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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 Faundes, Víctor and Newman, William G and Bernardini, Laura and Canham, Natalie and Clayton-Smith, Jill and Dallapiccola, Bruno and Davies, Sally J and Demos, Michelle K and Goldman, Amy and Gill, Harinder and Horton, Rachel and Kerr, Bronwyn and Kumar, Dhavendra and Lehman, Anna and McKee, Shane and Morton, Jenny and Parker, Michael J and Rankin, Julia and Robertson, Lisa and Temple, I. Karen and Banka, Siddharth and Adam, Shelin and du Souich, Christèle and Elliott, Alison M and Mwenifumbo, Jill and Nelson, Tanya N and van Karnebeek, Clara and Friedman, Jan M 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 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 Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan 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 ... and Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study and The Deciphering Developmental Disorders (DDD) Study and Clin Assessment Utility Sequencin and Deciphering Dev Disorders DD and Deciphering Developmental Disorders (DDD) Study
American journal of human genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 175 - 187
Journal Article
by Carbone, Marco and Sharp, Stephen J and Flack, Steve and Paximadas, Dimitrios and Spiess, Kelly and Adgey, Carolyn and Griffiths, Laura and Lim, Reyna and Trembling, Paul and Williamson, Kate and Wareham, Nick J and Aldersley, Mark and Bathgate, Andrew and Burroughs, Andrew K and Heneghan, Michael A and Neuberger, James M and Thorburn, Douglas and Hirschfield, Gideon M and Cordell, Heather J and Alexander, Graeme J and Jones, David E.J and Sandford, Richard N and Mells, George F and Jones, David and Kirby, John and Hirschfield, Gideon and Alexander, Graeme and Sandford, Richard and Taylor‐Robinson, Simon and Ch'ng, Chin Lye and Rahman, Mesbah and Yapp, Tom and Sturgess, Richard and Healey, Christopher and Czajkowski, Marek and Gunasekera, Anton and Gyawali, Pranab and Premchand, Purushothaman and Kapur, Kapil and Marley, Richard and Foster, Graham and Watson, Alan and Dias, Aruna and Subhani, Javaid and Harvey, Rory and McCorry, Roger and Ramanaden, David and Gasem, Jaber and Evans, Richard and Mathialahan, Thiriloganathan and Shorrock, Christopher and Lipscomb, George and Southern, Paul and Tibble, Jeremy and Gorard, David and Palegwala, Altaf and Jones, Susan and Dawwas, Mohamed and Dolwani, Sunil and Prince, Martin and Foxton, Matthew and Elphick, David and Mitchison, Harriet and Gooding, Ian and Karmo, Mazn and Saksena, Sushma and Mendall, Mike and Patel, Minesh and Ede, Roland and Austin, Andrew and Sayer, Joanna and Hankey, Lorraine and Hovell, Christopher and Fisher, Neil and Carter, Martyn and Koss, Konrad and Piotrowicz, Andrzej and Grimley, Charles and Neal, David and Lim, Guan and Levi, Sass and Ala, Aftab and Broad, Andrea and Saeed, Athar and Wood, Gordon and Brown, Jonathan and Wilkinson, Mark and Gordon, Harriet and Ramage, John and Ridpath, Jo and Ngatchu, Theodore and Grover, Bob and Shaukat, Syed and Shidrawi, Ray and Abouda, George and Ali, Faiz and Rees, Ian and Salam, Imroz and Narain, Mark and Brown, Ashley and ... and UK-PBC Consortium
Hepatology (Baltimore, Md.), ISSN 0270-9139, 03/2016, Volume 63, Issue 3, pp. 930 - 950
Journal Article
by Liu, Jimmy Z and Hov, Johannes Roksund and Folseraas, Trine and Ellinghaus, Eva and Rushbrook, Simon M and Doncheva, Nadezhda T and Andreassen, Ole A and Weersma, Rinse K and Weismüller, Tobias J and Eksteen, Bertus and Invernizzi, Pietro and Hirschfield, Gideon M and Gotthardt, Daniel Nils and Pares, Albert and Ellinghaus, David and Shah, Tejas and Juran, Brian D and Milkiewicz, Piotr and Rust, Christian and Schramm, Christoph and Müller, Tobias and Srivastava, Brijesh and Dalekos, Georgios and Nöthen, Markus M and Herms, Stefan and Winkelmann, Juliane and Mitrovic, Mitja and Braun, Felix and Ponsioen, Cyriel Y and Croucher, Peter J P and Sterneck, Martina and Teufel, Andreas and Mason, Andrew L and Saarela, Janna and Leppa, Virpi and Dorfman, Ruslan and Alvaro, Domenico and Floreani, Annarosa and Onengut-Gumuscu, Suna and Rich, Stephen S and Thompson, Wesley K and Schork, Andrew J and Næss, Sigrid and Thomsen, Ingo and Mayr, Gabriele and König, Inke R and Hveem, Kristian and Cleynen, Isabelle and Gutierrez-Achury, Javier and Ricaño-Ponce, Isis and van Heel, David and Björnsson, Einar and Sandford, Richard N and Durie, Peter R and Melum, Espen and Vatn, Morten H and Silverberg, Mark S and Duerr, Richard H and Padyukov, Leonid and Brand, Stephan and Sans, Miquel and Annese, Vito and Achkar, Jean-Paul and Boberg, Kirsten Muri and Marschall, Hanns-Ulrich and Chazouillères, Olivier and Bowlus, Christopher L and Wijmenga, Cisca and Schrumpf, Erik and Vermeire, Severine and Albrecht, Mario and Rioux, John D and Alexander, Graeme and Bergquist, Annika and Cho, Judy and Schreiber, Stefan and Manns, Michael P and Färkkilä, Martti and Dale, Anders M and Chapman, Roger W and Lazaridis, Konstantinos N and Franke, Andre and Anderson, Carl A and Karlsen, Tom H and The UK-PSCSC Consortium and The International IBD Genetics Consortium and The International PSC Study Group and Int PSCSC Study Grp and UK-PSCSC Consortium and Int IBD Genetics Consortium and International PSC Study Group and International IBD Genetics Consortium and Sahlgrenska akademin and Institute of Medicine, Department of Internal Medicine and Clinical Nutrition and Göteborgs universitet and Gothenburg University and Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition and Sahlgrenska Academy
Nature genetics, ISSN 1546-1718, 04/2013, Volume 45, Issue 6, pp. 670 - 675
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 Webster, Andrew R and Raymond, F. Lucy 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 Brady, Angie and Brown, Matthew and Browning, Michael and Bryson, Christine and Burns, Siobhan and Calleja, Paul and Canham, Natalie and Carss, Keren 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 Everington, Tamara and Favier, Remi and Firth, Helen and Fletcher, Debra and Flinter, Frances 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