Nature, ISSN 0028-0836, 03/2015, Volume 519, Issue 7542, pp. 223 - 228
Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders(1), up to half of children with...
INTELLECTUAL DISABILITY | HUMAN-DISEASE | DE-NOVO MUTATIONS | MULTIDISCIPLINARY SCIENCES | FRAMEWORK | MODEL | AUTISM SPECTRUM DISORDERS | COPY-NUMBER VARIATION | CHILDREN | Rare Diseases - genetics | Humans | Parents | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Dynamin I - genetics | Mutation, Missense - genetics | Polycomb Repressive Complex 1 - genetics | Gene Expression Regulation, Developmental | Transposases - genetics | Female | Nuclear Proteins - genetics | Child | Developmental Disabilities - diagnosis | Infant, Newborn | Guanine Nucleotide Exchange Factors - genetics | Protein Phosphatase 2 - genetics | Protein-Serine-Threonine Kinases - genetics | United Kingdom | Phosphoproteins - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Nerve Tissue Proteins - genetics | Genome, Human - genetics | Homeodomain Proteins - genetics | Zebrafish - genetics | Chromosomal Proteins, Non-Histone - genetics | Carrier Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Animals | Adolescent | Chromosome Aberrations | Genes, Dominant - genetics | Usage | Genomics | Child development deviations | Genetic aspects | Research | Risk factors | Developmental disabilities | Studies | Hypotheses | Genes | Developmental psychology | Families & family life | Genomes | Mutation | Children & youth
INTELLECTUAL DISABILITY | HUMAN-DISEASE | DE-NOVO MUTATIONS | MULTIDISCIPLINARY SCIENCES | FRAMEWORK | MODEL | AUTISM SPECTRUM DISORDERS | COPY-NUMBER VARIATION | CHILDREN | Rare Diseases - genetics | Humans | Parents | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Dynamin I - genetics | Mutation, Missense - genetics | Polycomb Repressive Complex 1 - genetics | Gene Expression Regulation, Developmental | Transposases - genetics | Female | Nuclear Proteins - genetics | Child | Developmental Disabilities - diagnosis | Infant, Newborn | Guanine Nucleotide Exchange Factors - genetics | Protein Phosphatase 2 - genetics | Protein-Serine-Threonine Kinases - genetics | United Kingdom | Phosphoproteins - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Nerve Tissue Proteins - genetics | Genome, Human - genetics | Homeodomain Proteins - genetics | Zebrafish - genetics | Chromosomal Proteins, Non-Histone - genetics | Carrier Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Animals | Adolescent | Chromosome Aberrations | Genes, Dominant - genetics | Usage | Genomics | Child development deviations | Genetic aspects | Research | Risk factors | Developmental disabilities | Studies | Hypotheses | Genes | Developmental psychology | Families & family life | Genomes | Mutation | Children & youth
Journal Article
Nature, ISSN 0028-0836, 2004, Volume 432, Issue 7018, pp. 695 - 716
We present here a draft genome sequence of the red jungle fowl, Gallus gallus. Because the chicken is a modern descendant of the dinosaurs and the first...
