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Lancet, The, ISSN 0140-6736, 2016, Volume 388, Issue 10061, pp. 2743 - 2752
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
Biology of Reproduction, ISSN 0006-3363, 09/2007, Volume 77, Issue 3, pp. 384 - 394
Journal Article
by Nauth, Aaron and Creek, Aaron T and Zellar, Abby and Lawendy, Abdel-Rahman and Dowrick, Adam and Gupta, Ajay and Dadi, Akhil and van Kampen, Albert and Yee, Albert and de Vries, Mark R and de Vries, Jean Paul P.M and de Vries, Alexander C and de Mol van Otterloo, Alexander and Garibaldi, Alisha and Liew, Susan and Liew, Allen and McIntyre, Allison W and Prasad, Amal Shankar and Romero, Amanda W and Rangan, Amar and Oatt, Amber and Sanghavi, Amir and Foley, Amy L and Karlsten, Anders and Dolenc, Andrea and Bucknill, Andrew and Chia, Andrew and Evans, Andrew and Evans, Simone and Gong, Andrew and Schmidt, G. Ben and Schmidt, Andrew H and Marcantonio, Andrew J and Jennings, Andrew and Ward, Angela and Khanna, Angshuman and Rai, Anil and Rai, B. Sachidananda and Rai, Kamal and Smits, Anke B and Horan, Annamarie D and Brekke, Anne Christine and Flynn, Annette and Duraikannan, Aravin and Stødle, Are and van Vugt, Arie B and Luther, Arlene and Zurcher, Arthur W and Jain, Arvind and Jain, Neeraj and Amundsen, Asgeir and Moaveni, Ash and Carr, Ashley and Sharma, Gaurav and Sharma, Ateet and Hill, Austin D and Trommer, Axel and Hileman, Barbara and Schreurs, Bart and Verhoeven, Bart and Barden, Benjamin B and Flatøy, Bernhard and Cleffken, Berry I and Bøe, Berthe and Perey, Bertrand and Hanusch, Birgit C and Weening, Brad and Fioole, Bram and Rijbroek, Bram and Crist, Brett D and Halliday, Brett and Peterson, Brett and Mullis, Brian and Richardson, C. Glen and Richardson, Martin and Clark, Callum and Sagebien, Carlos A and van der Pol, Carmen C and Bowler, Carol and Humphrey, Catherine A and Coady, Catherine and Koppert, Cees L and Coles, Chad and Tannoury, Chadi and DePaolo, Charles J and Gayton, Chris and Herriott, Chris and Reeves, Christina and Tieszer, Christina and Dobb, Christine and Anderson, Linda K and Anderson, Christopher G and Anderson, Sarah A and Sage, Claire and Cuento, Claudine and Jones, Vicki and Jones, Clifford B and Bosman, Coks H.R and Linehan, Colleen and van der Hart, Cor P and ... and Fixation using Alternative Implants for the Treatment of Hip fractures (FAITH) Investigators
The Lancet, ISSN 0140-6736, 04/2017, Volume 389, Issue 10078, pp. 1519 - 1527
Journal Article
by Thuijs, Daniel J F M and Kappetein, A Pieter and Serruys, Patrick W and Mohr, Friedrich-Wilhelm and Morice, Marie-Claude and Mack, Michael J and Holmes, David R and Curzen, Nick and Davierwala, Piroze and Noack, Thilo and Milojevic, Milan and Dawkins, Keith D and da Costa, Bruno R and Jüni, Peter and Head, Stuart J and Casselman, Filip and de Bruyne, Bernard and Høj Christiansen, Evald and Ruiz-Nodar, Juan M and Vermeersch, Paul and Schultz, Werner and Sabaté, Manel and Guagliumi, Giulio and Grubitzsch, Herko and Stangl, Karl and Darremont, Olivier and Bentala, M and den Heijer, Peter and Preda, Istvan and Stoler, Robert and Szerafin, Tamás and Buckner, John K and Guber, Myles S and Verberkmoes, Niels and Akca, Ferdi and Feldman, Ted and Beyersdorf, Friedhelm and Drieghe, Benny and Oldroyd, Keith and Berg, Geoff and Jeppsson, Anders and Barber, Kimberly and Wolschleger, Kevin and Heiser, John and van der Harst, Pim and Mariani, Massimo A and Reichenspurner, Hermann and Stark, Christoffer and Laine, Mika and Ho, Paul C and Chen, John C and Zelman, Richard and Horwitz, Phillip A and Bochenek, Andrzej and Krauze, Agata and Grothusen, Christina and Dudek, Dariusz and Heyrich, George and Kolh, Philippe and LeGrand, Victor and Coelho, Pedro and Ensminger, Stephan and Nasseri, Boris and Ingemansson, Richard and Olivecrona, Goran and Escaned, Javier and Guera, Reddy and Berti, Sergio and Chieffo, Alaide and Burke, Nicholas and Mooney, Michael and Spolaor, Alvise and Hagl, Christian and Näbauer, Michael and Suttorp, Maarten Jan and Stine, Ronald A and McGarry, Thomas and Lucas, Scott and Endresen, Knut and Taussig, Andrew and Accola, Kevin and Canosi, Umberto and Horvath, Ivan and Cannon, Louis and Talbott, John D and Akins, Chris W and Kramer, Robert and Aschermann, Michael and Killinger, William and Narbute, Inga and Burzotta, Francesco and Bogers, Ad and Zijlstra, Felix and Eltchaninoff, Helene and Berland, Jacques and Stefanini, Giulio and Cruz Gonzalez, Ignacio and Hoppe, Uta and Kiesz, Stefan and Gora, Bartlomiej and ... and SYNTAX Extended Survival and SYNTAX Extended Survival Investigators and Sahlgrenska akademin and Institute of Medicine, Department of Molecular and Clinical Medicine and Institutionen för medicin, avdelningen för molekylär och klinisk medicin and Göteborgs universitet and Gothenburg University and Sahlgrenska Academy
The Lancet, ISSN 0140-6736, 10/2019, Volume 394, Issue 10206, pp. 1325 - 1334
Journal Article