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Molecular genetics and genomics, ISSN 1617-4615, 2001
Journal
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
by Djebali, Sarah and Davis, Carrie A and Merkel, Angelika and Dobin, Alex and Lassmann, Timo and Mortazavi, Ali and Tanzer, Andrea and Lagarde, Julien and Lin, Wei and Schlesinger, Felix and Xue, Chenghai and Marinov, Georgi K and Khatun, Jainab and Williams, Brian A and Zaleski, Chris and Rozowsky, Joel and Röder, Maik and Kokocinski, Felix and Abdelhamid, Rehab F and Alioto, Tyler and Antoshechkin, Igor and Baer, Michael T and Bar, Nadav S and Batut, Philippe and Bell, Kimberly and Bell, Ian and Chakrabortty, Sudipto and Chen, Xian and Chrast, Jacqueline and Curado, Joao and Derrien, Thomas and Drenkow, Jorg and Dumais, Erica and Dumais, Jacqueline and Duttagupta, Radha and Falconnet, Emilie and Fastuca, Meagan and Fejes-Toth, Kata and Ferreira, Pedro and Foissac, Sylvain and Fullwood, Melissa J and Gao, Hui and Gonzalez, David and Gordon, Assaf and Gunawardena, Harsha and Howald, Cedric and Jha, Sonali and Johnson, Rory and Kapranov, Philipp and King, Brandon and Kingswood, Colin and Luo, Oscar J and Park, Eddie and Persaud, Kimberly and Preall, Jonathan B and Ribeca, Paolo and Risk, Brian and Robyr, Daniel and Sammeth, Michael and Schaffer, Lorian and See, Lei-Hoon and Shahab, Atif and Skancke, Jorgen and Suzuki, Ana Maria and Takahashi, Hazuki and Tilgner, Hagen and Trout, Diane and Walters, Nathalie and Wang, Huaien and Wrobel, John and Yu, Yanbao and Ruan, Xiaoan and Hayashizaki, Yoshihide and Harrow, Jennifer and Gerstein, Mark and Hubbard, Tim and Reymond, Alexandre and Antonarakis, Stylianos E and Hannon, Gregory and Giddings, Morgan C and Ruan, Yijun and Wold, Barbara and Carninci, Piero and Guig, Roderic and Gingeras, Thomas R
Nature, ISSN 0028-0836, 09/2012, Volume 489, Issue 7414, pp. 101 - 108
Journal Article
by Altshuler, David M and Durbin, Richard M and Abecasis, Gonçalo R and Bentley, David R and Chakravarti, Aravinda and Clark, Andrew G and Donnelly, Peter and Eichler, Evan E and Flicek, Paul and Gabriel, Stacey B and Gibbs, Richard A and Green, Eric D and Hurles, Matthew E and Knoppers, Bartha M and Korbel, Jan O and Lander, Eric S and Lee, Charles and Lehrach, Hans and Mardis, Elaine R and Marth, Gabor T and McVean, Gil A and Nickerson, Deborah A and Schmidt, Jeanette P and Sherry, Stephen T and Wang, Jun and Wilson, Richard K and Dinh, Huyen and Kovar, Christie and Lee, Sandra and Lewis, Lora and Muzny, Donna and Reid, Jeff and Wang, Min and Fang, Xiaodong and Guo, Xiaosen and Jian, Min and Jiang, Hui and Jin, Xin and Li, Guoqing and Li, Jingxiang and Li, Yingrui and Li, Zhuo and Liu, Xiao and Lu, Yao and Ma, Xuedi and Su, Zhe and Tai, Shuaishuai and Tang, Meifang and Wang, Bo and Wang, Guangbiao and Wu, Honglong and Wu, Renhua and Yin, Ye and Zhang, Wenwei and Zhao, Jiao and Zhao, Meiru and Zheng, Xiaole and Zhou, Yan and Gupta, Namrata and Clarke, Laura and Leinonen, Rasko and Smith, Richard E and Zheng-Bradley, Xiangqun and Grocock, Russell and Humphray, Sean and James, Terena and Kingsbury, Zoya and Sudbrak, Ralf and Albrecht, Marcus W and Amstislavskiy, Vyacheslav S and Borodina, Tatiana A and Lienhard, Matthias and Mertes, Florian and Sultan, Marc and Timmermann, Bernd and Yaspo, Marie-Laure and Fulton, Lucinda and Fulton, Robert and Weinstock, George M and Balasubramaniam, Senduran and Burton, John and Danecek, Petr and Keane, Thomas M and Kolb-Kokocinski, Anja and McCarthy, Shane and Stalker, James and Quail, Michael and Davies, Christopher J and Gollub, Jeremy and Webster, Teresa and Wong, Brant and Zhan, Yiping and