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by Keeling, Patrick J and Burki, Fabien and Wilcox, Heather M and Allam, Bassem and Allen, Eric E and Amaral-Zettler, Linda A and Armbrust, E. Virginia and Archibald, John M and Bharti, Arvind K and Bell, Callum J and Beszteri, Bank and Bidle, Kay D and Cameron, Connor T and Campbell, Lisa and Caron, David A and Cattolico, Rose Ann and Collier, Jackie L and Coyne, Kathryn and Davy, Simon K and Deschamps, Phillipe and Dyhrman, Sonya T and Edvardsen, Bente and Gates, Ruth D and Gobler, Christopher J and Greenwood, Spencer J and Guida, Stephanie M and Jacobi, Jennifer L and Jakobsen, Kjetill S and James, Erick R and Jenkins, Bethany and John, Uwe and Johnson, Matthew D and Juhl, Andrew R and Kamp, Anja and Katz, Laura A and Kiene, Ronald and Kudryavtsev, Alexander and Leander, Brian S and Lin, Senjie and Lovejoy, Connie and Lynn, Denis and Marchetti, Adrian and McManus, George and Nedelcu, Aurora M and Menden-Deuer, Susanne and Miceli, Cristina and Mock, Thomas and Montresor, Marina and Moran, Mary Ann and Murray, Shauna and Nadathur, Govind and Nagai, Satoshi and Ngam, Peter B and Palenik, Brian and Pawlowski, Jan and Petroni, Giulio and Piganeau, Gwenael and Posewitz, Matthew C and Rengefors, Karin and Romano, Giovanna and Rumpho, Mary E and Rynearson, Tatiana and Schilling, Kelly B and Schroeder, Declan C and Simpson, Alastair G. B and Slamovits, Claudio H and Smith, David R and Smith, G. Jason and Smith, Sarah R and Sosik, Heidi M and Stief, Peter and Theriot, Edward and Twary, Scott N and Umale, Pooja E and Vaulot, Daniel and Wawrik, Boris and Wheeler, Glen L and Wilson, William H and Xu, Yan and Zingone, Adriana and Worden, Alexandra Z
PLoS Biology, ISSN 1544-9173, 2014, Volume 12, Issue 6, p. e1001889
Journal Article
by Zheng, Hou-Feng and Forgetta, Vincenzo and Hsu, Yi-Hsiang and Estrada, Karol and Rosello-Diez, Alberto and Leo, Paul J and Dahia, Chitra L and Park-Min, Kyung Hyun and Tobias, Jonathan H and Kooperberg, Charles and Kleinman, Aaron and Styrkarsdottir, Unnur and Liu, Ching-Ti and Uggla, Charlotta and Evans, Daniel S and Nielson, Carrie M and Walter, Klaudia and Pettersson-Kymmer, Ulrika and Mccarthy, Shane and Eriksson, Joel and Kwan, Tony and Jhamai, Mila and Trajanoska, Katerina and Memari, Yasin and Min, Josine and Huang, Jie and Danecek, Petr and Wilmot, Beth and Li, Rui and Chou, Wen-Chi and Mokry, Lauren E and Moayyeri, Alireza and Claussnitzer, Melina and Cheng, Chia-Ho and Cheung, Warren and Medina-Gómez, Carolina and Ge, Bing and Chen, Shu-Huang and Choi, Kwangbom and Oei, Ling and Fraser, James and Kraaij, Robert and Hibbs, Matthew A and Gregson, Celia L and Paquette, Denis and Hofman, Albert and Wibom, Carl and Tranah, Gregory J and Marshall, Mhairi and Gardiner, Brooke B and Cremin, Katie and Auer, Paul and Hsu, Li and Ring, Sue and Tung, Joyce Y and Thorleifsson, Gudmar and Enneman, Anke W and van Schoor, Natasja M and de Groot, Lisette C. P. G. M and van der Velde, Nathalie and Melin, Beatrice and Kemp, John P and Christiansen, Claus and Sayers, Aian and Zhou, Yanhua and Calderari, Sophie and van Rooij, Jeroen and Carlson, Chris and Peters, Ulrike and Berlivet, Soizik and Dostie, Josée and Uitterlinden, Ane G and Williams, Stephen R and Farber, Charles and Grinberg, Daniel and LaCroix, Anea Z and Haessler, Jeff and Chasman, Daniel I and Giulianini, Franco and Rose, Lynda M and Ridker, Paul M and Eisman, John A and Nguyen, Tuan V and Center, Jacqueline R and Nogues, Xavier and Garcia-Giralt, Natalia and Launer, Lenore L and Gudnason, Vilmunder and Mellström, Dan and Vandenput, Liesbeth and Amin, Najaf and van Duijn, Cornelia M and Karlsson, Magnus K and Ljunggren, Östen and Svensson, Olle and Hallmans, Göran and Rousseau, François and Giroux, Sylvie and Bussière, Johanne and Arp, Pascal P and ... and AOGC Consortium and UK10K Consortium and Medicinska fakulteten and Institutionen för strålningsvetenskaper and Umeå universitet and Institutionen för folkhälsa och klinisk medicin and Institutionen för farmakologi och klinisk neurovetenskap and Farmakologi and Enheten för biobanksforskning and Näringsforskning and Institutionen för kirurgisk och perioperativ vetenskap
Nature, ISSN 0028-0836, 2015, Volume 526, Issue 7571, pp. 112 - +
Journal Article
