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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
Nature genetics, ISSN 1546-1718, 2014, Volume 46, Issue 10, pp. 1131 - 1134
Journal Article
by Küry, Sébastien and van Woerden, Geeske M and Besnard, Thomas and Proietti Onori, Martina and Latypova, Xénia and Towne, Meghan C and Cho, Megan T and Prescott, Trine E and Ploeg, Melissa A and Sanders, Stephan and Stessman, Holly A.F and Pujol, Aurora and Distel, Ben and Robak, Laurie A and Bernstein, Jonathan A and Denommé-Pichon, Anne-Sophie and Lesca, Gaëtan and Sellars, Elizabeth A and Berg, Jonathan and Carré, Wilfrid and Busk, Øyvind Løvold and van Bon, Bregje W.M and Waugh, Jeff L and Deardorff, Matthew and Hoganson, George E and Bosanko, Katherine B and Johnson, Diana S and Dabir, Tabib and Holla, Øystein Lunde and Sarkar, Ajoy and Tveten, Kristian and de Bellescize, Julitta and Braathen, Geir J and Terhal, Paulien A and Grange, Dorothy K and van Haeringen, Arie and Lam, Christina and Mirzaa, Ghayda and Burton, Jennifer and Bhoj, Elizabeth J and Douglas, Jessica and Santani, Avni B and Nesbitt, Addie I and Helbig, Katherine L and Andrews, Marisa V and Begtrup, Amber and Tang, Sha and van Gassen, Koen L.I and Juusola, Jane and Foss, Kimberly and Enns, Gregory M and Moog, Ute and Hinderhofer, Katrin and Paramasivam, Nagarajan and Lincoln, Sharyn and Kusako, Brandon H and Lindenbaum, Pierre and Charpentier, Eric and Nowak, Catherine B and Cherot, Elouan and Simonet, Thomas and Ruivenkamp, Claudia A.L and Hahn, Sihoun and Brownstein, Catherine A and Xia, Fan and Schmitt, Sébastien and Deb, Wallid and Bonneau, Dominique and Nizon, Mathilde and Quinquis, Delphine and Chelly, Jamel and Rudolf, Gabrielle and Sanlaville, Damien and Parent, Philippe and Gilbert-Dussardier, Brigitte and Toutain, Annick and Sutton, Vernon R and Thies, Jenny and Peart-Vissers, Lisenka E.L.M and Boisseau, Pierre and Vincent, Marie and Grabrucker, Andreas M and Dubourg, Christèle and Tan, Wen-Hann and Verbeek, Nienke E and Granzow, Martin and Santen, Gijs W.E and Shendure, Jay and Isidor, Bertrand and Pasquier, Laurent and Redon, Richard and Yang, Yaping and State, Matthew W and Kleefstra, Tjitske and Cogné, Benjamin and Petrovski, Slavé and Retterer, Kyle and Eichler, Evan E and Rosenfeld, Jill A and Agrawal, Pankaj B and ... and Deciphering Developmental Disorders Study and GEM HUGO and Undiagnosed Diseases Network and Deciphering Dev Dis Study and Undiagnosed Dis Network
American journal of human genetics, ISSN 0002-9297, 2017, Volume 101, Issue 5, pp. 768 - 788
Journal Article
Nature communications, ISSN 2041-1723, 2019, Volume 10, Issue 1, pp. 4679 - 17
Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. Here, we present detailed... 
