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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
Journal Article
Cell (Cambridge), ISSN 0092-8674, 06/2006, Volume 125, Issue 5, pp. 873 - 886
In the fission yeast Schizosaccharomyces pombe, the RNA-Induced Transcriptional Silencing (RITS) complex has been proposed to target the chromosome via... 
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | RNA, Small Interfering - genetics | RNA-Binding Proteins - genetics | Exoribonucleases - genetics | Methyltransferases - metabolism | RNA-Induced Silencing Complex - genetics | Methyltransferases - genetics | Schizosaccharomyces - genetics | DNA Methylation | Schizosaccharomyces pombe Proteins - metabolism | Cell Cycle Proteins - genetics | Gene Expression Regulation, Fungal - genetics | RNA Interference - physiology | Sirtuins - genetics | Schizosaccharomyces pombe Proteins - genetics | Chromosomal Proteins, Non-Histone - metabolism | Cell Cycle Proteins - metabolism | RNA Precursors - genetics | Chromosomal Proteins, Non-Histone - genetics | Carrier Proteins - genetics | Carrier Proteins - metabolism | Heterochromatin - genetics | Histones - metabolism | Sirtuins - metabolism | Exoribonucleases - metabolism | Regulatory Elements, Transcriptional - genetics | Histones | Genetic research | Gene silencing | Research | Chromatin | Genetic engineering | RNA | Methylation | Lysine | Analysis | Index Medicus | Sirtuins | Gene Expression Regulation, Fungal | RNA Precursors | Exoribonucleases | Schizosaccharomyces pombe Proteins | Chromosomal Proteins, Non-Histone | RNA-Binding Proteins | Life Sciences | Heterochromatin | Methyltransferases | RNA Interference | Regulatory Elements, Transcriptional | Genetics | RNA, Small Interfering | Cell Cycle Proteins | RNA-Induced Silencing Complex | Schizosaccharomyces | Carrier Proteins
Journal Article
Nature (London), ISSN 1476-4687, 07/2012, Volume 488, Issue 7409, pp. 106 - 110
Medulloblastomas are themost commonmalignant brain tumours in children(1). Identifying and understanding the genetic events that drive these tumours is critical... 
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Transcription Factors - chemistry | Humans | Hedgehog Proteins - metabolism | Wnt Proteins - metabolism | Promoter Regions, Genetic - genetics | Tumor Suppressor Protein p53 - genetics | TCF Transcription Factors - metabolism | Patched Receptors | Cerebellar Neoplasms - classification | DEAD-box RNA Helicases - metabolism | Medulloblastoma - genetics | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Child | DEAD-box RNA Helicases - chemistry | DNA Helicases - genetics | Intracellular Signaling Peptides and Proteins - genetics | DNA Helicases - chemistry | Histone-Lysine N-Methyltransferase - genetics | Signal Transduction | Models, Molecular | Repressor Proteins - genetics | Proto-Oncogene Proteins - genetics | Protein Structure, Tertiary - genetics | Cerebellar Neoplasms - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nuclear Proteins - chemistry | beta Catenin - metabolism | Genome, Human - genetics | beta Catenin - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Histone Methyltransferases | Histone-Lysine N-Methyltransferase - metabolism | LIM Domain Proteins - genetics | Medulloblastoma - classification | Patched-1 Receptor | Receptors, Cell Surface - genetics | Medulloblastoma | Physiological aspects | Development and progression | Genetic aspects | Research | Nucleotide sequencing | Metastasis | DNA sequencing | Cancer | Index Medicus
Journal Article
Cancer, ISSN 0008-543X, 01/2018, Volume 124, Issue 1, pp. 84 - 94
BACKGROUND Human immunodeficiency virus–infected individuals (HIVIIs) have a higher incidence of head and neck squamous cell carcinoma (HNSCC), and clinical... 
human papillomavirus (HPV) | mutation | head and neck cancer | human immunodeficiency virus (HIV) | TP53 gene | Life Sciences & Biomedicine | Oncology | Science & Technology | Receptors, Transforming Growth Factor beta - genetics | Class I Phosphatidylinositol 3-Kinases - genetics | Proto-Oncogene Proteins p21(ras) - genetics | Carcinoma, Squamous Cell - genetics | Humans | Middle Aged | ErbB Receptors - genetics | Male | Receptor, Notch2 - genetics | Case-Control Studies | Papillomaviridae - genetics | Tumor Suppressor Protein p53 - genetics | Cyclin-Dependent Kinase Inhibitor p16 | Caspase 8 - genetics | Kelch-Like ECH-Associated Protein 1 - genetics | F-Box-WD Repeat-Containing Protein 7 - genetics | Squamous Cell Carcinoma of Head and Neck | In Situ Hybridization | Receptor, Transforming Growth Factor-beta Type II | Tumor Suppressor Proteins - genetics | Adult | Female | NF-E2-Related Factor 2 - genetics | Cadherins - genetics | Nuclear Proteins - genetics | Intracellular Signaling Peptides and Proteins - genetics | Papillomavirus Infections - complications | Protein-Serine-Threonine Kinases - genetics | Transcription Factors - genetics | Cyclin-Dependent Kinase Inhibitor p18 - genetics | Histone Methyltransferases | Cyclin D1 - genetics | Carcinoma, Squamous Cell - complications | HIV Infections - complications | HLA-A Antigens - genetics | Head and Neck Neoplasms - complications | Head and Neck Neoplasms - genetics | LIM Domain Proteins - genetics | Aged | Receptor, Notch1 - genetics | Multiplexing | Pathogenesis | Exons | p53 Protein | Genes | Viruses | Genomes | Infections | Cdc4 protein | Gene sequencing | Biological effects | Human papillomavirus | Human immunodeficiency virus--HIV | Deoxyribonucleic acid--DNA | Head | Squamous cell carcinoma | Nucleotide sequence | Epidermal growth factor receptors | Data processing | Patients | Polymerase chain reaction | Head and neck cancer | Histocompatibility antigen HLA | Mutation | Tumors | DNA sequencing | Cancer | Index Medicus | Abridged Index Medicus
Journal Article
Nature genetics, ISSN 1546-1718, 01/2014, Volume 46, Issue 2, pp. 166 - 170
Journal Article