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Journal Article
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
Gynecologic Oncology, ISSN 0090-8258, 2016, Volume 141, Issue 3, pp. 454 - 460
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-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
by Stefansson, Hreinn and Ophoff, Roel A and Steinberg, Stacy and Aneassen, Ole A and Cichon, Sven and Rujescu, Dan and Werge, Thomas and Pietiläinen, Olli P. H and Mors, Ole and Mortensen, Preben B and Sigurdsson, Engilbert and Gustafsson, Omar and Nyegaard, Mette and Tuulio-Henriksson, Annamari and Ingason, Anes and Hansen, Thomas and Suvisaari, Jaana and Lonnqvist, Jouko and Paunio, Tiina and Børglum, Anders D and Hartmann, Annette and Fink-Jensen, Anders and Nordentoft, Merete and Hougaard, David and Norgaard-Pedersen, Bent and Böttcher, Yvonne and Olesen, Jes and Breuer, René and Möller, Hans-Jürgen and Giegling, Ina and Rasmussen, Henrik B and Timm, Sally and Mattheisen, Manuel and Bitter, István and Réthelyi, János M and Magnusdottir, Brynja B and Sigmundsson, Thordur and Olason, Pall and Masson, Gisli and Gulcher, Jeffrey R and Haraldsson, Magnus and Fossdal, Ragnheidur and Thorgeirsson, Thorgeir E and Thorsteinsdottir, Unnur and Ruggeri, Mirella and Tosato, Sarah and Franke, Barbara and Strengman, Eric and Kiemeney, Lambertus A and Melle, Ingrid and Djurovic, Srdjan and Abramova, Lilia and Kaleda, Vasily and Sanjuan, Julio and de Frutos, Rosa and Bramon, Elvira and Vassos, Evangelos and Fraser, Gillian and Ettinger, Ulrich and Picchioni, Marco and Walker, Nicholas and Toulopoulou, Timi and Need, Anna C and Ge, Dongliang and Yoon, Joeng Lim and Shianna, Kevin V and Freimer, Nelson B and Cantor, Rita M and Murray, Robin and Kong, Augustine and Golimbet, Vera and Carracedo, Angel and Arango, Celso and Costas, Javier and Jönsson, Erik G and Terenius, Lars and Agartz, Ingrid and Petursson, Hannes and Nöthen, Markus M and Rietschel, Marcella and Matthews, Paul M and Muglia, Pieranea and Peltonen, Leena and St Clair, David and Goldstein, David B and Stefansson, Kari and Collier, David A and Kahn, René S and Linszen, Don H and van Os, Jim and Wiersma, Durk and Bruggeman, Richard and Cahn, Wiepke and de Haan, Lieuwe and Krabbendam, Lydia and Myin-Germeys, Inez and GROUP and Genetic Risk and Outcome in Psychosis (GROUP)
Nature, ISSN 0028-0836, 2009, Volume 460, Issue 7256, pp. 744 - 747
Journal Article