yes | DE-NOVO MUTATIONS | MEMORY | ANNOTATION | MULTIDISCIPLINARY SCIENCES | GENES | FRAMEWORK | SYNAPTIC DEVELOPMENT | RESOURCE | Humans | Child, Preschool | Male | Developmental Disabilities - genetics | Neurodevelopmental Disorders - genetics | Neurodevelopmental Disorders - psychology | Drosophila Proteins - metabolism | Intellectual Disability - genetics | Behavior, Animal | Brain - metabolism | Young Adult | Language Development Disorders - psychology | Mental Disorders - genetics | Muscle Proteins - metabolism | Adult | Epilepsy - genetics | Female | Membrane Proteins - metabolism | Neurons - metabolism | Child | Craniofacial Abnormalities - genetics | Autistic Disorder - genetics | Language Development Disorders - genetics | Membrane Proteins - genetics | Autistic Disorder - psychology | Whole Exome Sequencing | Mental Disorders - psychology | Muscle Proteins - genetics | Nerve Tissue Proteins - metabolism | Proteins - genetics | Animals | Proteins - metabolism | Adolescent | Intellectual Disability - psychology | Neuroglia - metabolism | Drosophila Proteins - genetics | Mutation | Drosophila melanogaster | Developmental Disabilities - psychology | Mental disorders | Drosophila | Epilepsy | Disorders | Glial cells | Neurodevelopmental disorders | Patients | Neuronal-glial interactions | Proteins | Autism | Disruption | Postsynaptic density | Life Sciences | Genetics | Human genetics
Journal Article
Journal Article
Science (American Association for the Advancement of Science), ISSN 1095-9203, 2015, Volume 319, Issue 5859, pp. 33 - 33
We used authentication tests developed for ancient DNA to evaluate claims by Asara et al. (Reports, 13 April 2007, p. 280) of collagen peptide sequences... 
ANCIENT DNA | MULTIDISCIPLINARY SCIENCES | COLLAGEN | Dinosaurs | Amino Acid Sequence | Animals | Bone and Bones - chemistry | Mass Spectrometry | Collagen - chemistry | Phylogeny | Elephants | Fossils
Journal Article
by Figlioli, Gisella and Bogliolo, Massimo and Catucci, Irene and Caleca, Laura and Lasheras, Sandra Viz and Pujol, Roser and Kiiski, Johanna I and Muranen, Taru A and Barnes, Daniel R and Dennis, Joe and Michailidou, Kyriaki and Bolla, Manjeet K and Leslie, Goska and Aalfs, Cora M and Adank, Muriel A and Adlard, Julian and Agata, Simona and Cadoo, Karen and Agnarsson, Bjarni A and Ahearn, Thomas and Aittomäki, Kristiina and Ambrosone, Christine B and Andrews, Lesley and Anton-Culver, Hoda and Antonenkova, Natalia N and Arndt, Volker and Arnold, Norbert and Aronson, Kristan J and Arun, Banu K and Asseryanis, Ella and Auber, Bernd and Auvinen, Päivi and Azzollini, Jacopo and Balmaña, Judith and Barkardottir, Rosa B and Barrowdale, Daniel and Barwell, Julian and Beane Freeman, Laura E and Beauparlant, Charles Joly and Beckmann, Matthias W and Behrens, Sabine and Benitez, Javier and Berger, Raanan and Bermisheva, Marina and Blanco, Amie M and Blomqvist, Carl and Bogdanova, Natalia V and Bojesen, Anders and Bojesen, Stig E and Bonanni, Bernardo and Borg, Ake and Brady, Angela F and Brauch, Hiltrud and Brenner, Hermann and Brüning, Thomas and Burwinkel, Barbara and Buys, Saundra S and Caldés, Trinidad and Caliebe, Almuth and Caligo, Maria A and Campa, Daniele and Campbell, Ian G and Canzian, Federico and Castelao, Jose E and Chang-Claude, Jenny and Chanock, Stephen J and Claes, Kathleen B. M and Clarke, Christine L and Collavoli, Anita and Conner, Thomas A and Cox, David G and Cybulski, Cezary and Czene, Kamila and Daly, Mary B and de la Hoya, Miguel and Devilee, Peter and Diez, Orland and Ding, Yuan Chun and Dite, Gillian S and Ditsch, Nina and Domchek, Susan M and Dorfling, Cecilia M and dos-Santos-Silva, Isabel and Durda, Katarzyna and Dwek, Miriam and Eccles, Diana M and Ekici, Arif B and Eliassen, A. Heather and Ellberg, Carolina and Eriksson, Mikael and Evans, D. Gareth and Fasching, Peter A and Figueroa, Jonine and Flyger, Henrik and Foulkes, William D and Friebel, Tara M and Friedman, Eitan and Gabrielson, Marike and Gaddam, Pragna and Gago-Dominguez, Manuela and ... and ABCTB Investigators and KConFab and GEMO Study Collaborators and KConFab Investigators
