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Journal Article
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2018, Volume 55, Issue 10, pp. 641 - 654
Journal Article
Nature Genetics, ISSN 1061-4036, 01/2014, Volume 46, Issue 5, pp. 510 - 515
Journal Article
by Palles, Claire and Cazier, Jean-Baptiste and Howarth, Kimberley M and Domingo, Enric and Jones, Angela M and Broderick, Peter and Kemp, Zoe and Spain, Sarah L and Almeida, Estrella Guarino and Salguero, Israel and Sherborne, Amy and Chubb, Daniel and Carvajal-Carmona, Luis G and Ma, Yusanne and Kaur, Kulvinder and Dobbins, Sara and Barclay, Ella and Gorman, Maggie and Martin, Lynn and Kovac, Michal B and Humphray, Sean and Lucassen, Anneke and Holmes, Christopher H and Bentley, David and Donnelly, Peter and Taylor, Jenny and Petridis, Christos and Roylance, Rebecca and Sawyer, Elinor J and Kerr, David J and Clark, Susan and Grimes, Jonathan and Kearsey, Stephen E and Thomas, Huw J.W and McVean, Gilean and Houlston, Richard S and Tomlinson, Ian and Thomas, Huw J.W and Maher, Eamonn and Evans, Gareth and Cummings, Carole and Stevens, Margaret and Walker, Lisa and Halliday, Dorothy and Armstrong, Ruth 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 Goodman, Selina and Brewer, Carole and Henderson, Alex and Davidson, Rosemarie and Murday, Victoria and Cook, Jaqueline and Haites, Nneva 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 Bell, John and Ratcliffe, Peter and Wilkie, Andrew and Broxholme, John and Buck, David and Cornall, Richard and Gregory, Lorna and Knight, Julian and Lunter, Gerton and Kingsbury, Zoya and Grocock, Russell and Hatton, Edouard and Holmes, Christopher C and Hughes, Linda and Humburg, Peter and Kanapin, Alexander and Murray, Lisa and Rimmer, Andy and WGS500 Consortium and CORGI Consortium and The WGS500 Consortium and The CORGI Consortium
Nature Genetics, ISSN 1061-4036, 02/2013, Volume 45, Issue 2, pp. 136 - 143
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 | 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