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by Stein, Jason L and Medland, Sarah E and Vasquez, Alejandro Arias and Hibar, Derrek P and Senstad, Rudy E and Winkler, Anderson M and Toro, Roberto and Appel, Katja and Bartecek, Richard and Bergmann, Ørjan and Bernard, Manon and Brown, Andrew A and Cannon, Dara M and Chakravarty, M Mallar and Christoforou, Andrea and Domin, Martin and Grimm, Oliver and Hollinshead, Marisa and Holmes, Avram J and Homuth, Georg and Hottenga, Jouke-Jan and Langan, Camilla and Lopez, Lorna M and Hansell, Narelle K and Hwang, Kristy S and Kim, Sungeun and Laje, Gonzalo and Lee, Phil H and Liu, Xinmin and Loth, Eva and Lourdusamy, Anbarasu and Mattingsdal, Morten and Mohnke, Sebastian and Maniega, Susana Muñoz and Nho, Kwangsik and Nugent, Allison C and O'Brien, Carol and Papmeyer, Martina and Pütz, Benno and Ramasamy, Adaikalavan and Rasmussen, Jerod and Rijpkema, Mark and Risacher, Shannon L and Roddey, J Cooper and Rose, Emma J and Ryten, Mina and Shen, Li and Sprooten, Emma and Strengman, Eric and Teumer, Alexander and Trabzuni, Daniah and Turner, Jessica and van Eijk, Kristel and van Erp, Theo G M and van Tol, Marie-Jose and Wittfeld, Katharina and Wolf, Christiane and Woudstra, Saskia and Aleman, Andre and Alhusaini, Saud and Almasy, Laura and Binder, Elisabeth B and Brohawn, David G and Cantor, Rita M and Carless, Melanie A and Corvin, Aiden and Czisch, Michael and Curran, Joanne E and Davies, Gail and de Almeida, Marcio A A and Delanty, Norman and Depondt, Chantal and Duggirala, Ravi and Dyer, Thomas D and Erk, Susanne and Fagerness, Jesen and Fox, Peter T and Freimer, Nelson B and Gill, Michael and Göring, Harald H H and Hagler, Donald J and Hoehn, David and Holsboer, Florian and Hoogman, Martine and Hosten, Norbert and Jahanshad, Neda and Johnson, Matthew P and Kasperaviciute, Dalia and Kent, Jack W and Kochunov, Peter and Lancaster, Jack L and Lawrie, Stephen M and Liewald, David C and Mandl, René and Matarin, Mar and Mattheisen, Manuel and Meisenzahl, Eva and Melle, Ingrid and Moses, Eric K and Mühleisen, Thomas W and ... and the Alzheimer's Disease Neuroimaging Initiative (ADNI) and EPIGEN Consortium and Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium and Saguenay Youth Study Group (SYS) and for the Enhancing Neuro Imaging Genetics through Meta-Analysis (ENIGMA) Consortium and IMAGEN Consortium and Cohorts Heart Aging Res Genomic Ep and ADNI and Saguenay Youth Study Grp SYS and Enhancing Neuro Imaging Genetics M and Alzheimer's Disease Neuroimaging Initiative and Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium and Saguenay Youth Study Group and Enhancing Neuro Imaging Genetics through Meta-Analysis Consortium
Nature genetics, ISSN 1546-1718, 2012, Volume 44, Issue 5, pp. 552 - 561
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 (London), ISSN 1476-4687, 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 Hibar, Derrek P and Stein, Jason L and Renteria, Miguel E and Arias-Vasquez, Alejandro and Desrivières, Sylvane and Jahanshad, Neda and Toro, Roberto and Wittfeld, Katharina and Abramovic, Lucija and Andersson, Micael and Aribisala, Benjamin S and Armstrong, Nicola J and Bernard, Manon and Bohlken, Marc M and Boks, Marco P and Bralten, Janita and Brown, Andrew A and Mallar Chakravarty, M and Chen, Qiang and Ching, Christopher R. K and Cuellar-Partida, Gabriel and den Braber, Anouk and Giddaluru, Sudheer and Goldman, Aaron L and Grimm, Oliver and Guadalupe, Tulio and Hass, Johanna and Woldehawariat, Girma and Holmes, Avram J and Hoogman, Martine and Janowitz, Deborah and Jia, Tianye and Kim, Sungeun and Klein, Marieke and Kraemer, Bernd and Lee, Phil H and Olde Loohuis, Loes M and Luciano, Michelle and Macare, Christine and Mather, Karen A and Mattheisen, Manuel and Milaneschi, Yuri and Nho, Kwangsik and Papmeyer, Martina and Ramasamy, Adaikalavan and Risacher, Shannon L and Roiz-Santiañez, Roberto and Rose, Emma J and Salami, Alireza and Sämann, Philipp G and Schmaal, Lianne and Schork, Andrew J and Shin, Jean and Strike, Lachlan T and Teumer, Alexander and van Donkelaar, Marjolein M. J and van Eijk, Kristel R and Walters, Raymond K and Westlye, Lars T and Whelan, Christopher D and Winkler, Anderson M and Zwiers, Marcel P and Alhusaini, Saud and Athanasiu, Lavinia and Ehrlich, Stefan and Hakobjan, Marina M. H and Hartberg, Cecilie B and Haukvik, Unn K and Heister, Angelien J. G. A. M and