NPJ breast cancer, ISSN 2374-4677, 2019, Volume 5, Issue 1, pp. 1 - 14
Journal Article
The Astrophysical journal, ISSN 0004-637X, 2017, Volume 839, Issue 1, p. 43
Journal Article
by Tsoi, Lam C and Spain, Sarah L and Knight, Jo and Ellinghaus, Eva and Stuart, Philip E and Capon, Francesca and Ding, Jun and Li, Yanming and Tejasvi, Trilokraj and Gudjonsson, Johann E and Kang, Hyun M and Allen, Michael H and McManus, Ross and Novelli, Giuseppe and Samuelsson, Lena and Schalkwijk, Joost and Ståhle, Mona and Burden, A David and Smith, Catherine H and Cork, Michael J and Estivill, Xavier and Bowcock, Anne M and Krueger, Gerald G and Weger, Wolfgang and Worthington, Jane and Tazi-Ahnini, Rachid and Nestle, Frank O and Hayday, Adrian and Hoffmann, Per and Winkelmann, Juliane and Wijmenga, Cisca and Langford, Cordelia and Edkins, Sarah and Andrews, Robert and Blackburn, Hannah and Strange, Amy and Band, Gavin and Pearson, Richard D and Vukcevic, Damjan and Spencer, Chris C A and Deloukas, Panos and Mrowietz, Ulrich and Schreiber, Stefan and Weidinger, Stephan and Koks, Sulev and Kingo, Külli and Esko, Tonu and Metspalu, Andres and Lim, Henry W and Voorhees, John J and Weichenthal, Michael and Wichmann, H Erich and Chandran, Vinod and Rosen, Cheryl F and Rahman, Proton and Gladman, Dafna D and Griffiths, Christopher E M and Reis, Andre and Kere, Juha and Nair, Rajan P and Franke, Andre and Barker, Jonathan N W N and Abecasis, Goncalo R and Elder, James T and Trembath, Richard C and Psoriasis Association Genetics Extension and Genetic Analysis of Psoriasis Consortium and Collaborative Association Study of Psoriasis (CASP) and Wellcome Trust Case Control Consortium 2 and Collaborative Assoc Study Psoriasi and Psoriasis Assoc Genetics Extension and Genetic Anal Psoriasis Consortium and Wellcome Trust Case Control Consor and Sahlgrenska akademin and Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik and Göteborgs universitet and Gothenburg University and Institute of Biomedicine, Department of Medical and Clinical Genetics and Sahlgrenska Academy
Nature genetics, ISSN 1546-1718, 2012, Volume 44, Issue 12, pp. 1341 - 1348
To gain further insight into the genetic architecture of psoriasis, we conducted a meta-analysis of 3 genome-wide association studies (GWAS) and 2 independent... 
COMMON VARIANTS | SIGNALING PATHWAYS | MULTIPLE COMMON | INTERFERON-GAMMA | TH17 DIFFERENTIATION | GENETICS & HEREDITY | GENE-EXPRESSION | T-CELL DEVELOPMENT | GENOME-WIDE ASSOCIATION | CELIAC-DISEASE | NEGATIVE REGULATOR | Oligonucleotide Array Sequence Analysis | Humans | Immunity, Innate - genetics | Genetic Loci | CARD Signaling Adaptor Proteins - genetics | Psoriasis - genetics | Core Binding Factor Alpha 3 Subunit - immunology | STAT3 Transcription Factor - genetics | Skin - immunology | Psoriasis - immunology | CARD Signaling Adaptor Proteins - immunology | DEAD Box Protein 58 | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Guanylate Cyclase - immunology | Membrane Proteins - genetics | Membrane Proteins - immunology | GTPase-Activating Proteins - immunology | DEAD-box RNA Helicases - genetics | Core Binding Factor Alpha 3 Subunit - genetics | DEAD-box RNA Helicases - immunology | Guanylate Cyclase - genetics | T-Lymphocytes - immunology | Polymorphism, Single Nucleotide | GTPase-Activating Proteins - genetics | STAT3 Transcription Factor - immunology | Psoriasis | Physiological aspects | Disease susceptibility | Genetic aspects | Research | Autoimmune diseases | Gene expression | Chromosomes | Risk factors | genetic analysis | innate immunity | Dermatologi och venereologi | Dermatology and Venereal Diseases | psoriasis
Journal Article