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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 The Deciphering Developmental Disorders Study and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study
Nature (London), ISSN 1476-4687, 12/2014, Volume 519, Issue 7542, pp. 223 - 228
Journal Article
by Howe, Kerstin and Clark, Matthew D and Torroja, Carlos F and Torrance, James and Berthelot, Camille and Muffato, Matthieu and Collins, John E and Humphray, Sean and McLaren, Karen and Matthews, Lucy and McLaren, Stuart and Sealy, Ian and Caccamo, Mario and Churcher, Carol and Scott, Carol and Barrett, Jeffrey C and Koch, Romke and Rauch, Gerd-Jörg and White, Simon and Chow, William and Kilian, Britt and Quintais, Leonor T and Guerra-Assunção, José A and Zhou, Yi and Gu, Yong and Yen, Jennifer and Vogel, Jan-Hinnerk and Eyre, Tina and Redmond, Seth and Banerjee, Ruby and Chi, Jianxiang and Fu, Beiyuan and Langley, Elizabeth and Maguire, Sean F and Laird, Gavin K and Lloyd, David and Kenyon, Emma and Donaldson, Sarah and Sehra, Harminder and Almeida-King, Jeff and Loveland, Jane and Trevanion, Stephen and Jones, Matt and Quail, Mike and Willey, Dave and Hunt, Adrienne and Burton, John and Sims, Sarah and McLay, Kirsten and Plumb, Bob and Davis, Joy and Clee, Chris and Oliver, Karen and Clark, Richard and Riddle, Clare and Elliott, David and Threadgold, Glen and Harden, Glenn and Ware, Darren and Begum, Sharmin and Mortimore, Beverley and Kerry, Giselle and Heath, Paul and Phillimore, Benjamin and Tracey, Alan and Corby, Nicole and Dunn, Matthew and Johnson, Christopher and Wood, Jonathan and Clark, Susan and Pelan, Sarah and Griffiths, Guy and Smith, Michelle and Glithero, Rebecca and Howden, Philip and Barker, Nicholas and Lloyd, Christine and Stevens, Christopher and Harley, Joanna and Holt, Karen and Panagiotidis, Georgios and Lovell, Jamieson and Beasley, Helen and Henderson, Carl and Gordon, Daria and Auger, Katherine and Wright, Deborah and Collins, Joanna and Raisen, Claire and Dyer, Lauren and Leung, Kenric and Robertson, Lauren and Ambridge, Kirsty and Leongamornlert, Daniel and McGuire, Sarah and Gilderthorp, Ruth and Griffiths, Coline and Manthravadi, Deepa and Nichol, Sarah and Barker, Gary and ...
Nature (London), ISSN 1476-4687, 04/2013, Volume 496, Issue 7446, pp. 498 - 503
Journal Article
by Aitken, Stuart and Firth, Helen V and McRae, Jeremy and Halachev, Mihail and Kini, Usha and Parker, Michael J and Lees, Melissa M and Lachlan, Katherine and Sarkar, Ajoy and Joss, Shelagh and Splitt, Miranda and McKee, Shane and Németh, Andrea H and Scott, Richard H and Wright, Caroline F and Marsh, Joseph A and Hurles, Matthew E and FitzPatrick, David R and 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 Barelle, 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, P.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 ... and DDD Study
American journal of human genetics, ISSN 0002-9297, 11/2019, Volume 105, Issue 5, pp. 933 - 946
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 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 ... and Deciphering Developmental Disorders (DDD) Study and Deciphering Dev Disorders DDD
American journal of human genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1210 - 1222
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 1476-4687, 01/2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
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
by Birçek, Ece and Arthure, Susan and Yazdi, Leila P and Garazhian, Omran and Dezhamkhooy, Maryam and Bartsch, Ilona and Higham, Charles F. W and Higham, Charles F. W and Higham, Charles F. W and De Langhe, Edmond and Liu, Li and Fuller, Dorian Q and Weisskopf, Alison and Jensen, Anne M and Marcattili, Francesco and Marks, Murray K and Pulak, Cemal and Wilson, Christopher and Trümper, Monika and McCallum, Matthew and Carman, John and Bauer, Alexander A and Brown, Clifford T and Gepts, Paul and Hicks, Dan and Ziskowski, Angela and Appleton, John and Morey, Kirstie and Walker, William H and Schiffer, Michael Brian and Riggs, Kate E and Utrilla, Pilar and Sidebotham, Steven E and Klausmeier, Axel and Schmidt, Leo and Barton, Loukas and Singh, Manoj Kumar and Singh, Manoj Kumar and Kelly, Robert L and Wandsnider, LuAnn and Killgrove, Kristina and Ubelaker, Douglas H and Larsen, Clark Spencer and Pietrusewsky, Michael and Orton, David C and Wells, E. Christian and Martin, Fabiana María and Cormack, Julie L and Henshilwood, Christopher Stuart and van Niekerk, Karen Loise and Wegener, Corine and Tsetlin, Yuri B and Volkova, Helena V and Matos, Ramiro and Tykot, Robert H and Lam, Yin-Man and Mulhern, Dawn M and Backwell, Lucinda and d’Errico, Francesco and Kimmerle, Erin H and Katzenberg, M. Anne and Crowder, Christian M and Dominguez, Victoria M and Rapp Py-Daniel, Anne and Becker, Jeffrey A and Balme, Jane and Watson, Patty Jo and DeBlasis, Paulo and Bruno, Cristina and Symanski, Luís Cláudio Pereira and Zarankin, Andrés and Zerega, Nyree J. C and Ambridge, Lindsay and O’Keeffe, Tadhg and Tully, Caroline and Darvill, Timothy and Pitt, Robert K and Kingwell-Banham, Eleanor and