Hoehn, David and Kasperaviciute, Dalia and Liewald, David C. M and Lopez, Lorna M and Makkinje, Remco R. R and Matarin, Mar and Naber, Marlies A. M and Reese McKay, D and Needham, Margaret and Nugent, Allison C and Pütz, Benno and Royle, Natalie A and Shen, Li and Sprooten, Emma and Trabzuni, Daniah and van der Marel, Saskia S. L and van Hulzen, Kimm J. E and Walton, Esther and Wolf, Christiane and Almasy, Laura and Ames, David and Arepalli, Sampath and Assareh, Amelia A and Bastin, Mark E and Brodaty, Henry and Bulayeva, Kazima B and Carless, Melanie A and Cichon, Sven and Corvin, Aiden and Curran, Joanne E and Czisch, Michael and ... and The Alzheimer’s Disease Neuroimaging Initiative and EPIGEN and SYS and The CHARGE Consortium and IMAGEN and Alzheimers Dis Neuroimaging and CHARGE Consortium and Alzheimer’s Disease Neuroimaging Initiative and Medicinska fakulteten and Umeå centrum för funktionell hjärnavbildning (UFBI) and Umeå universitet
Nature (London), ISSN 1476-4687, 2015, Volume 520, Issue 7546, pp. 224 - 229
Journal Article
by Faundes, Víctor and Newman, William G and Bernardini, Laura and Canham, Natalie and Clayton-Smith, Jill and Dallapiccola, Bruno and Davies, Sally J and Demos, Michelle K and Goldman, Amy and Gill, Harinder and Horton, Rachel and Kerr, Bronwyn and Kumar, Dhavendra and Lehman, Anna and McKee, Shane and Morton, Jenny and Parker, Michael J and Rankin, Julia and Robertson, Lisa and Temple, I. Karen and Banka, Siddharth and Adam, Shelin and du Souich, Christèle and Elliott, Alison M and Mwenifumbo, Jill and Nelson, Tanya N and van Karnebeek, Clara and Friedman, Jan M and 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 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 Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan 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 ... and Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study and The Deciphering Developmental Disorders (DDD) Study and Clin Assessment Utility Sequencin and Deciphering Dev Disorders DD and Deciphering Developmental Disorders (DDD) Study
American journal of human genetics, ISSN 0002-9297, 2018, Volume 102, Issue 1, pp. 175 - 187
Journal Article
by Lek, Monkol and Karczewski, Konrad J and Minikel, Eric V and Samocha, Kaitlin E and Banks, Eric and Fennell, Timothy and O’Donnell-Luria, Anne H and Ware, James S and Hill, Andrew J and Cummings, Beryl B and Tukiainen, Taru and Birnbaum, Daniel P and Kosmicki, Jack A and Duncan, Laramie E and Estrada, Karol and Zhao, Fengmei and Zou, James and Pierce-Hoffman, Emma and Berghout, Joanne and Cooper, David N and Deflaux, Nicole and DePristo, Mark and Do, Ron and Flannick, Jason and Fromer, Menachem and Gauthier, Laura and Goldstein, Jackie and Gupta, Namrata and Howrigan, Daniel and Kiezun, Adam and Kurki, Mitja I and Moonshine, Ami Levy and Natarajan, Pradeep and Orozco, Lorena and Peloso, Gina M and Poplin, Ryan and Rivas, Manuel A and Ruano-Rubio, Valentin and Rose, Samuel A and Ruderfer, Douglas M and Shakir, Khalid and Stenson, Peter D and Stevens, Christine and Thomas, Brett P and Tiao, Grace and Tusie-Luna, Maria T and Weisburd, Ben and Won, Hong-Hee and Yu, Dongmei and Altshuler, David M and Ardissino, Diego and Boehnke, Michael and Danesh, John and Donnelly, Stacey and Elosua, Roberto and Florez, Jose C and Gabriel, Stacey B and Getz, Gad and Glatt, Stephen J and Hultman, Christina M and Kathiresan, Sekar and Laakso, Markku and McCarroll, Steven and McCarthy, Mark I and McGovern, Dermot and McPherson, Ruth and Neale, Benjamin M and Palotie, Aarno and Purcell, Shaun M and Saleheen, Danish and Scharf, Jeremiah M and Sklar, Pamela and Sullivan, Patrick F and Tuomilehto, Jaakko and Tsuang, Ming T and Watkins, Hugh C and Wilson, James G and Daly, Mark J and MacArthur, Daniel G and Exome Aggregation Consortium
Nature (London), ISSN 1476-4687, 2016, Volume 536, Issue 7616, pp. 285 - 291
...Author(s): Monkol Lek [1, 2, 3, 4]; Konrad J. Karczewski [1, 2]; Eric V. Minikel [1, 2, 5]; Kaitlin E. Samocha [1, 2, 5, 6]; Eric Banks [2]; Timothy Fennell [2... 
HUMAN-DISEASE | EVOLUTION | MULTIDISCIPLINARY SCIENCES | MUTATION | GUIDELINES | FRAMEWORK | SEQUENCE VARIANTS | NETWORKS | DISCOVERY | HUMAN-POPULATION HISTORY | Genetic aspects | Research | Man | Human beings | Genetic variation | Analysis | Datasets | Proteins | Databases | Disease | Genes | Principal components analysis | Genetics | Genomes
Journal Article