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Science Translational Medicine, ISSN 1946-6234, 2016, Volume 8, Issue 328, pp. 328ra30 - 328ra30
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
by Carss, Keren J and Carss, Keren and Arno, Gavin and Erwood, Marie and Stephens, Jonathan and Sanchis-Juan, Alba and Hull, Sarah and Megy, Karyn and Grozeva, Detelina and Dewhurst, Eleanor and Malka, Samantha and Plagnol, Vincent and Penkett, Christopher J and Penkett, Christopher and Stirrups, Kathleen and Rizzo, Roberta and Wright, Genevieve and Josifova, Dragana and Bitner-Glindzicz, Maria and Scott, Richard H and Scott, Richard and Clement, Emma and Allen, Hana Lango and Allen, Louise and Armstrong, Ruth and Brady, Angela F and Brady, Angie and Carmichael, Jenny and Chitre, Manali and Henderson, Robert H.H and Henderson, Robert and Hurst, Jane and MacLaren, Robert E and MacLaren, Robert and Murphy, Elaine and Paterson, Joan and Rosser, Elisabeth and Thompson, Dorothy A and Thompson, Dorothy and Wakeling, Emma and Ouwehand, Willem H and Michaelides, Michel and Moore, Anthony and Moore, Anthony T and Aitman, Timothy and Alachkar, Hana and Ali, Sonia and Allsup, David and Ambegaonkar, Gautum and Anderson, Julie and Antrobus, Richard and Arumugakani, Gururaj and Ashford, Sofie and Astle, William and Attwood, Antony and Austin, Steve and Bacchelli, Chiara and Bakchoul, Tamam and Bariana, Tadbir K and Baxendale, Helen and Bennett, David and Bethune, Claire and Bibi, Shahnaz and Bleda, Marta and Boggard, Harm and Bolton-Maggs, Paula and Booth, Claire and Bradley, John R and Brown, Matthew and Browning, Michael and Bryson, Christine and Burns, Siobhan and Calleja, Paul and Canham, Natalie and Caulfield, Mark and Chalmers, Elizabeth and Chandra, Anita and Chinnery, Patrick and Church, Colin and Clements-Brod, Naomi and Clowes, Virginia and Coghlan, Gerry and Collins, Peter and Cooper, Nichola and Creaser-Myers, Amanda and DaCosta, Rosa and Daugherty, Louise and Davies, Sophie and Davis, John and De Vries, Minka and Deegan, Patrick and Deevi, Sri V.V and Deshpande, Charu and Devlin, Lisa and Doffinger, Rainer and Dormand, Natalie and Drewe, Elizabeth and Edgar, David and Egner, William and Erber, Wendy N and ... and NIHR-BioResource Rare Dis and NIHR-BioResource Rare Diseases Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, pp. 75 - 90
Journal Article
by Ito, Yoko and Carss, Keren J and Duarte, Sofia T and Hartley, Taila and Keren, Boris and Kurian, Manju A and Marey, Isabelle and Charles, Perinne and Mendonça, Carla and Nava, Caroline and Pfundt, Rolph and Sanchis-Juan, Alba and van Bokhoven, Hans and van Essen, Anthony and van Ravenswaaij-Arts, Conny and Aitman, Timothy and Bennett, David and Caulfield, Mark and Chinnery, Patrick and Gale, Daniel and Koziell, Ania and Kuijpers, Taco W and Laffan, Michael A and Maher, Eamonn and Markus, Hugh S and Morrell, Nicholas W and Ouwehand, Willem H and Perry, David J and Raymond, F. Lucy and Roberts, Irene and Smith, Kenneth G.C and Thrasher, Adrian and Watkins, Hugh and Williamson, Catherine and Woods, Geoffrey and Ashford, Sofie and Bradley, John R and Fletcher, Debra and Hammerton, Tracey and James, Roger and Kingston, Nathalie and Penkett, Christopher J and Stirrups, Kathleen and Veltman, Marijke and Young, Tim and Brown, Matthew and Clements-Brod, Naomi and Davis, John and Dewhurst, Eleanor and Dolling, Helen and Erwood, Marie and Frary, Amy and Linger, Rachel and Martin, Jennifer M and Papadia, Sofia and Rehnstrom, Karola and Stark, Hannah and Allsup, David and Austin, Steve and Bakchoul, Tamam and Bariana, Tadbir K and Bolton-Maggs, Paula and Chalmers, Elizabeth and Collins, Janine and Collins, Peter and Erber, Wendy N and Everington, Tamara and Favier, Remi and Freson, Kathleen and Furie, Bruce and Gattens, Michael and Gebhart, Johanna and Gomez, Keith and Greene, Daniel and Greinacher, Andreas and Gresele, Paolo and Hart, Daniel and Heemskerk, Johan W.M and Henskens, Yvonne and Kazmi, Rashid and Keeling, David and Kelly, Anne M and Lambert, Michele P and Lentaigne, Claire and Liesner, Ri and Makris, Mike and Mangles, Sarah and Mathias, Mary and Millar, Carolyn M and Mumford, Andrew and Nurden, Paquita and Payne, Jeanette and Pasi, John and Peerlinck, Kathelijne and Revel-Vilk, Shoshana and Richards, Michael and Rondina, Matthew and Roughley, Catherine and Schulman, Sol and Schulze, Harald and ... and Care4Rare Canada Consortium and NIHR BioResource
The American Journal of Human Genetics, ISSN 0002-9297, 07/2018, Volume 103, Issue 1, pp. 144 - 153
Next-generation sequencing has been invaluable in the elucidation of the genetic etiology of many subtypes of intellectual disability in recent years. Here,... 
actin cytoskeleton | recurrent de novo truncating mutations | neurodevelopmental disorder | lamellipodia | seizures | developmental delay | WASF1 | autism | WAVE1 complex | WAVE | COMPLEX | PROTEIN | GENES | GENETICS & HEREDITY | DISORDERS | EXCHANGE | PLASTICITY | Physiological aspects | Genetic aspects | Research | Gene mutations | Mental retardation | Risk factors | Index Medicus | Report
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