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by Fitzgerald, T.W and Gerety, S.S and Jones, W.D and Van Kogelenberg, M and King, D.A and McRae, J and Morley, K.I and Parthiban, V and Al-Turki, S and Ambridge, K and Barrett, D.M and Bayzetinova, T and Clayton, S and Coomber, E.L and Gribble, S and Jones, P and Krishnappa, N and Mason, L.E and Middleton, A and Miller, R and Prigmore, E and Rajan, D and Sifrim, A and Tivey, A.R and Ahmed, M and Akawi, N and Andrews, R and Anjum, U and Archer, H and Armstrong, R and Balasubramanian, M and Banerjee, R and Baralle, D and Batstone, P and Baty, D and Bennett, C and Berg, J and Bernhard, B and Bevan, A.P and Blair, E and Blyth, M and Bohanna, D and Bourdon, L and Bourn, D and Brady, A and Bragin, E and Brewer, C and Brueton, L and Brunstrom, K and Bumpstead, S.J and Bunyan, D.J and Burn, J and Burton, J and Canham, N and Castle, B and Chandler, K and Clasper, S and Clayton-Smith, J and Cole, T and Collins, A and Collinson, M.N and Connell, F and Cooper, N and Cox, H and Cresswell, L and Cross, G and Crow, Y and D'Alessandro, M and Dabir, T and Davidson, R and Davies, S and Dean, J and Deshpande, C and Devlin, G and Dixit, A and Dominiczak, A and Donnelly, C and Donnelly, D and Douglas, A and Duncan, A and Eason, J and Edkins, S and Ellard, S and Ellis, P and Elmslie, F and Evans, K and Everest, S and Fendick, T and Fisher, R and Flinter, F and Foulds, N and Fryer, A and Fu, B and Gardiner, C and Gaunt, L and Ghali, N and Gibbons, R and Gomes Pereira, S.L and Goodship, J and Goudie, D and ... and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study and The Deciphering Developmental Disorders Study
Nature (London), ISSN 0028-0836, 03/2015, Volume 519, Issue 7542, pp. 223 - 228
Journal Article
by Thornhill, A and Wheat, S and Al-Shenar, S and Atalla, N and Menabawey, M and Summers, M and Giles, J and Vidal, C and Alama, P and Bosch, E and Zuzuarregui, J. L and Pellicer, A and Nelen, W. L. D. M and den Breejen, E. M. E and Schol, S. F. E and Kremer, J. A. M and Hermens, R. P. M. G and Nagai, R and Fukunaga, N and Kitasaka, H and Yoshimura, T and Itoi, F and Tamura, F and Kitamura, K and Hasegawa, N and Kato, M and Nakayama, K and Honma, H and Oguri, H and Sano, M and Hashiba, Y and Asada, Y and Galama, W. H and Willemsen, W. N and Lashwood, A and Solomonides, A and Olive, M and Harton, G and Patch, C and Flinter, F and Mendoza, R and Perez, S and de los Santos, M. J and Larreategui, Z and Exposito, A and Aparicio, M. V and Martinez Indart, L and Matorras, R and Sato, Y and Nakamura, Y and Sakamoto, E and Tasaka, A and Usui, K and Hattori, H and Ito, Y and Nakajo, Y and Doshida, M and Kyono, K and Koike, A and Haruki, A and Horiuchi, R and Sugihara, K and Fukuda, A and Morimoto, Y and Cambiaghi, A and Leao, R and Castellotti, D and Nascimento, P and Molina Gonzalez, I and Clavero Gilabert, A and Gonzalvo Lopez, M. C and Rosales Martinez, A and Martinez Navarro, L and Mozas Moreno, J and Castilla Alcala, J. A and Fleischer, K and Muller, A. F and Hohmann, F. P and de Jong, F. H and Eijkemans, M. J. C and Fauser, B. C and Laven, J. S. E and Bonduelle, M and Van Landuyt, L and Stoop, D and Van de Velde, H and Verheyen, G and Haentjens, P and Desmyttere, S and Carlos, R. V and Setti, A. S and Braga, D. P. A. F and Figueira, R. C. S and Iaconelli Jr, A and Borges Jr, E and Bariani, F and Vespasiano, F and Puoti, F and Fehily, D and Porta, E and ...
