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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
Nature (London), ISSN 1476-4687, 2014, Volume 507, Issue 7492, pp. 371 - 375
Journal Article
by Wheway, Gabrielle and Schmidts, Miriam and Mans, Dorus A and Szymanska, Katarzyna and Nguyen, Thanh-Minh T and Racher, Hilary and Phelps, Ian G and Toedt, Grischa and Kennedy, Julie and Wunderlich, Kirsten A and Sorusch, Nasrin and Abdelhamed, Zakia A and Natarajan, Subaashini and Herridge, Warren and van Reeuwijk, Jeroen and Horn, Nicola and Boldt, Karsten and Parry, David A and Letteboer, Stef J. F and Roosing, Susanne and Adams, Matthew and Bell, Sandra M and Bond, Jacquelyn and Higgins, Julie and Morrison, Ewan E and Tomlinson, Darren C and Slaats, Gisela G and van Dam, Teunis J. P and Huang, Lijia and Kessler, Kristin and Giessl, Andreas and Logan, Clare V and Boyle, Evan A and Shendure, Jay and Anazi, Shamsa and Aldahmesh, Mohammed and Al Hazzaa, Selwa and Hegele, Robert A and Ober, Carole and Frosk, Patrick and Mhanni, Aizeddin A and Chodirker, Bernard N and Chudley, Albert E and Lamont, Ryan and Bernier, Francois P and Beaulieu, Chandree L and Gordon, Paul and Pon, Richard T and Donahue, Clem and Barkovich, A. James and Wolf, Louis and Toomes, Carmel and Thiel, Christian T and Boycott, Kym M and McKibbin, Martin and Inglehearn, Chris F and Stewart, Fiona and Omran, Heymut and Huynen, Martijn A and Sergouniotis, Panagiotis I and Alkuraya, Fowzan S and Parboosingh, Jillian S and Innes, A. Micheil and Willoughby, Colin E and Giles, Rachel H and Webster, Andrew R and Ueffing, Marius and Blacque, Oliver and Gleeson, Joseph G and Wolfrum, Uwe and Beales, Philip L and Gibson, Toby and Doherty, Dan and Mitchison, Hannah M and Roepman, Ronald and Johnson, Colin A and University of Washington Center for Mendelian Genomics and UK10K Consortium and Univ Washington Ctr Mendelian Geno
Nature cell biology, ISSN 1476-4679, 2015, Volume 17, Issue 8, pp. 1074 - 1087
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders... 
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 | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
Journal Article
by Bailey, Peter and Chang, David K and Nones, Katia and Johns, Amber L and Patch, Ann-Marie and Gingras, Marie-Claude and Miller, David K and Christ, Angelika N and Bruxner, Tim J. C and Quinn, Michael C and Nourse, Craig and Murtaugh, L. Charles and Harliwong, Ivon and Idrisoglu, Senel and Manning, Suzanne and Nourbakhsh, Ehsan and Wani, Shivangi and Fink, Lynn and Holmes, Oliver and Chin, Venessa and Anderson, Matthew J and Kazakoff, Stephen and Leonard, Conrad and Newell, Felicity and Waddell, Nick and Wood, Scott and Xu, Qinying and Wilson, Peter J and Cloonan, Nicole and Kassahn, Karin S and Taylor, Darrin and Quek, Kelly and Robertson, Alan and Pantano, Lorena and Mincarelli, Laura and Sanchez, Luis N and Evers, Lisa and Wu, Jianmin and Pinese, Mark and Cowley, Mark J and Jones, Marc D and Colvin, Emily K and Nagrial, Adnan M and Humphrey, Emily S and Chantrill, Lorraine A and Mawson, Amanda and Humphris, Jeremy and Chou, Angela and Pajic, Marina and Scarlett, Christopher J and Pinho, Andreia V and Giry-Laterriere, Marc and Rooman, Ilse and Samra, Jaswinder S and Kench, James G and Lovell, Jessica A and Merrett, Neil D and Toon, Christopher W and Epari, Krishna and Nguyen, Nam Q and Barbour, Andrew and Zeps, Nikolajs and Moran-Jones, Kim and Jamieson, Nigel B and Graham, Janet S and Duthie, Fraser and Oien, Karin and Hair, Jane and Grützmann, Robert and Maitra, Anirban and Iacobuzio-Donahue, Christine A and Wolfgang, Christopher L and Morgan, Richard A and Lawlor, Rita T and Corbo, Vincenzo and Bassi, Claudio and Rusev, Borislav and Capelli, Paola and Salvia, Roberto and Tortora, Giampaolo and Mukhopadhyay, Debabrata and Petersen, Gloria M and Munzy, Donna M and Fisher, William E and Karim, Saadia A and Eshleman, James R and Hruban, Ralph H and Pilarsky, Christian and Morton, Jennifer P and Sansom, Owen J and Scarpa, Aldo and Musgrove, Elizabeth A and Bailey, Ulla-Maja Hagbo and Hofmann, Oliver and Sutherland, Robert L and Wheeler, David A and Gill, Anthony J and Gibbs, Richard A and Pearson, John V and Waddell, Nicola and ... and Australian Pancreatic Cancer Genome Initiative and Australian Pancreatic Canc Genome
Nature (London), ISSN 1476-4687, 2016, Volume 531, Issue 7592, pp. 47 - 52
Integrated genomic analysis of 456 pancreatic ductal adenocarcinomas identified 32 recurrently mutated genes that aggregate into 10 pathways: KRAS, TGF-beta,... 
