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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 | Index Medicus | 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
Lancet, The, ISSN 0140-6736, 2011, Volume 378, Issue 9809, pp. 2081 - 2087
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Lancet Oncology, The, ISSN 1470-2045, 2012, Volume 13, Issue 12, pp. 1242 - 1249
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by Rainger, Joe and Rainger, Jacqueline K and Pehlivan, Davut and Johansson, Stefan and Bengani, Hemant and Sanchez-Pulido, Luis and Williamson, Kathleen A and Ture, Mehmet and Barker, Heather and Rosendahl, Karen and Spranger, Jürgen and Horn, Denise and Meynert, Alison and Floyd, Jamie and Floyd, James A.B and Prescott, Trine and Anderson, Carl and Anderson, Carl A and Karaca, Ender and Gonzaga-Jauregui, Claudia and Jhangiani, Shalini and Muzny, Donna M and Seawright, Anne and Soares, Dinesh C and Kharbanda, Mira and Murday, Victoria and Finch, Andrew and Hurles, Matthew E and Hurles, Matthew and FitzPatrick, David R and FitzPatrick, David R and Al-Turki, Saeed and Barroso, Inês and Beales, Philip and Bentham, Jamie and Bhattacharya, Shoumo and Carss, Keren and Chatterjee, Krishna and Cirak, Sebhattin and Cosgrove, Catherine and Daly, Allan and Franklin, Chris and Futema, Marta and Humphries, Steve and McCarthy, Shane and Mitchison, Hannah and Muntoni, Francesco and Onoufriadis, Alexandros and Parker, Victoria and Payne, Felicity and Plagnol, Vincent and Raymond, Lucy and Savage, David and Scambler, Peter and Schmidts, Miriam and Semple, Robert and Serra, Eva and Stalker, Jim and van Kogelenberg, Margriet and Vijayarangakannan, Parthiban and Walter, Klaudia and Wood, Gretta and Gibbs, Richard A and van Heyningen, Veronica and Taylor, Martin S and Yakut, Tahsin and Knappskog, Per M and Ponting, Chris P and Lupski, James R and Houge, Gunnar and UK10K and Baylor-Hopkins Ctr Mendelian Genom and Baylor-Hopkins Center for Mendelian Genomics
The American Journal of Human Genetics, ISSN 0002-9297, 06/2014, Volume 94, Issue 6, pp. 915 - 923
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Heart, ISSN 1355-6037, 06/2016, Volume 102, Issue Suppl 6, pp. A106 - A106
The European Society of Cardiology recently recommended a new tool1 to estimate 5 year risk of sudden cardiac death (SCD) in patients with hypertrophic... 
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Nature Genetics, ISSN 1061-4036, 03/2008, Volume 40, Issue 3, pp. 322 - 328
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Journal of Medical Genetics, ISSN 0022-2593, 06/2018, Volume 55, Issue 6, pp. 384 - 394
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by Dunlop, Malcolm G and Dobbins, Sara E and Farrington, Susan Mary and Jones, Angela M and Palles, Claire and Whiffin, Nicola and Tenesa, Albert and Spain, Sarah and Broderick, Peter and Ooi, Li-Yin and Domingo, Enric and Smillie, Claire and Henrion, Marc and Frampton, Matthew and Martin, Lynn and Grimes, Graeme and Gorman, Maggie and Semple, Colin and Ma, Yusanne P and Barclay, Ella and Prendergast, James and Cazier, Jean-Baptiste and Olver, Bianca and Penegar, Steven and Lubbe, Steven and Chander, Ian and Carvajal-Carmona, Luis G and Ballereau, Stephane and Lloyd, Amy and Vijayakrishnan, Jayaram and Zgaga, Lina and Rudan, Igor and Theodoratou, Evropi and Thomas, Huw and Maher, Eamonn and Evans, Gareth and Walker, Lisa and Halliday, Dorothy and Lucassen, Anneke and Paterson, Joan and Hodgson, Shirley and Homfray, Tessa and Side, Lucy and Izatt, Louise and Donaldson, Alan and Tomkins, Susan and Morrison, Patrick and Brewer, Carole and Henderson, Alex and Davidson, Rosemarie and Murday, Victoria and Cook, Jaqueline and Haites, Neva and Bishop, Timothy and Sheridan, Eamonn and Green, Andrew and Marks, Christopher and Carpenter, Sue and Broughton, Mary and Greenhalge, Lynn and Suri, Mohnish and Starr, John M and Deary, Ian and Kirac, Iva and Kovacevia, Dujo and Aaltonen, Lauri A and Renkonen-Sinisalo, Laura and Mecklin, Jukka-Pekka and Matsuda, Koichi and Nakamura, Yusuke and Okada, Yukinori and Gallinger, Steven and Duggan, David J and Conti, David and Newcomb, Polly and Hopper, John and Jenkins, Mark A and Schumacher, Fredrick and Casey, Graham and Easton, Douglas and Shah, Mitul and Pharoah, Paul and Lindblom, Annika and Liu, Tao and Edler, David and Lenander, Claes and Dalén, Johan and Hjern, Fredrik and Lundqvist, Nils and Lindforss, Ulrik and Påhlman, Lars and Smedh, Kennet and Törnqvist, Anders and Holm, Jörn and Janson, Martin and Andersson, Magnus and Ekelund, Susanne and Olsson, Louise and Smith, Christopher G and West, Hannah and ... and Colorectal Tumour Gene Identificat and Coin Collaborative Grp and Swedish Low-Risk Colorectal Canc and COIN Collaborative Group and Swedish Low-Risk Colorectal Cancer Study Group and Colorectal Tumour Gene Identification (CORGI) Consortium and The Swedish Low-Risk Colorectal Cancer Study Group and The COIN Collaborative Group and The Colorectal Tumour Gene Identification (CORGI) Consortium and Inst för molekylär medicin och kirurgi and Karolinska Institutet and Dept of Molecular Medicine and Surgery
Nature Genetics, ISSN 1061-4036, 07/2012, Volume 44, Issue 7, pp. 770 - 776
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