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Lancet, The, ISSN 0140-6736, 2011, Volume 378, Issue 9809, pp. 2081 - 2087
Journal Article
Lancet Oncology, The, ISSN 1470-2045, 2012, Volume 13, Issue 12, pp. 1242 - 1249
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
Europace, ISSN 1099-5129, 2016, Volume 18, Issue 6, pp. 888 - 896
Journal Article
by Antoniou, Antonis C and Kartsonaki, Christiana and Sinilnikova, Olga M and Soucy, Penny and McGuffog, Lesley and Healey, Sue and Lee, Anew and Peterlongo, Paolo and Manoukian, Siranoush and Peissel, Bernard and Zaffaroni, Daniela and Cattaneo, Elisa and Barile, Monica and Pensotti, Valeria and Pasini, Barbara and Dolcetti, Riccardo and Giannini, Giuseppe and Putignano, Anna Laura and Varesco, Liliana and Radice, Paolo and Mai, Phuong L and Greene, Mark H and Anulis, Irene L and Glendon, Gord and Ozcelik, Hilmi and Thomassen, Mads and Gerdes, Anne-Marie and Kruse, Torben A and Birk Jensen, Uffe and Crüger, Dorthe G and Caligo, Maria A and Laitman, Yael and Milgrom, Roni and Kaufman, Bella and Paluch-Shimon, Shani and Friedman, Eitan and Loman, Niklas and Harbst, Katja and Lindblom, Annika and Arver, Brita and Ehrencrona, Hans and Melin, Beatrice and Nathanson, Katherine L and Domchek, Susan M and Rebbeck, Timothy and Jakubowska, Ania and Lubinski, Jan and Gronwald, Jacek and Huzarski, Tomasz and Byrski, Tomasz and Cybulski, Cezary and Gorski, Bohdan and Osorio, Ana and Ramón Y Cajal, Teresa and Fostira, Florentia and Anés, Raquel and Benitez, Javier and Hamann, Ute and Hogervorst, Frans B and Rookus, Matti A and Hooning, Maartje J and Nelen, Marcel R and van der Luijt, Rob B and van Os, Theo A. M and van Asperen, Christi J and Devilee, Peter and Meijers-Heijboer, Hanne E. J and Gómez Garcia, Encarna B and Peock, Susan and Cook, Margaret and Frost, Debra and Platte, Radka and Leyland, Jean and Evans, D. Gareth and Lalloo, Fiona and Eeles, Ros and Izatt, Louise and Adlard, Julian and Davidson, Rosemarie and Eccles, Diana and Ong, Kai-Ren and Cook, Jackie and Douglas, Fiona and Paterson, Joan and Kennedy, M. John and Miedzybrodzka, Zosia and Godwin, Anew and Stoppa-Lyonnet, Dominique and Buecher, Bruno and Belotti, Muriel and Tirapo, Carole and Mazoyer, Sylvie and Barjhoux, Laure and Lasset, Christine and Leroux, Dominique and Faivre, Laurence and Bronner, Myriam and Prieur, Fabienne and Nogues, Catherine and Rouleau, Etienne and ... and kConFab Investigators and EMBRACE and CEMO Study Collaborators and CIMBA and HEBON and Breast Canc Family Registry and SWE-BRCA and Breast Cancer Family Registry and kConFab investigators and on behalf of CIMBA and Medicinska fakulteten and Institutionen för strålningsvetenskaper and Onkologi and Umeå universitet
Human molecular genetics, ISSN 0964-6906, 2011, Volume 20, Issue 16, pp. 3304 - 3321
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/2018, Volume 55, Issue 6, pp. 384 - 394
Journal Article
by O’Donnell-Luria, Anne H and Pais, Lynn S and Faundes, Víctor and Wood, Jordan C and Sveden, Abigail and Luria, Victor and Abou Jamra, Rami and Accogli, Andrea and Amburgey, Kimberly and Anderlid, Britt Marie and Azzarello-Burri, Silvia and Basinger, Alice A and Bianchini, Claudia and Bird, Lynne M and Buchert, Rebecca and Carre, Wilfrid and Ceulemans, Sophia and Charles, Perrine and Cox, Helen and Culliton, Lisa and Currò, Aurora 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, Elizabeth and Jones, Philip and Jones, Wendy D and King, Daniel 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 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, Lisa and Brady, Angela 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, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D’Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and de Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and ... and Deciphering Developmental Disorders (DDD) Study
The American Journal of Human Genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1210 - 1222
We delineate a -related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in (28... 
KMT2E | epilepsy | H3K4 methylation | global developmental delay | neurodevelopmental disorder | intellectual disability | epileptic encephalopathy | autism
Journal Article