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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, 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
Nature genetics, ISSN 1546-1718, 2012, Volume 44, Issue 12, pp. 1310 - 1315
Journal Article
PLoS biology, ISSN 1545-7885, 2010, Volume 8, Issue 7, p. e1000414
Journal Article
Journal Article
PLoS genetics, ISSN 1553-7390, 11/2010, Volume 6, Issue 11, p. e1001225
In eukaryotes, 45S rRNA genes are arranged in tandem arrays in copy numbers ranging from several hundred to several thousand in plants. Although it is clear... 
ORGANIZATION | MAINTENANCE | DOMINANCE | PROTEIN | RDNA | SEQUENCE | GENETICS & HEREDITY | POLYMERASE-I TRANSCRIPTION | FIBRILLARIN | BINDING | REVEALS | Repetitive Sequences, Nucleic Acid - genetics | Arabidopsis - enzymology | Nucleosomes - metabolism | Nucleolus Organizer Region - genetics | RNA Polymerase I - metabolism | DNA Methylation - genetics | Gene Expression Profiling | RNA, Plant - genetics | Mutation - genetics | Phosphoproteins - metabolism | Genes, rRNA - genetics | RNA, Ribosomal - genetics | Arabidopsis - genetics | Arabidopsis Proteins - metabolism | DNA, Ribosomal Spacer - genetics | Gene Expression Regulation, Plant | Protein Binding | Transcription, Genetic | Protein Processing, Post-Translational | Histones - metabolism | RNA-Binding Proteins - metabolism | Arabidopsis thaliana | Ribosomal RNA | Physiological aspects | Genetic aspects | Research | Methylation | Gene expression | Populations and Evolution | Genomics | RNA-Binding Proteins | Biodiversity | Cellular Biology | Life Sciences | DNA Methylation | Arabidopsis Proteins | Nucleolus Organizer Region | Phosphoproteins | RNA, Ribosomal | Computer Science | Histones | Biomolecules | Genetics | Vegetal Biology | Bioinformatics | Plants genetics | RNA, Plant | DNA, Ribosomal Spacer | Arabidopsis | Quantitative Methods | Biochemistry, Molecular Biology | Systematics, Phylogenetics and taxonomy | Plant breeding | Repetitive Sequences, Nucleic Acid | Nucleosomes | RNA Polymerase I | Genes, rRNA | Mutation | Molecular biology | Molecular Networks | Proteins | Microbiology | Deoxyribonucleic acid | DNA | DNA methylation | RNA polymerase
Journal Article
Nature genetics, ISSN 1546-1718, 2014, Volume 46, Issue 10, pp. 1147 - 1151
The cohesin complex is at the heart of many chromosomal activities, including sister chromatid cohesion and transcriptional regulation(1-3). Cohesin loading... 
YEAST CHROMOSOMES | XENOPUS EGG EXTRACTS | NIPPED-B | RSC | REPLICATION | REMODELING COMPLEX | GENES | GENETICS & HEREDITY | IDENTIFICATION | SACCHAROMYCES-CEREVISIAE | GENOME | Abnormalities, Multiple - metabolism | Chromatin - metabolism | Oligonucleotide Array Sequence Analysis | Chromatids - genetics | Face - abnormalities | Humans | Gene Expression Profiling | Promoter Regions, Genetic - genetics | Intellectual Disability - genetics | Intellectual Disability - metabolism | Chromatids - metabolism | Micrognathism - metabolism | Chromosomes, Fungal - metabolism | De Lange Syndrome - metabolism | Hand Deformities, Congenital - metabolism | Abnormalities, Multiple - genetics | De Lange Syndrome - genetics | Gene Expression Regulation, Fungal | Chromosomal Proteins, Non-Histone - metabolism | Micrognathism - genetics | Nucleosomes - metabolism | Nucleosomes - genetics | Binding Sites - genetics | Neck - abnormalities | Saccharomyces cerevisiae Proteins - genetics | Chromosomal Proteins, Non-Histone - genetics | Chromosomes, Fungal - genetics | Hand Deformities, Congenital - genetics | Transcription Initiation Site | Saccharomyces cerevisiae Proteins - metabolism | Protein Binding | Chromatin - genetics | Genetic research | Nucleosomes | Genetic transcription | Research | Sister chromatid exchange | Proteins | Medical research | Chromatin | Transcription factors | Yeast | Laboratories | Genomes | RNA polymerase | Gene expression | Binding sites | Deoxyribonucleic acid--DNA | Recruitment
Journal Article