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by Reich, Adi and Simpson, Michael A and King, Mary D and Cross, J. Helen and Mefford, Heather C and Scheffer, Ingrid E and Haack, Tobias B and Barrett, Daniel M and Krishnappa, Netravathi and Awada, Jana and Baralle, Diana and Bunyan, David J and Clasper, Susan and Clayton-Smith, Jill and Cresswell, Lara and Donaldson, Alan and Ellis, Ian and Gaunt, Lorraine and He, Liu and Hewitt, Sarah and Hurst, Jane and Kirk, Claire and Kivuva, Emma and Kumar, Dhavendra and Mansour, Sahar and McCann, Emma and McKee, Shane and Mugalaasi, Hood and Murphy, Helen and Newbury-Ecob, Ruth and Parker, Michael J and Pollard, Martin and Pridham, Abigail and Saggar, Anand and Scott, Richard and Shearing, Emma and Smithson, Sarah and Sneddon, Linda and Tatton-Brown, Kate and Thomson, Jenny and Torokwa, Audrey and Varghese, Vinod and Yau, Michael and Artigas, Maria Soler and Boustred, Chris and Evans, David and Flicek, Paul and Hart, Deborah and Langford, Cordelia and Lawson, Daniel and Li, Rui and O'Donnovan, Michael and Parker, Victoria and Paunio, Tiina and Rehnström, Karola and Sun, Jianping and Suvisaari, Jaana and Tachmazidou, Ionna and Tobin, Martin D and Wain, Louise V and Walters, James T.R and Wong, Kim and Alachkar, Hana and Ambegaonkar, Gautum and Attwood, Antony and Austin, Steve and Bennett, David and Bibi, Shahnaz and Bleda, Marta and Browning, Michael and Clement, Emma and Doffinger, Rainer and Drewe, Elizabeth and Frary, Amy and Hackett, Scott and Hadinnapola, Charaka and Humbert, Marc and James, Roger and Krishnakumar, Deepa and Laffan, Michael A and Lawrie, Allan and Lentaigne, Claire and Maimaris, Jesmeen and Maw, Anna and Megy, Karyn and Moledina, Shahin and Morrell, Nicholas and Nejentsev, Sergey and Polwarth, Gary and Quinti, Isabella and Raymond, F. Lucy and Samarghitean, Crina and Sanchis-Juan, Alba and Southgate, Laura and Stauss, Hans and Thrasher, Adrian and Trembath, Richard and Williamson, Catherine and Yeatman, Nigel and Maher, Eamonn R and Deciphering Developmental Disorders Study and NIHR BioResource and UK10K Consortium and Deciphering Dev Disorders Study
American journal of human genetics, ISSN 0002-9297, 05/2019, Volume 104, Issue 5, pp. 948 - 956
Journal Article
The lancet oncology, ISSN 1470-2045, 2011, Volume 12, Issue 1, pp. 49 - 55
Journal Article
American journal of human genetics, ISSN 0002-9297, 2008, Volume 82, Issue 2, pp. 304 - 319
Journal Article
by McRae, Jeremy F and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Barrett, Daniel M and Jones, Wendy D and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Ahmed, Munaza and Anjum, Uruj and Barnicoat, Angela and Batstone, Paul and Bevan, A. Paul and Blyth, Moira and Canham, Natalie and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Coates, Andrea and Collinson, Morag N and Cooper, Nicola and Cox, Helen and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and De Vries, Dylan and Deshpande, Charu and Devlin, Gemma and Dobbie, Angus and Donnai, Dian and Ellard, Sian and Elmslie, Frances and Fry, Andrew and Gaunt, Lorraine and Gray, Emma and Harrison, Rachel and Harrison, Victoria and Henderson, Alex and Hewitt, Sarah and Holden, Simon and Holder, Susan and Hollingsworth, Georgina and Homfray, Tessa and Hurst, Jane and Jarvis, Joanna and Kaemba, Beckie and Kazembe, Sandra and Kelsell, Rosemary and Kerr, Bronwyn and Kinning, Esther and Kivuva, Emma and Kumar, Dhavendra and Ajith Kumar, V.K and Lam, Wayne and Langman, Caroline and Marks, Karen and McConnell, Vivienne and McKee, Shane and McMullan, Dominic J and Mehta, Sarju and Middleton, Anna and Montgomery, Tara and Naik, Swati and Nevitt, Louise and Newbury-Ecob, Ruth and Norman, Andrew and O'Shea, Rosie and Park, Soo-Mi and Patel, Chirag and Payne, Stewart and Phipps, Julie and Pilz, Daniela T and Pottinger, Caroline and Pratt, Norman and Prescott, Katrina and Price, Sue and Rahbari, Raheleh and Raymond, Lucy and Roberts, Jonathan and Roberts, Paul and Selby, Ann and Seller, Anneke and Sheridan, Eamonn and Smith, Kath and Smithson, Sarah and Splitt, Miranda and Squires, Miranda and Stewart, Fiona and Suri, Mohnish and Sutton, Vivienne and Swaminathan, Ganesh Jawahar and Turnpenny, Peter and Tysoe, Carolyn and Vogt, Julie and Wellesley, Diana and Wright, Michael and Nellåker, Chris and FitzPatrick, David R and Barrett, Jeffrey C and Deciphering Developmental Disorders Study
Nature (London), ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | 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