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by Peden, Carol J and Stephens, Tim and Martin, Graham and Kahan, Brennan C and Thomson, Ann and Rivett, Kate and Wells, Duncan and Richardson, Gerry and Kerry, Sally and Bion, Julian and Pearse, Rupert M and Pearse, Rupert and Peden, Carol and Stephens, Tim and Bion, Julian and Martin, Graham and Thomson, Ann and Kahan, Brennan and Kerry, Sally and Rivett, Kate and Wells, Duncan and Richardson, Gerry and Brett, Stephen and Ackland, Gareth and Grocott, Mike and Holt, Peter and Robert, Glenn and Ukoumunne, Obioha and Waring, Justin and Everingham, Kirsty and Phull, Mandeep and Cromwell, David and Evley, Rachel and Lilford, Richard and Kocman, David and Asaria, Miqdad and Tarrant, Carolyn and Yang, Fan and Abraham, Ajit and Bothma, Pieter and Conway, Daniel and Stapleton, Clare and Edwards, Mark and Minto, Gary and Saunders, David and Owen, Tom and Waldmann, Carl and Hayden, Paul and Gillies, Michael and Tighe, Sean and Smith, Neil and Mythen, Monty and Murray, David and Lobo, Dileep and Leuwer, Martin and Kirk-Bayley, Justin and Howell, Simon and Gordon, Anthony and Anderson, Iain and Lourtie, Jose and Walker, Simon and Drake, Sharon and Murray, Dave and Watson, Nick and Szakmany, Tamas and Sutcliffe, Robert and Mahajan, Ravi and Girling, Alan and Forbes, Gordon and Faiz, Omar and Blunt, Mark and Singh, Surjait and Steel, Alistair and Wong, Kate and Cabreros, Leilani and Chitre, Vivek and Obideyi, Ayodele and Ali, Dhiraj and Blenk, Karl and Broad, Dan and Brodbeck, Andreas and Dumpala, Rajesh and Engel, Arnth and Ganepola, Ranjit and Garg, Sudha and Gay, Mike and Karlikowsk, Michael and Lams, Edward and Millican, Dean and Misane, Inga and Mull, Ajaya and Naik, Veena and Pushpa, Nathan and Nutt, Chris and Sagadai, Saravanna and Stuart, Hazel and Noble, Paul and Van De Velde, Niko and Hudson, Liam and Benlloch, Raoul and ... and Enhanced Peri-Operative Care for High-risk patients (EPOCH) trial group
The Lancet, ISSN 0140-6736, 06/2019, Volume 393, Issue 10187, pp. 2213 - 2221
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, ISSN 0028-0836, 02/2017, 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... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | 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 | 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
Lancet, The, ISSN 0140-6736, 2016, Volume 387, Issue 10013, pp. 53 - 60
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 Adam, Shelin and du Souich, Christèle and Elliott, Alison M and Lehman, Anna 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 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 ... 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
The American Journal of Human Genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 175 - 187
Journal Article
by Thwaites, Guy E and Scarborough, Matthew and Szubert, Alexander and Nsutebu, Emmanuel and Tilley, Robert and Greig, Julia and Wyllie, Sarah A and Wilson, Peter and Auckland, Cressida and Cairns, Janet and Ward, Denise and Lal, Pankaj and Guleri, Achyut and Jenkins, Neil and Sutton, Julian and Wiselka, Martin and Armando, Gonzalez-Ruiz and Graham, Clive and Chadwick, Paul R and Barlow, Gavin and Gordon, N Claire and Young, Bernadette and Meisner, Sarah and McWhinney, Paul and Price, David A and Harvey, David and Nayar, Deepa and Jeyaratnam, Dakshika and Planche, Tim and Minton, Jane and Hudson, Fleur and Hopkins, Susan and Williams, John and Török, M Estee and Llewelyn, Martin J and Edgeworth, Jonathan D and Walker, A Sarah and Scarborough, Matthew and Kamfose, Musa and de Veciana, Ana and Gordon, Nicola Claire and Peto, Leon and Pill, Gemma and