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2007, Film and culture, ISBN 9780231139540, x, 265
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Journal of Clinical Epidemiology, ISSN 0895-4356, 2016, Volume 73, pp. 1 - 1
  David Cella leads an impressive series team reporting on the progress of the PROMIS initiative [Patient Reported Outcomes Measurement Information System] one... 
Internal Medicine | PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH | HEALTH CARE SCIENCES & SERVICES | History, 21st Century | United States | History, 20th Century | Humans | Evidence-Based Medicine - history | Medical research | Epidemiology
Journal Article
by Pereyra, Florencia and Jia, Xiaoming and McLaren, Paul J and Telenti, Amalio and de Bakker, Paul I. W and Walker, Bruce D and Ripke, Stephan and Brumme, Chanson J and Pulit, Sara L and Carrington, Mary and Kadie, Carl M and Carlson, Jonathan M and Heckerman, David and Graham, Robert R and Plenge, Robert M and Deeks, Steven G and Gianniny, Lauren and Crawford, Gabriel and Sullivan, Jordan and Gonzalez, Elena and Davies, Leela and Camargo, Amy and Moore, Jamie M and Beattie, Nicole and Gupta, Supriya and Crenshaw, Anew and Burtt, Noël P and Guiducci, Candace and Gupta, Namrata and Gao, Xiaojiang and Qi, Ying and Yuki, Yuko and Piechocka-Trocha, Alicja and Cutrell, Emily and Rosenberg, Rachel and Moss, Kristin L and Lemay, Paul and O'Leary, Jessica and Schaefer, Todd and Verma, Pranshu and Toth, Ildiko and Block, Brian and Baker, Brett and Rothchild, Alissa and Lian, Jeffrey and Proudfoot, Jacqueline and Alvino, Donna Marie L and Vine, Seanna and Addo, Marylyn M and Allen, Todd M and Altfeld, Marcus and Henn, Matthew R and Le Gall, Sylvie and Streeck, Henik and Haas, David W and Kuritzkes, Daniel R and Robbins, Gregory K and Shafer, Robert W and Gulick, Roy M and Shikuma, Cecilia M and Haubrich, Richard and Riddler, Sharon and Sax, Paul E and Daar, Eric S and Ribaudo, Heather J and Agan, Brian and Agarwal, Shanu and Ahern, Richard L and Allen, Brady L and Altidor, Sherly and Altschuler, Eric L and Ambardar, Sujata and Anastos, Kathryn and Anderson, Ben and Anderson, Val and Anady, Ushan and Antoniskis, Diana and Bangsberg, David and Barbaro, Daniel and Barrie, William and Bartczak, J and Barton, Simon and Basden, Patricia and Basgoz, Nesli and Bazner, Suzane and Bellos, Nicholaos C and Benson, Anne M and Berger, Judith and Bernard, Nicole F and Bernard, Annette M and Birch, Christopher and Bodner, Stanley J and Bolan, Robert K and Boueaux, Emilie T and Bradley, Meg and Braun, James F and Brndjar, Jon E and Brown, Stephen J and Brown, Katherine and Brown, Sheldon T and ... and Int HIV Controllers Study and International HIV Controllers Study and The International HIV Controllers Study
Science, ISSN 0036-8075, 12/2010, Volume 330, Issue 6010, pp. 1551 - 1557
Journal Article
by Do, Ron and Stitziel, Nathan O and Won, Hong-Hee and Jørgensen, Anders Berg and Duga, Stefano and Angelica Merlini, Pier and Kiezun, Adam and Farrall, Martin and Goel, Anuj and Zuk, Or and Guella, Illaria and Asselta, Rosanna and Lange, Leslie A and Peloso, Gina M and Auer, Paul L and Girelli, Domenico and Martinelli, Nicola and Farlow, Deborah N and DePristo, Mark A and Roberts, Robert and Stewart, Alexander F. R and Saleheen, Danish and Danesh, John and Epstein, Stephen E and Sivapalaratnam, Suthesh and Hovingh, G. Kees and Kastelein, John J and Samani, Nilesh J and Schunkert, Heribert and Erdmann, Jeanette and Shah, Svati H and Kraus, William E and Davies, Robert and Nikpay, Majid and Johansen, Christopher T and Wang, Jian and Hegele, Robert A and Hechter, Eliana and Marz, Winfried and Kleber, Marcus E and Huang, Jie and Johnson, Anew D and Li, Mingyao and Burke, Greg L and