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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, 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 Tsoi, L.C and Spain, S.L and Knight, J and Ellinghaus, E and Stuart, P.E and Capon, F and Ding, J and Li, J and Tejasvi, T and Gudjonsson, J.E and Kang, H and Allen, M.H and McManus, R and Novelli, G and Samuelsson, L and Schalkwijk, J and Stahle, M and Burden, A.D and Smith, C.H and Cork, M.J and Estivill, X and Bowcock, A and Krueger, G.G and Weger, W and Worthington, J and Tazi-Ahnini, R and Nestle, F.O and Hayday, A and Hoffmann, P and Winkelmann, J and Wijmenga, C and Langford, C and Edkins, S and Anews, R and Blackburn, H and Strange, A and Band, G and Pearson, R and Vukcevic, D and Spencer, C.C and Deloukas, P and Mrowietz, U and Schreiber, S and Weidinger, S and Koks, S and Kingo, K and Esko, T and Metspalu, A and Lim, H.W and Voorhees, J.J and Weichenthal, M and Wichmann, H.E and Chanan, V and Rosen, C.F and Rahman, P and Gladman, D.D and Griffiths, C.E and Reis, A and Kere, J and Duffin, K.C and Helms, C and Goldgar, D and Li, Y and Paschall, J and Malloy, M.J and Pullinger, C.R and Kane, J.P and Gardner, J and Perlmutter, A and Miner, A and Feng, B.J and Hiremagalore, R and Ike, R.W and Christophers, E and Henseler, T and Ruether, A and Schrodi, S.J and Prahalad, S and Guthery, S.L and Hiregalore, R and Donnelly, P and Collaborative Assoc Study Psoriasi and Psoriasis Assoc Genetics Extension and Genetic Anal Psoriasis Consortium and Wellcome Trust Case Control Consor and Psoriasis Association Genetics Extension and Genetic Analysis of Psoriasis Consortium and Collaborative Association Study of Psoriasis (CASP) and Wellcome Trust Case Control Consortium 2 and Sahlgrenska akademin and Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik and Göteborgs universitet and Gothenburg University and Institute of Biomedicine, Department of Medical and Clinical Genetics and Sahlgrenska Academy
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 12, pp. 1341 - 1348
To gain further insight into the genetic architecture of psoriasis, we conducted a meta-analysis of 3 genome-wide association studies (GWAS) and 2 independent... 
COMMON VARIANTS | SIGNALING PATHWAYS | MULTIPLE COMMON | INTERFERON-GAMMA | TH17 DIFFERENTIATION | GENETICS & HEREDITY | GENE-EXPRESSION | T-CELL DEVELOPMENT | GENOME-WIDE ASSOCIATION | CELIAC-DISEASE | NEGATIVE REGULATOR | Oligonucleotide Array Sequence Analysis | Humans | Immunity, Innate - genetics | Genetic Loci | CARD Signaling Adaptor Proteins - genetics | Psoriasis - genetics | Core Binding Factor Alpha 3 Subunit - immunology | STAT3 Transcription Factor - genetics | Skin - immunology | Psoriasis - immunology | CARD Signaling Adaptor Proteins - immunology | DEAD Box Protein 58 | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Guanylate Cyclase - immunology | Membrane Proteins - genetics | Membrane Proteins - immunology | GTPase-Activating Proteins - immunology | DEAD-box RNA Helicases - genetics | Core Binding Factor Alpha 3 Subunit - genetics | DEAD-box RNA Helicases - immunology | Guanylate Cyclase - genetics | T-Lymphocytes - immunology | Polymorphism, Single Nucleotide | GTPase-Activating Proteins - genetics | STAT3 Transcription Factor - immunology | Psoriasis | Physiological aspects | Disease susceptibility | Genetic aspects | Research | Autoimmune diseases | Gene expression | Chromosomes | Risk factors | Index Medicus | genetic analysis | innate immunity | Dermatologi och venereologi | Dermatology and Venereal Diseases | psoriasis
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2010, Volume 5, Issue 2, pp. e8918 - e8918
Background: Glioblastoma multiforme (GBM) is the most common and aggressive type of brain tumor in humans and the first cancer with comprehensive genomic... 
GLIOMAS | PROTEIN-INTERACTION NETWORKS | HUMAN-DISEASE | BIOLOGICAL NETWORKS | METABOLIC NETWORKS | MULTIDISCIPLINARY SCIENCES | FUNCTIONAL MODULES | GENES | CANCER GENOME | PIKE-A | INTEGRATED ANALYSIS | Genetic Predisposition to Disease | Humans | Brain Neoplasms - genetics | Signal Transduction - genetics | Gene Regulatory Networks | GTP-Binding Proteins - genetics | Tumor Suppressor Protein p53 - genetics | Phosphatidylinositol 3-Kinases - genetics | Algorithms | Glioblastoma - genetics | Retinoblastoma Protein - genetics | Models, Genetic | Software | GTPase-Activating Proteins - genetics | Mutation | Genes | Brain tumors | Genomics | Natural language interfaces | Genomes | Protein-protein interactions | Technology application | Mobile communication systems | Wireless communication systems | Language processing | Analysis | Genetic aspects | Computational linguistics | Tumor proteins | Health aspects | Protein kinases | Cancer | Brain | Copy number | Modules | p53 Protein | Brain cancer | Glioblastoma | Biology | Metastasis | Software development tools | Kinases | Proteins | Signal transduction | Alterations | Pathways | Cellular communication | Network analysis | Phylogenetics | Bioinformatics | Deoxyribonucleic acid--DNA | Cartography | Nucleotide sequence | Retinoblastoma protein | Metabolism | Gene expression | Glioblastoma multiforme | 1-Phosphatidylinositol 3-kinase | Endothelium | Signaling | Hypotheses | Passengers | Protein interaction | Tumors | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
Nature, ISSN 0028-0836, 09/2015, Volume 525, Issue 7567, pp. 56 - 61
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Science, ISSN 0036-8075, 5/2013, Volume 340, Issue 6136, pp. 1100 - 1106
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Journal Article
Nature Cell Biology, ISSN 1465-7392, 09/2011, Volume 13, Issue 9, pp. 1108 - 1117
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Journal Article