Clarke, Tiphanie and Watson, Laura and Young, Bernadette and Griffiths, Dai and Vaughn, Ali and Anson, Luke and Liu, Elian and Perera, Sanuki and Rylance-Knight, Lydia and Cantell, Carmen and Moroney, Ruth and Edgeworth, Jonathan D and Thwaites, Guy and Bisnauthsing, Karen and Querol-Rubiera, Antonio and Gibbs, Charlotte and Patel, Amita and Hemsley, Carolyn and Goodman, Anna L and Wyncoll, Duncan and Biswas, Jason and Fitzpatrick, Jennifer and Roberts, Lizzie and Millard, James and Stone, Neil and Cape, Angela and Hurley, Lisa and Tam, Chi Kai and Nsutebu, Emmanuel and Hoyle, Marie-Claire and Maitland, Kate and Trainor, Leona and Reynolds, Helen and Harrison, Jennifer and Anson, Jim and Lewis, Joseph and Folb, Jonathan and Goodwin, Lynsey and Beeching, Nicholas and Dyas, Sarah and Winslow, Helen and Foote, Elizabeth and Roberts, Paul and Natarajan, Pavithra and Chrdle, Alex and Fenech, Manuel and Allsop, Hannah and Tilley, Robert and Austin-Hutchison, Rachel and Barrett, Louise and Brookes, Karen and Carwithen, Leanne and Conbeer, Andrew and Cunningham, Richard and Eglinton, Charlotte and Fok, Rosie and Gott, Hannah and ... and United Kingdom Clinical Infection Research Group (UKCIRG) and UKCIRG
The Lancet, ISSN 0140-6736, 02/2018, Volume 391, Issue 10121, pp. 668 - 678
Journal Article
Sexually Transmitted Infections, ISSN 1368-4973, 06/2017, Volume 93, Issue Suppl 1, p. A62
IntroductionPreviously patients testing positive for infections received a text (SMS) asking them to contact clinic. Often this led to missed calls, anxiety... 
Journal Article
Sexually Transmitted Infections, ISSN 1368-4973, 06/2017, Volume 93, Issue Suppl 1, p. A35
IntroductionRecent BASHH guidelines state that patients should be directed to clear, accurate written or web-based information and this is often an auditable... 
Journal Article
by Blok, Lot Snijders and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Venselaar, Hanka and Rodan, Lance H and Nowak, Catherine B and Douglas, Jessica and Swoboda, Kathryn J and Steeves, Marcie A and Sahai, Inderneel and Stumpel, Connie T R M and Stegmann, Alexander P A and Wheeler, Patricia and Willing, Marcia and Fiala, Elise and Kochhar, Aaina and Gibson, William T and Cohen, Ana S A and Agbahovbe, Ruky and Innes, A Micheil and Au, P Y Billie and Rankin, Julia and Anderson, Ilse J and Skinner, Steven A and Louie, Raymond J and Warren, Hannah E and Afenjar, Alexandra and Keren, Boris and Nava, Caroline and Buratti, Julien and Isapof, Arnaud and Rodriguez, Diana and Lewandowski, Raymond and Propst, Jennifer and van Essen, Ton and Choi, Murim and Lee, Sangmoon and Chae, Jong H and Price, Susan and Schnur, Rhonda E and Douglas, Ganka and Wentzensen, Ingrid M and Zweier, Christiane and Reis, André and Bialer, Martin G and Moore, Christine and Koopmans, Marije and Brilstra, Eva H and Monroe, Glen R and van Gassen, Koen L I and van Binsbergen, Ellen and Newbury-Ecob, Ruth and Bownass, Lucy and Bader, Ingrid and Mayr, Johannes A and Wortmann, Saskia B and Jakielski, Kathy J and Strand, Edythe A and Kloth, Katja and Bierhals, Tatjana and Roberts, John D and Petrovich, Robert M and Machida, Shinichi and Kurumizaka, Hitoshi and Lelieveld, Stefan and Pfundt, Rolph and Jansen, Sandra and Deriziotis, Pelagia and Faivre, Laurence and Thevenon, Julien and Assoum, Mirna and Shriberg, Lawrence and Kleefstra, Tjitske and Brunner, Han G and Wade, Paul A and Fisher, Simon E and Campeau, Philippe M and DDD study and The DDD study
Nature communications, ISSN 2041-1723, 02/2019, Volume 10, Issue 1, pp. 883 - 4
The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has... 
DNA helicase | Neurodevelopmental disorders | Mutation
Journal Article