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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 137, Issue 5, pp. 1498 - 1505.e1
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 | 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 Pearse, Rupert M and Clavien, Pierre-Alain and Demartines, Nicolas and Fleisher, Lee A and Grocott, Mike and Haddow, James and Holt, Peter and Moreno, Rui and Pritchard, Naomi and Rhodes, Andrew and Wilson, Matt and Ferguson, Marissa and Macmahon, Michael and Shulman, Mark and Cherian, Ritchie and Currow, Helen and Kanathiban, Kathirgamanathan and Gillespie, David and Pathmanathan, Edward and Phillips, Katherine and Reynolds, Jenifer and Rowley, Joanne and Douglas, Jeanene and Kerridge, Ross and Garg, Sameer and Bennett, Michael and Jain, Megha and Alcock, David and Terblanche, Nico and Cotter, Rochelle and Leslie, Kate and Stewart, Marcelle and Zingerle, Nicolette and Clyde, Antony and Hambidge, Oliver and Rehak, Adam and Cotterell, Sharon and Huynh, Wilson Binh Quan and McCulloch, Timothy and Ben-Menachem, Erez and Egan, Thomas and Cope, Jennifer and Halliwell, Richard and Fellinger, Paul and Haisjackl, Markus and Haselberger, Simone and Holaubek, Caroline and Lichtenegger, Paul and Scherz, Florian and Schmid, Werner and Hoffer, Franz and Cakova, Veronika and Eichwalder, Andreas and Fischbach, Norbert and Klug, Reinhold and Schneider, Elisabeth and Vesely, Martin and Wickenhauser, Reinhart and Grubmueller, Karl Gernot and Leitgeb, Marion and Lang, Friedrich and Toro, Nancy and Bauer, Marlene and Laengle, Friedrich and Haberl, Claudia and Mayrhofer, Thomas and Trybus, Christoph and Buerkle, Christian and Forstner, Karin and Germann, Reinhard and Rinoesl, Harald and Schindler, Elke and Trampitsch, Ernst and Bogner, Gerhard and Dankl, Daniel and Duenser, Martin and Fritsch, Gerhard and Gradwohl-Matis, Ilse and Hartmann, Andreas and Hoelzenbein, Thomas and Jaeger, Tarkan and Landauer, Franz and Lindl, Gregor and Lux, Michael and Steindl, Johannes and Stundner, Ottokar and Szabo, Christian and Bidgoli, Jawad and Verdoodt, Hans and Forget, Patrice and Kahn, David and Lois, Fernande and Momeni, Mona and Prégardien, Caroline and Pospiech, Audrey and Steyaert, Arnaud and Veevaete, Laurent and De Kegel, Dirk and De Jongh, Karen and Foubert, Luc and ... and International Surgical Outcomes Study group and Int Surg Outcomes Study Grp and Region Östergötland and Sinnescentrum and Anestesi- och intensivvårdskliniken US
British Journal of Anaesthesia, ISSN 0007-0912, 11/2016, Volume 117, Issue 5, pp. 601 - 609
Journal Article