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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 The Deciphering Developmental Disorders Study and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study
Nature (London), ISSN 1476-4687, 2014, Volume 519, Issue 7542, pp. 223 - 228
Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders(1... 
INTELLECTUAL DISABILITY | HUMAN-DISEASE | DE-NOVO MUTATIONS | MULTIDISCIPLINARY SCIENCES | FRAMEWORK | MODEL | AUTISM SPECTRUM DISORDERS | COPY-NUMBER VARIATION | CHILDREN | Rare Diseases - genetics | Humans | Repressor Proteins | 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
Genetics (Austin), ISSN 1943-2631, 2017, Volume 207, Issue 1, pp. 9 - 27
Journal Article
PloS one, ISSN 1932-6203, 2011, Volume 6, Issue 7, p. e22542
Background: Moyamoya disease is an idiopathic vascular disorder of intracranial arteries... 
MIDDLE CEREBRAL-ARTERY | WILLIS | VIRUS-INFECTION | ZEBRAFISH | SPONTANEOUS OCCLUSION | BIOLOGY | FIBROBLAST-GROWTH-FACTOR | LINKAGE ANALYSIS | CEREBROSPINAL-FLUID | EXPRESSION | CIRCLE | Moyamoya Disease - ethnology | Blood Vessels - metabolism | Humans | DNA, Complementary - genetics | 3' Untranslated Regions - genetics | Molecular Sequence Data | Male | Case-Control Studies | Gene Knockdown Techniques | Blood Vessels - physiopathology | Base Sequence | Cloning, Molecular | HEK293 Cells | Adult | Female | Genetic Predisposition to Disease - genetics | Gene Expression Regulation | Ubiquitin-Protein Ligases - metabolism | Linkage Disequilibrium - genetics | Exons - genetics | Zebrafish | DNA Copy Number Variations - genetics | Open Reading Frames - genetics | Sequence Homology, Amino Acid | Exome - genetics | Animals | Adenosine Triphosphatases | Alleles | Ubiquitin-Protein Ligases - deficiency | Moyamoya Disease - physiopathology | HeLa Cells | Ubiquitin-Protein Ligases - genetics | Moyamoya Disease - genetics | Ubiquitin | Medical colleges | Disease susceptibility | Genetic aspects | Gene mutations | Genes | Haplotypes | Transcription | Laboratories | Genomics | Chicken pox | Infections | Single-nucleotide polymorphism | Family medical history | Neurosurgery | Carotid arteries | Arteries | Ubiquitination | Life sciences | Informatics | Ubiquitin-protein ligase | Linkage analysis | Lupus | Hypertension | Cytomegalovirus | Stroke | Moyamoya disease | Cytokines | Susceptibility | Blood vessels | Radiation therapy | Disease control | Patients | Loci | Studies | Environmental science | Genotyping | Mutation | Gene mapping | Adenosine triphosphatase | Veins & arteries
Journal Article
Current Neurology and Neuroscience Reports, ISSN 1528-4042, 6/2011, Volume 11, Issue 3, pp. 274 - 282
Journal Article
Science (American Association for the Advancement of Science), ISSN 1095-9203, 2014, Volume 343, Issue 6170, pp. 506 - 511
Journal Article
PLoS genetics, ISSN 1553-7404, 2017, Volume 13, Issue 7, p. e1006936
...), a syndrome caused by defects in cilia transport and function, as well as McKusick-Kaufman syndrome, a genetic disorder characterized by congenital heart defects... 
ZEBRAFISH EMBRYOS | KUPFFERS VESICLE | MCKUSICK-KAUFMAN-SYNDROME | SWI/SNF COMPLEX | PORE COMPLEX | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | SYNDROME GENES | MUTATIONS | BETA-CATENIN | MOUSE EMBRYO | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Uterine Diseases - metabolism | Bardet-Biedl Syndrome - metabolism | Humans | Uterine Diseases - pathology | Chromatin Assembly and Disassembly - genetics | Cytoplasm - metabolism | Polydactyly - metabolism | Group II Chaperonins - genetics | Heart Defects, Congenital - genetics | Hydrocolpos - genetics | Bardet-Biedl Syndrome - pathology | Bardet-Biedl Syndrome - genetics | Hydrocolpos - pathology | Active Transport, Cell Nucleus - genetics | Abnormalities, Multiple - genetics | Disease Models, Animal | Cilia - pathology | Polydactyly - genetics | Heart Defects, Congenital - pathology | Hydrocolpos - metabolism | Transcription Factors - biosynthesis | Transcription Factors - genetics | Cilia - metabolism | Protein Transport - genetics | Zebrafish - genetics | Animals | Animals, Genetically Modified - genetics | Uterine Diseases - genetics | Heart Defects, Congenital - metabolism | Mice | Mutation | Chromatin - genetics | Polydactyly - pathology | Chromatin | Bardet-Biedl syndrome | Genetic aspects | Gene mutations | Health aspects | Heart | Pediatrics | Profiling | Transcription | Funding | Retinitis pigmentosa | Disorders | Transgenic | Cardiovascular disease | Biology | Remodeling | Nuclei | Defects | Proteins | Localization | Heart diseases | Cilia | Genetic disorders | Congenital diseases | Zebrafish | Roles | Gene expression | Patients | Coronary artery disease | Chromatin remodeling | Medicine | Alleles | McKusick-Kaufman syndrome | Genetic engineering | Retinitis | Transport | Cytoplasm
Journal Article