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by Fitzgerald, T.W and Gerety, S.S and Jones, W.D and Van Kogelenberg, M and King, D.A and McRae, J and Morley, K.I and Parthiban, V and Al-Turki, S and Ambridge, K and Barrett, D.M and Bayzetinova, T and Clayton, S and Coomber, E.L and Gribble, S and Jones, P and Krishnappa, N and Mason, L.E and Middleton, A and Miller, R and Prigmore, E and Rajan, D and Sifrim, A and Tivey, A.R and Ahmed, M and Akawi, N and Andrews, R and Anjum, U and Archer, H and Armstrong, R and Balasubramanian, M and Banerjee, R and Baralle, D and Batstone, P and Baty, D and Bennett, C and Berg, J and Bernhard, B and Bevan, A.P and Blair, E and Blyth, M and Bohanna, D and Bourdon, L and Bourn, D and Brady, A and Bragin, E and Brewer, C and Brueton, L and Brunstrom, K and Bumpstead, S.J and Bunyan, D.J and Burn, J and Burton, J and Canham, N and Castle, B and Chandler, K and Clasper, S and Clayton-Smith, J and Cole, T and Collins, A and Collinson, M.N and Connell, F and Cooper, N and Cox, H and Cresswell, L and Cross, G and Crow, Y and D'Alessandro, M and Dabir, T and Davidson, R and Davies, S and Dean, J and Deshpande, C and Devlin, G and Dixit, A and Dominiczak, A and Donnelly, C and Donnelly, D and Douglas, A and Duncan, A and Eason, J and Edkins, S and Ellard, S and Ellis, P and Elmslie, F and Evans, K and Everest, S and Fendick, T and Fisher, R and Flinter, F and Foulds, N and Fryer, A and Fu, B and Gardiner, C and Gaunt, L and Ghali, N and Gibbons, R and Gomes Pereira, S.L and Goodship, J and Goudie, D and ... and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study and The Deciphering Developmental Disorders Study
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 | Index Medicus
Journal Article
1989, Scottish fisheries research report, Volume 42., 12
Levels of genetic variation in 12 Scottish strains of farmed Atlantic salmon have been assessed by determining allele frequency variation at six polymorphic... 
Salmo salar (anadromous/anadrome) | genetics | proteins | fish culture | Scotland | enzymes | cultured organisms | stocks
Book
Nature, ISSN 0028-0836, 2014, Volume 507, Issue 7492, pp. 371 - 375
Journal Article
Nature, ISSN 0028-0836, 2013, Volume 496, Issue 7446, pp. 498 - 503
Journal Article
Circulation, ISSN 0009-7322, 10/2014, Volume 130, Issue 15, pp. 1225 - 1235
BACKGROUND—Atrial fibrillation (AF) affects >30 million individuals worldwide and is associated with an increased risk of stroke, heart failure, and death. AF... 
Atrial fibrillation | Genetics | Zebrafish | Gene expression | Single nucleotide | Epidemiology | Polymorphism | CARDIAC & CARDIOVASCULAR SYSTEMS | RISK-FACTORS | METAANALYSIS | VARIANTS | polymorphism | LOCI | epidemiology | atrial fibrillation | PR INTERVAL | genetics | single nucleotide | PERIPHERAL VASCULAR DISEASE | PRAVASTATIN | zebrafish | HEART-RATE | ISCHEMIC-STROKE | gene expression | ONSET | GENOME-WIDE ASSOCIATION | T-Box Domain Proteins - physiology | Humans | Middle Aged | Male | Genetic Loci - physiology | Atrial Fibrillation - physiopathology | Ubiquitin-Protein Ligases - physiology | Gene Knockdown Techniques | Repressor Proteins - physiology | Muscle Proteins | Connexin 43 - physiology | Female | Nuclear Proteins - genetics | Connexin 43 - genetics | Transcription Factors - physiology | Europe | Japan | Repressor Proteins - genetics | Atrial Fibrillation - ethnology | Genotype | Chromosome Mapping | Transcription Factors - genetics | Atrial Fibrillation - genetics | T-Box Domain Proteins - genetics | Homeodomain Proteins - genetics | Zebrafish Proteins - physiology | Animals | Genetic Predisposition to Disease - ethnology | Aged | Nuclear Proteins - physiology | Zebrafish Proteins - genetics | Homeodomain Proteins - physiology | Quantitative Trait Loci | Ubiquitin-Protein Ligases - genetics | Stroke (Disease) | Care and treatment | Usage | Analysis | Genetic transcription | Diagnosis | Nucleotides | Risk factors | Index Medicus | Abridged Index Medicus
Journal Article
Nature, ISSN 0028-0836, 05/2012, Volume 484, Issue 7397, pp. 195 - 202
Journal Article
Nature Cell Biology, ISSN 1465-7392, 2015, Volume 17, Issue 8, pp. 1074 - 1087
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics... 
JOUBERT-SYNDROME | RPGRIP1 | TRANSPORT | CENTRIOLE BIOGENESIS | PROTEIN | C-ELEGANS | MUTATIONS | PHOTORECEPTOR CELLS | MASTER REGULATOR | PRIMARY CILIA | CELL BIOLOGY | Humans | Pregnancy Proteins - genetics | Databases, Genetic | Suppressor Factors, Immunologic - genetics | Photoreceptor Cells - ultrastructure | Pregnancy Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Cerebellum - abnormalities | Genetic Testing - methods | Suppressor Factors, Immunologic - metabolism | Membrane Proteins - deficiency | Transfection | RNA Interference | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genomics - methods | Genetic Predisposition to Disease | Genome-Wide Association Study | Reproducibility of Results | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Mice, Inbred C57BL | Abnormalities, Multiple | Genetic Markers | Eye Abnormalities - genetics | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Mice, Knockout | Proteins - genetics | Caenorhabditis elegans - ultrastructure | Phenotype | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Proteins - metabolism | Photoreceptor Cells - metabolism | Zebrafish - metabolism | Retina - abnormalities | High-Throughput Nucleotide Sequencing | Ciliary Motility Disorders - metabolism | Mutation | Ciliary Motility Disorders - genetics | RNA | Cilia and ciliary motion | Genetic research | Biosynthesis | Genetic aspects | Research | Gene expression | Properties | Index Medicus | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
Journal Article