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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
Nature Genetics, ISSN 1061-4036, 11/2013, Volume 45, Issue 11, pp. 1309 - 1321
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/2012, Volume 49, Issue 6, pp. 353 - 361
Journal Article
Journal Article
Journal of Clinical Pathology, ISSN 0021-9746, 09/2016, Volume 69, Issue 9, pp. 767 - 771
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2015, Volume 10, Issue 3, pp. e0120045 - e0120045
Cervical cancer is the major cause of cancer related deaths in women, especially in developing countries and Human Papilloma Virus infection in conjunction... 
EPITHELIAL-MESENCHYMAL TRANSITION | BREAST-CANCER | GROWTH-FACTOR-BETA | INVASION | MULTIDISCIPLINARY SCIENCES | TRANSFORMING GROWTH-FACTOR-BETA-1 | PANCREATIC-CANCER | GENE-EXPRESSION | MECHANISMS | HUMAN-PAPILLOMAVIRUS | TRANSCRIPTION FACTOR | Receptors, Transforming Growth Factor beta - genetics | Humans | Collagen - chemistry | Epithelial-Mesenchymal Transition - drug effects | Wnt Proteins - metabolism | Smad4 Protein - genetics | Cyclin-Dependent Kinase Inhibitor p21 - metabolism | Peptidylprolyl Isomerase - metabolism | Peptidylprolyl Isomerase - genetics | Protein-Serine-Threonine Kinases - metabolism | Emodin - pharmacology | Curcumin - pharmacology | Cyclin-Dependent Kinase Inhibitor p21 - antagonists & inhibitors | Smad3 Protein - antagonists & inhibitors | beta Catenin - metabolism | Drug Synergism | Cell Movement - drug effects | Receptors, Transforming Growth Factor beta - antagonists & inhibitors | Cyclin D1 - genetics | Signal Transduction - drug effects | Cell Line, Tumor | Laminin - chemistry | HeLa Cells | Cyclin D1 - metabolism | Smad4 Protein - antagonists & inhibitors | Gene Expression Regulation, Neoplastic | Smad3 Protein - metabolism | Proteoglycans - chemistry | Smad3 Protein - genetics | Cyclin D1 - antagonists & inhibitors | Cyclin-Dependent Kinase Inhibitor p21 - genetics | Wnt Proteins - genetics | Protein-Serine-Threonine Kinases - antagonists & inhibitors | Transforming Growth Factor beta - antagonists & inhibitors | Female | Snail Family Transcription Factors | Protein-Serine-Threonine Kinases - genetics | Transcription Factors - antagonists & inhibitors | NIMA-Interacting Peptidylprolyl Isomerase | Transcription Factors - genetics | Smad4 Protein - metabolism | beta Catenin - genetics | Transcription Factors - metabolism | Transforming Growth Factor beta - genetics | Receptors, Transforming Growth Factor beta - metabolism | beta Catenin - antagonists & inhibitors | Cell Proliferation - drug effects | Antineoplastic Agents, Phytogenic - pharmacology | Transforming Growth Factor beta - metabolism | Drug Combinations | Biotechnology | Deregulation | Wnt protein | Mesenchyme | Downstream effects | Crosstalk | Developing countries | Viruses | Smad3 protein | Biochemistry | Metastasis | Kinases | Pin1 protein | Developing nations | Cancer therapies | Carcinogenesis | Smad4 protein | Developing countries--LDCs | Cell adhesion & migration | Proteins | β-catenin | Signal transduction | Carcinogens | Pathways | Cell cycle | Curcumin | Tumorigenesis | Inhibition | Downstream | Medical research | Breast cancer | Tumor cell lines | Gene expression | Cervix | Emodin | Signaling | Chemotherapy | Phytochemicals | Cell lines | Ligands | Cell migration | Cervical cancer | Cancer | Apoptosis | Index Medicus | LDCs
Journal Article
Journal Article
Nature, ISSN 0028-0836, 02/2011, Volume 470, Issue 7333, pp. 269 - 276
Journal Article