Gross, Myron and Liu, Yongmei and Assimes, Themistocles L and Heiss, Gerardo and Lange, Ethan M and Folsom, Aaron R and Taylor, Herman A and Olivieri, Oliviero and Hamsten, Anders and Clarke, Robert and Reilly, Dermot F and Yin, Wu and Rivas, Manuel A and Donnelly, Peter and Rossouw, Jacques E and Psaty, Bruce M and Herrington, David M and Wilson, James G and Rich, Stephen S and Bamshad, Michael J and Tracy, Russell P and Cupples, L. Aienne and Rader, Daniel J and Reilly, Muredach P and Spertus, John A and Cresci, Sharon and Hartiala, Jaana and Tang, W. H. Wilson and Hazen, Stanley L and Allayee, Hooman and Reiner, Alex P and Carlson, Christopher S and Kooperberg, Charles and Jackson, Rebecca D and Boerwinkle, Eric and Lander, Eric S and Schwartz, Stephen M and Siscovick, David S and McPherson, Ruth and Tybjaerg-Hansen, Anne and Abecasis, Goncalo R and Watkins, Hugh and Nickerson, Deborah A and Ardissino, Diego and Sunyaev, Shamil R and O'Donnell, Christopher J and Altshuler, David and Gabriel, Stacey and Kathiresan, Sekar and Gabriel, Stacey B and Altshuler, David M and Abecasis, Gonçalo R and Daly, Mark J and de Bakker, Paul I. W and Fennell, Tim and Garimella, Kiran and ... and NHLBI Exome Sequencing Project
Nature, ISSN 0028-0836, 2015, Volume 518, Issue 7537, pp. 102 - +
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
Renaissance Quarterly, ISSN 0034-4338, 2017, Volume 70, Issue 1, pp. 327 - 328
Journal Article
by Lange, Leslie A and Lange, Ethan M and Lange, Christoph and Hu, Youna and Zhang, Qunyuan and Zhang, Ji and Zhang, He and Xue, Chenyi and Schmidt, Ellen M and Tang, Hua and Tang, Zheng-Zheng and Bizon, Chris and Smith, Nicholas L and Smith, Joshua D and Smith, Albert V and Turner, Emily H and Jun, Goo and Kang, Hyun Min and Peloso, Gina and Auer, Paul L and Auer, Paul and Li, Kuo-ping and Li, Mingyao and Li, Yun and Li, Bingshan and Li, Dalin and Flannick, Jason and Fuchsberger, Christian and Gaulton, Kyle and Lindgren, Cecilia and Locke, Adam and Manning, Alisa and Sim, Xueling and Rivas, Manuel A and Holmen, Oddgeir L and Gottesman, Omri and Lu, Yingchang and Ruderfer, Douglas and Stahl, Eli A and Duan, Qing and Durda, Peter and Durda, J. Peter and Jiao, Shuo and Isaacs, Aaron and Hofman, Albert and Bis, Joshua C and Bis, Joshua and Correa, Adolfo and Griswold, Michael E and Jakobsdottir, Johanna and Schreiner, Pamela and Schreiner, Pamela J and Feitosa, Mary F and Huffman, Jennifer E and Crosby, Jacy and Wassel, Chrstina L and Wassel, Christina L and Do, Ron and Franceschini, Nora and Martin, Lisa and Martin, Lisa W and Martin, Thomas R and Robinson, Jennifer G and Assimes, Themistocles L and Crosslin, David R and Rosenthal, Elisabeth A and Tsai, Michael Y and Tsai, Michael and Rieder, Mark J and Farlow, Deborah N and Folsom, Aaron R and Lumley, Thomas and Fox, Ervin R and Fox, Caroline S and Fox, P. Keolu and Fox, Ervin and Carlson, Christopher S and Peters, Ulrike and Jackson, Rebecca D and Jackson, Rebecca and van Duijn, Cornelia M and Uitterlinden, André G and Levy, Daniel and Rotter, Jerome I and Taylor, Herman A and Taylor, Kira C and Taylor, Kent and Gudnason, Vilmundur and Siscovick, David S and Fornage, Myriam and Borecki, Ingrid B and Hayward, Caroline and Rudan, Igor and Chen, Wei-Min and Chen, Y. Eugene and Chen, Donna T and Chen, Ida Y and Bottinger, Erwin P and Loos, Ruth J.F and Sætrom, Pål and ... and NHLBI Grand Opportunity Exome Sequ and NHLBI Grand Opportunity Exome Sequencing Project and Genomik, diabetes och endokrinologi and Lund University and Genomics, Diabetes and Endocrinology and Lunds universitet and EXODIAB: Excellence in Diabetes Research in Sweden
The American Journal of Human Genetics, ISSN 0002-9297, 02/2014, Volume 94, Issue 2, pp. 233 - 245
Journal Article