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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), 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 | 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
Nature (London), ISSN 1476-4687, 2008, Volume 455, Issue 7216, pp. 1061 - 1068
Journal Article
by Abeshouse, Adam and Ahn, Jaeil and Akbani, Rehan and Ally, Adrian and Amin, Samirkumar and Andry, Christopher D and Annala, Matti and Aprikian, Armen and Armenia, Joshua and Arora, Arshi and Auman, J. Todd and Balasundaram, Miruna and Balu, Saianand and Barbieri, Christopher E and Bauer, Thomas and Benz, Christopher C and Bergeron, Alain and Beroukhim, Rameen and Berrios, Mario and Bivol, Adrian and Bodenheimer, Tom and Boice, Lori and Bootwalla, Moiz S and Borges dos Reis, Rodolfo and Boutros, Paul C and Bowen, Jay and Bowlby, Reanne and Boyd, Jeffrey and Bradley, Robert K and Breggia, Anne and Brimo, Fadi and Bristow, Christopher A and Brooks, Denise and Broom, Bradley M and Bryce, Alan H and Bubley, Glenn and Burks, Eric and Butterfield, Yaron S.N and Button, Michael and Canes, David and Carlotti, Carlos G and Carlsen, Rebecca and Carmel, Michel and Carroll, Peter R and Carter, Scott L and Cartun, Richard and Carver, Brett S and Chan, June M and Chang, Matthew T and Chen, Yu and Cherniack, Andrew D and Chevalier, Simone and Chin, Lynda and Cho, Juok and Chu, Andy and Chuah, Eric and Chudamani, Sudha and Cibulskis, Kristian and Ciriello, Giovanni and Clarke, Amanda and Cooperberg, Matthew R and Corcoran, Niall M and Costello, Anthony J and Cowan, Janet and Crain, Daniel and Curley, Erin and David, Kerstin and Demchok, John A and Demichelis, Francesca and Dhalla, Noreen and Dhir, Rajiv and Doueik, Alexandre and Drake, Bettina and Dvinge, Heidi and Dyakova, Natalya and Felau, Ina and Ferguson, Martin L and Frazer, Scott and Freedland, Stephen and Fu, Yao and Gabriel, Stacey B and Gao, Jianjiong and Gardner, Johanna and Gastier-Foster, Julie M and Gehlenborg, Nils and Gerken, Mark and Gerstein, Mark B and Getz, Gad and Godwin, Andrew K and Gopalan, Anuradha and Graefen, Markus and Graim, Kiley and Gribbin, Thomas and Guin, Ranabir and Gupta, Manaswi and Hadjipanayis, Angela and Haider, Syed and Hamel, Lucie and Hayes, D. Neil and Heiman, David I and ... and The Cancer Genome Atlas Research Network and Canc Genome Atlas Res Network and Cancer Genome Atlas Research Network
Cell (Cambridge), ISSN 0092-8674, 2015, Volume 163, Issue 4, pp. 1011 - 1025
Journal Article
Nature communications, ISSN 2041-1723, 2018, Volume 9, Issue 1, pp. 3970 - 16
Journal Article