by Bentley, David R and Balasubramanian, Shankar and Swerdlow, Harold P and Smith, Geoffrey P and Milton, John and Brown, Clive G and Hall, Kevin P and Evers, Dirk J and Barnes, Colin L and Bignell, Helen R and Boutell, Jonathan M and Bryant, Jason and Carter, Richard J and Keira Cheetham, R and Cox, Anthony J and Ellis, Darren J and Flatbush, Michael R and Gormley, Niall A and Humphray, Sean J and Irving, Leslie J and Karbelashvili, Mirian S and Kirk, Scott M and Li, Heng and Liu, Xiaohai and Maisinger, Klaus S and Murray, Lisa J and Obradovic, Bojan and Ost, Tobias and Parkinson, Michael L and Pratt, Mark R and Rasolonjatovo, Isabelle M. J and Reed, Mark T and Rigatti, Roberto and Rodighiero, Chiara and Ross, Mark T and Sabot, Andrea and Sankar, Subramanian V and Scally, Aylwyn and Schroth, Gary P and Smith, Mark E and Smith, Vincent P and Spiridou, Anastassia and Torrance, Peta E and Tzonev, Svilen S and Vermaas, Eric H and Walter, Klaudia and Wu, Xiaolin and Zhang, Lu and Alam, Mohammed D and Anastasi, Carole and Aniebo, Ify C and Bailey, David M. D and Bancarz, Iain R and Banerjee, Saibal and Barbour, Selena G and Baybayan, Primo A and Benoit, Vincent A and Benson, Kevin F and Bevis, Claire and Black, Phillip J and Boodhun, Asha and Brennan, Joe S and Bridgham, John A and Brown, Rob C and Brown, Andrew A and Buermann, Dale H and Bundu, Abass A and Burrows, James C and Carter, Nigel P and Castillo, Nestor and Catenazzi, Maria Chiara E and Chang, Simon and Neil Cooley, R and Crake, Natasha R and Dada, Olubunmi O and Diakoumakos, Konstantinos D and Dominguez-Fernandez, Belen and Earnshaw, David J and Egbujor, Ugonna C and Elmore, David W and Etchin, Sergey S and Ewan, Mark R and Fedurco, Milan and Fraser, Louise J and Fuentes Fajardo, Karin V and Scott Furey, W and George, David and Gietzen, Kimberley J and Goddard, Colin P and Golda, George S and Granieri, Philip A and Green, David E and Gustafson, David L and Hansen, Nancy F and Harnish, Kevin and Haudenschild, Christian D and Heyer, Narinder I and Hims, Matthew M and Ho, Johnny T and Horgan, Adrian M and ...
Nature, ISSN 0028-0836, 11/2008, Volume 456, Issue 7218, pp. 53 - 59
Journal Article
Lancet, The, ISSN 0140-6736, 2007, Volume 369, Issue 9566, pp. 1000 - 1015
Journal Article
by McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and De Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature, ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article
by Altshuler, David L and Durbin, Richard M and Abecasis, Gonçalo R and Bentley, David R and Chakravarti, Aravinda and Clark, Andrew G and Collins, Francis S and De La Vega, Francisco M and Donnelly, Peter and Egholm, Michael and Flicek, Paul and Gabriel, Stacey B and Gibbs, Richard A and Knoppers, Bartha M and Lander, Eric S and Lehrach, Hans and Mardis, Elaine R and McVean, Gil A and Nickerson, Debbie A and Peltonen, Leena and Schafer, Alan J and Sherry, Stephen T and Wang, Jun and Wilson, Richard K and Deiros, David and Metzker, Mike and Muzny, Donna and Reid, Jeff and Wheeler, David and Wang, Shenzhen Jun and Li, Jingxiang and Jian, Min and Li, Guoqing and Li, Ruiqiang and Liang, Huiqing and Tian, Geng and Wang, Bo and Wang, Jian and Wang, Wei and Yang, Huanming and Zhang, Xiuqing and Zheng, Huisong and Ambrogio, Lauren and Bloom, Toby and Cibulskis, Kristian and Fennell, Tim J and Jaffe, David B and Shefler, Erica and Sougnez, Carrie L and Bentley, Illumina David R and Gormley, Niall and Humphray, Sean and Kingsbury, Zoya and Koko-Gonzales, Paula and Stone, Jennifer and Mc Kernan, Kevin J and Costa, Gina L and Ichikawa, Jeffry K and Lee, Clarence C and Sudbrak, Ralf and Borodina, Tatiana A and Dahl, Andreas and Davydov, Alexey N and Marquardt, Peter and Mertes, Florian and Nietfeld, Wilfiried and Rosenstiel, Philip and Schreiber, Stefan and Soldatov, Aleksey V and Timmermann, Bernd and Tolzmann, Marius and Affourtit, Jason and Ashworth, Dana and Attiya, Said and Bachorski, Melissa and Buglione, Eli and Burke, Adam and Caprio, Amanda and Celone, Christopher and Clark, Shauna and Conners, David and Desany, Brian and Gu, Lisa and Guccione, Lorri and Kao, Kalvin and Kebbel, Andrew and Knowlton, Jennifer and Labrecque, Matthew and McDade, Louise and Mealmaker, Craig and Minderman, Melissa and Nawrocki, Anne and Niazi, Faheem and Pareja, Kristen and Ramenani, Ravi and Riches, David and Song, Wanmin and Turcotte, Cynthia and Wang, Shally and Dooling, David and ... and 1000 Genomes Project Consortium and The 1000 Genomes Project Consortium
Nature, ISSN 0028-0836, 10/2010, Volume 467, Issue 7319, pp. 1061 - 1073
Journal Article