phylogenetic analysis | mammalian evolution | tissue-specific genes | brown-norway rat | non-ltr retrotransposons | major histocompatibility complex | olfactory receptor | mouse genome | recent segmental duplications | alcohol-dehydrogenase | MOUSE GENOME | NON-LTR RETROTRANSPOSONS | ALCOHOL-DEHYDROGENASE | PHYLOGENETIC ANALYSIS | MULTIDISCIPLINARY SCIENCES | BROWN-NORWAY RAT | RECENT SEGMENTAL DUPLICATIONS | MAJOR HISTOCOMPATIBILITY COMPLEX | TISSUE-SPECIFIC GENES | OLFACTORY RECEPTOR | MAMMALIAN EVOLUTION | Gene Duplication | Multigene Family - genetics | Conserved Sequence - genetics | Vertebrates - genetics | Physical Chromosome Mapping | Genomics | Humans | Long Interspersed Nucleotide Elements - genetics | Mutagenesis - genetics | Synteny | Genes - genetics | Short Interspersed Nucleotide Elements - genetics | RNA, Untranslated - genetics | Sequence Analysis, DNA | Pseudogenes - genetics | Animals | Retroviridae - genetics | DNA Transposable Elements - genetics | Chickens - genetics | Genome | Avian Proteins - genetics | Evolution, Molecular | Birds | Evolution | Genetic diversity | Gene expression | Mammals | Chromosomes | Research Support; U.S. Gov't; P.H.S | Research Support; U.S. Gov't; Non-P.H.S | Comparative Study | Long Interspersed Nucleotide Elements/genetics | Biology | Avian Proteins/genetics | Vertebrates/genetics | Short Interspersed Nucleotide Elements/genetics | Pseudogenes/genetics | Genetics | Research Support; Non-U.S. Gov't | Biologi | Natural Sciences | Biological Sciences | RNA; Untranslated/genetics | Mutagenesis/genetics | DNA Transposable Elements/genetics | Multigene Family/genetics | Retroviridae/genetics | Sequence Analysis; DNA | Genetik | Genes/genetics | Naturvetenskap | Conserved Sequence/genetics | Evolution; Molecular | Biologiska vetenskaper | Cell and molecular biology | Chickens/genetics | Cell- och molekylärbiologi
phylogenetic analysis | mammalian evolution | tissue-specific genes | brown-norway rat | non-ltr retrotransposons | major histocompatibility complex | olfactory receptor | mouse genome | recent segmental duplications | alcohol-dehydrogenase | MOUSE GENOME | NON-LTR RETROTRANSPOSONS | ALCOHOL-DEHYDROGENASE | PHYLOGENETIC ANALYSIS | MULTIDISCIPLINARY SCIENCES | BROWN-NORWAY RAT | RECENT SEGMENTAL DUPLICATIONS | MAJOR HISTOCOMPATIBILITY COMPLEX | TISSUE-SPECIFIC GENES | OLFACTORY RECEPTOR | MAMMALIAN EVOLUTION | Gene Duplication | Multigene Family - genetics | Conserved Sequence - genetics | Vertebrates - genetics | Physical Chromosome Mapping | Genomics | Humans | Long Interspersed Nucleotide Elements - genetics | Mutagenesis - genetics | Synteny | Genes - genetics | Short Interspersed Nucleotide Elements - genetics | RNA, Untranslated - genetics | Sequence Analysis, DNA | Pseudogenes - genetics | Animals | Retroviridae - genetics | DNA Transposable Elements - genetics | Chickens - genetics | Genome | Avian Proteins - genetics | Evolution, Molecular | Birds | Evolution | Genetic diversity | Gene expression | Mammals | Chromosomes | Research Support; U.S. Gov't; P.H.S | Research Support; U.S. Gov't; Non-P.H.S | Comparative Study | Long Interspersed Nucleotide Elements/genetics | Biology | Avian Proteins/genetics | Vertebrates/genetics | Short Interspersed Nucleotide Elements/genetics | Pseudogenes/genetics | Genetics | Research Support; Non-U.S. Gov't | Biologi | Natural Sciences | Biological Sciences | RNA; Untranslated/genetics | Mutagenesis/genetics | DNA Transposable Elements/genetics | Multigene Family/genetics | Retroviridae/genetics | Sequence Analysis; DNA | Genetik | Genes/genetics | Naturvetenskap | Conserved Sequence/genetics | Evolution; Molecular | Biologiska vetenskaper | Cell and molecular biology | Chickens/genetics | Cell- och molekylärbiologi
Journal Article
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 | 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
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, ISSN 0028-0836, 08/2012, 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...
COMPLEX | STRUCTURAL BASIS | LANDSCAPE | CHILDHOOD | MULTIDISCIPLINARY SCIENCES | GENES | 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
COMPLEX | STRUCTURAL BASIS | LANDSCAPE | CHILDHOOD | MULTIDISCIPLINARY SCIENCES | GENES | 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
Journal Article