Human reproduction (Oxford), ISSN 0268-1161, 07/2011, Volume 26, Issue suppl_1, pp. i272 - i278
Journal Article
by Legendre, C and Cohen, D and Delmas, Y and Feldkamp, T and Fouque, D and Furman, R and Gaber, O and Greenbaum, L and Goodship, T and Haller, H and Herthelius, M and Hourmant, M and Licht, C and Moulin, B and Sheerin, N and Trivelli, A and Bedrosian, C. L and Loirat, C and Babu, S and Jungraithmayr, T and Lebranchu, Y and Riedl, M and Gaber, A. O and Bedrosian, C and Muus, P and Douglas, K and Remuzzi, G and Kourouklaris, A and Ioannou, K and Athanasiou, I and Demetriou, K and Panagidou, A and Zavros, M and Rodriguez C, N. Y and Blasco, M and Arcal, C and Quintana, L. F and Rodriguez de Cordoba, S and Campistol, J. M and Bachmann, N and Eisenberger, T and Decker, C and Bolz, H. J and Bergmann, C and Pesce, F and Cox, S. N and Serino, G and De Palma, G and Sallustio, F. P and Schena, F and Falchi, M and Pieri, M and Stefanou, C and Zaravinos, A and Erguler, K and Lapathitis, G and Dweep, H and Sticht, C and Anastasiadou, N and Zouvani, I and Voskarides, K and Gretz, N and Deltas, C. C and Ruiz, A and Bonny, O and Sallustio, F and Curci, C and Cox, S and Kemter, E and Sklenak, S and Aigner, B and Wanke, R and Kitzler, T. M and Moskowitz, J. L and Piret, S. E and Lhotta, K and Tashman, A and Velez, E and Thakker, R. V and Kotanko, P and Leierer, J and Rudnicki, M and Perco, P and Koppelstaetter, C and Mayer, G and Sa, M. J. N and Alves, S and Storey, H and Flinter, F and Willems, P. J and Carvalho, F and Oliveira, J and Arsali, M and Papazachariou, L and Demosthenous, P and Lazarou, A and Hadjigavriel, M and Stavrou, C and Yioukkas, L and Deltas, C and ...
Nephrology, dialysis, transplantation, ISSN 0931-0509, 05/2013, Volume 28, Issue suppl 1, pp. i309 - i321
Journal Article
by Carss, Keren J 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 and Stirrups, Kathleen and Rizzo, Roberta and Wright, Genevieve and Josifova, Dragana and Bitner-Glindzicz, Maria and Scott, Richard H and Clement, Emma and Allen, Louise and Armstrong, Ruth and Brady, Angela F and Carmichael, Jenny and Chitre, Manali and Henderson, Robert H.H and Hurst, Jane and MacLaren, Robert E and Murphy, Elaine and Paterson, Joan and Rosser, Elisabeth and Thompson, Dorothy A and Wakeling, Emma and Ouwehand, Willem H and Michaelides, Michel and Moore, Anthony T and Aitman, Timothy and Alachkar, Hana and Ali, Sonia and Allen, Louise and Allsup, David and Ambegaonkar, Gautum and Anderson, Julie and Antrobus, Richard and Armstrong, Ruth and Arno, Gavin 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 Bitner-Glindzicz, Maria and Bleda, Marta and Boggard, Harm and Bolton-Maggs, Paula and Booth, Claire and Bradley, John R and Brady, Angie and Brown, Matthew and Browning, Michael and Bryson, Christine and Burns, Siobhan and Calleja, Paul and Canham, Natalie and Carmichael, Jenny and Carss, Keren and Caulfield, Mark and Chalmers, Elizabeth and Chandra, Anita and Chinnery, Patrick and Chitre, Manali and Church, Colin and Clement, Emma 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 Dewhurst, Eleanor and Doffinger, Rainer and Dormand, Natalie and Drewe, Elizabeth and Edgar, David and Egner, William and ... and NIHR-BioResource Rare Diseases Consortium and NIHR-BioResource Rare Dis
American journal of human genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, pp. 75 - 90
Journal Article
by 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 Bayzetinova, Tanya 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 Cox, Helen 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 Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature (London), ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | Index Medicus | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article