PATHWAYS | METASTASIS | DUCTAL ADENOCARCINOMA | PACKAGE | MULTIDISCIPLINARY SCIENCES | TUMOR | MUTATIONS | DIFFERENTIATION | Pancreatic Neoplasms - metabolism | Prognosis | Hepatocyte Nuclear Factor 3-beta - genetics | Genomics | Humans | Carcinoma, Pancreatic Ductal - metabolism | Gene Expression Regulation, Neoplastic | Transcriptome | Hepatocyte Nuclear Factor 3-gamma - genetics | Gene Regulatory Networks | Histone Demethylases - genetics | Tumor Suppressor Protein p53 - genetics | Carcinoma, Pancreatic Ductal - genetics | DNA Methylation | Tumor Suppressor Proteins - genetics | Carcinoma, Pancreatic Ductal - classification | Trans-Activators - genetics | Pancreatic Neoplasms - classification | Transcription, Genetic | Nuclear Proteins - genetics | Carcinoma, Pancreatic Ductal - immunology | Genes, Neoplasm - genetics | Basic Helix-Loop-Helix Transcription Factors - genetics | Pancreatic Neoplasms - pathology | Zebrafish Proteins | Pancreatic Neoplasms - genetics | Receptors, Cytoplasmic and Nuclear - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Carcinoma, Pancreatic Ductal - pathology | Genome, Human - genetics | Homeodomain Proteins - genetics | Animals | Pancreatic Neoplasms - immunology | Survival Analysis | Cell Line, Tumor | Mice | Physiological aspects | Pancreatic cancer | Methods | Genes | Genomes | Mutation | Gene expression | Tumors
Journal Article
by Howe, Kerstin and Clark, Matthew D and Torroja, Carlos F and Torrance, James and Berthelot, Camille and Muffato, Matthieu and Collins, John E and Humphray, Sean and McLaren, Karen and Matthews, Lucy and McLaren, Stuart and Sealy, Ian and Caccamo, Mario and Churcher, Carol and Scott, Carol and Barrett, Jeffrey C and Koch, Romke and Rauch, Gerd-Jörg and White, Simon and Chow, William and Kilian, Britt and Quintais, Leonor T and Guerra-Assunção, José A and Zhou, Yi and Gu, Yong and Yen, Jennifer and Vogel, Jan-Hinnerk and Eyre, Tina and Redmond, Seth and Banerjee, Ruby and Chi, Jianxiang and Fu, Beiyuan and Langley, Elizabeth and Maguire, Sean F and Laird, Gavin K and Lloyd, David and Kenyon, Emma and Donaldson, Sarah and Sehra, Harminder and Almeida-King, Jeff and Loveland, Jane and Trevanion, Stephen and Jones, Matt and Quail, Mike and Willey, Dave and Hunt, Adrienne and Burton, John and Sims, Sarah and McLay, Kirsten and Plumb, Bob and Davis, Joy and Clee, Chris and Oliver, Karen and Clark, Richard and Riddle, Clare and Elliott, David and Threadgold, Glen and Harden, Glenn and Ware, Darren and Begum, Sharmin and Mortimore, Beverley and Kerry, Giselle and Heath, Paul and Phillimore, Benjamin and Tracey, Alan and Corby, Nicole and Dunn, Matthew and Johnson, Christopher and Wood, Jonathan and Clark, Susan and Pelan, Sarah and Griffiths, Guy and Smith, Michelle and Glithero, Rebecca and Howden, Philip and Barker, Nicholas and Lloyd, Christine and Stevens, Christopher and Harley, Joanna and Holt, Karen and Panagiotidis, Georgios and Lovell, Jamieson and Beasley, Helen and Henderson, Carl and Gordon, Daria and Auger, Katherine and Wright, Deborah and Collins, Joanna and Raisen, Claire and Dyer, Lauren and Leung, Kenric and Robertson, Lauren and Ambridge, Kirsty and Leongamornlert, Daniel and McGuire, Sarah and Gilderthorp, Ruth and Griffiths, Coline and Manthravadi, Deepa and Nichol, Sarah and Barker, Gary and ...
Nature (London), ISSN 1476-4687, 2013, Volume 496, Issue 7446, pp. 498 - 503
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 2014, Volume 111, Issue 11, pp. 4197 - 4202
Journal Article