Stalker, Jim and van Kogelenberg, Margriet and Vijayarangakannan, Parthiban and Walter, Klaudia and Wood, Gretta and Gibbs, Richard A and van Heyningen, Veronica and Taylor, Martin S and Yakut, Tahsin and Knappskog, Per M and Ponting, Chris P and Lupski, James R and Houge, Gunnar and UK10K and Baylor-Hopkins Ctr Mendelian Genom and Baylor-Hopkins Center for Mendelian Genomics
The American Journal of Human Genetics, ISSN 0002-9297, 06/2014, Volume 94, Issue 6, pp. 915 - 923
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2013, Volume 50, Issue 5, pp. 309 - 323
Journal Article
by Taylor, Peter N and Porcu, Eleonora and Chew, Shelby and Campbell, Purdey J and Traglia, Michela and Brown, Suzanne J and Mullin, Benjamin H and Shihab, Hashem A and Min, Josine and Walter, Klaudia and Memari, Yasin and Huang, Jie and Barnes, Michael R and Beilby, John P and Charoen, Pimphen and Danecek, Petr and Dudbridge, Frank and Forgetta, Vincenzo and Greenwood, Celia and Grundberg, Elin and Johnson, Andrew D and Hui, Jennie and Lim, Ee M and McCarthy, Shane and Muddyman, Dawn and Panicker, Vijay and Perry, John R. B and Bell, Jordana T and Yuan, Wei and Relton, Caroline and Gaunt, Tom and Schlessinger, David and Abecasis, Goncalo and Cucca, Francesco and Surdulescu, Gabriela L and Woltersdorf, Wolfram and Zeggini, Eleftheria and Zheng, Hou-Feng and Toniolo, Daniela and Dayan, Colin M and Naitza, Silvia and Walsh, John P and Spector, Tim and Smith, George Davey and Durbin, Richard and Richards, J. Brent and Sanna, Serena and Soranzo, Nicole and Timpson, Nicholas J and Wilson, Scott G and Turki, Saeed Al and Anderson, Carl and Anney, Richard and Antony, Dinu and Artigas, Maria Soler and Ayub, Muhammad and Balasubramaniam, 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 and Bounds, Rebecca and Boustred, Chris and Breen, Gerome and Calissano, Mattia and Carss, Keren and Chatterjee, Krishna and Chen, Lu and Ciampi, Antonio and Cirak, Sebhattin and Clapham, Peter and Clement, Gail and Coates, Guy 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-Williams, Aaron and Day, Ian N. M and Down, Thomas and Du, Yuanping and Dunham, Ian and Edkins, Sarah and Ellis, Peter and Evans, David and Faroogi, Sadaf and Fatemifar, Ghazaleh and Fitzpatrick, David R and Flicek, Paul and Flyod, James and ... and UK10K Consortium and UK0K Consortium and The UK10K Consortium
Nature Communications, ISSN 2041-1723, 2015, Volume 6, Issue 1, p. 5681
Journal Article
by Timpson, Nicholas J and Walter, Klaudia and Min, Josine L and Tachmazidou, Ioanna and Malerba, Giovanni and Shin, So-Youn and Chen, Lu and Futema, Marta and Southam, Lorraine and Iotchkova, Valentina and Cocca, Massimiliano and Huang, Jie and Memari, Yasin and McCarthy, Shane and Danecek, Petr and Muddyman, Dawn and Mangino, Massimo and Menni, Cristina and Perry, John R.B and Ring, Susan M and Gaye, Amadou and Dedoussis, George and Farmaki, Aliki-Eleni and Burton, Paul and Talmud, Philippa J and Gambaro, Giovanni and Spector, Tim D and Smith, George Davey and Durbin, Richard and Richards, J Brent and Humphries, Steve E and Zeggini, Eleftheria and Soranzo, Nicole and Turki, Saeed Al and Anderson, Carl and Anney, Richard and Antony, Dinu and Artigas, Maria Soler and Ayub, Muhammad and Balasubramaniam, Senduran and Barrett, Jeffrey C and Barroso, Iněs and Beales, Phil and Bentham, Jamie and Bhattacharya, Shoumo and Birney, Ewan and Blackwood, Douglas and Bobrow, Martin and Bochukova, Elena and Bolton, Patrick and Bounds, Rebecca and Boustred, Chris and Breen, Gerome and Calissano, Mattia and Carss, Keren and Chatterjee, Krishna and Ciampi, Antonio and Cirak, Sebhattin and Clapham, Peter and Clement, Gail and Coates, Guy 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-Williams, Aaron and Day, Ian N.M and Down, Thomas and Du, Yuanping and Dunham, Ian and Edkins, Sarah and Ellis, Peter and Evans, David and Faroogi, Sadaf and Fatemifar, Ghazaleh and Fitzpatrick, David R and Flicek, Paul and Flyod, James and Foley, A. Reghan and Franklin, Christopher S and Gallagher, Louise and Gaunt, Tom and Geihs, Matthias and Geschwind, Daniel and Greenwood, Celia and Griffin, Heather and Grozeva, Detelina and Guo, Xueqin and Guo, Xiaosen and Gurling, Hugh and Hart, Deborah and Hendricks, Audrey and Holmans, Peter and Howie, Bryan and Huang, Liren and Hubbard, Tim and ... and UK10K Consortium and UK1OK Consortium Members and UK1OK consortium members
Nature Communications, ISSN 2041-1723, 2014, Volume 5, Issue 1, p. 4871
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
Journal Article