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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
by Faundes, Víctor and Davies, Sally J and Goldman, Amy and Lehman, Anna and McKee, Shane and Morton, Jenny and Rankin, Julia and Temple, I. Karen and Adam, Shelin and Elliott, Alison M and van Karnebeek, Clara and McRae, Jeremy F and Fitzgerald, Tomas W and Aitken, Stuart and Alvi, Mohsan and Ambridge, Kirsty and Jones, Philip and Ahmed, Munaza and Balasubramanian, Meena and Barnicoat, Angela and Bitner-Glindzicz, Maria and Bourdon, Louise and Bradley, Lisa and Burn, John and Clasper, Susan and Colgiu, Irina and Collins, Amanda and Connell, Fiona and Crow, Yanick and Dabir, Tabib and Davidson, Rosemarie and de Vries, Dylan and Deshpande, Charu and Dixit, Abhijit and Dobbie, Angus and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Flinter, Frances and Foulds, Nicola and Gardiner, Carol and Ghali, Neeti and Gibbons, Richard and Gill, Harinder and Greene, Philip and Gribble, Susan and Holder, Muriel and Hollingsworth, Georgina and Ingram, Stuart and Jenkins, Lucy and Joss, Shelagh and Kerr, Bronwyn and Kini, Usha and Kraus, Alison and Lachlan, Katherine and Lynch, Sally A and Marks, Karen and McConnell, Vivienne and McEntagart, Meriel and McGowan, Ruth and McKay, Kirsten and Middleton, Anna and Mohammed, Shehla and O’Shea, Rosie and Ogilvie, Caroline and Ong, Kai-Ren and Patel, Chirag and Paterson, Joan and Payne, Stewart and Prescott, Katrina and Procter, Annie and Purnell, Hellen and Randall, Josh and Rankin, Julia and Raymond, Lucy and Rice, Debbie and Robert, Leema and Samant, Shalaka and Selby, Ann and Sequeira, Cheryl and Shears, Debbie and Smith, Audrey and Smith, Kath and Splitt, Miranda and Squires, Miranda and Tomkins, Susan and Treacy, Becky and Tysoe, Carolyn and Vasudevan, Pradeep and Vijayarangakannan, Parthiban and Vogt, Julie and Wakeling, Emma and Whiteford, Margo and Wilcox, Sarah and Wilkinson, Emily and Williams, Denise and Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study and The Deciphering Developmental Disorders (DDD) Study and Clin Assessment Utility Sequencin and Deciphering Dev Disorders DD and Deciphering Developmental Disorders (DDD) Study
American journal of human genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 175 - 187
Journal Article
by Blok, Lot Snijders and Venselaar, Hanka and Swoboda, Kathryn J and Stumpel, Connie T. R. M and Au, P. Y. Billie and Rodriguez, Diana and van Gassen, Koen L. I and Newbury-Ecob, Ruth and Bierhals, Tatjana and Machida, Shinichi and Kurumizaka, Hitoshi and Lelieveld, Stefan and Thevenon, Julien and Kleefstra, Tjitske and Fisher, Simon E and Campeau, Philippe M and McRae, Jeremy F and Kaplanis, Joanna and Prigmore, Elena and Sifrim, Alejandro and Alvi, Mohsan and Barrett, Daniel M and Jones, Philip and Singh, Tarjinder and Ahmed, Munaza and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Bourdon, Louise and Burn, John and Cilliers, Deirdre and Clowes, Virginia and Cooper, Nicola and Cross, Gareth and Crow, Yanick and Dabir, Tabib and Davidson, Rosemarie and Dean, John and Donnai, Dian and Donnelly, Carina and Douglas, Angela and Everest, Sarah and Fendick, Tina and Fisher, Richard and Gardiner, Carol and Gill, Harinder and Harrison, Rachel and Harrison, Victoria and Hellens, Stephen and Holden, Simon and Holder, Muriel and Ingram, Stuart and Jarvis, Joanna and Johnson, Diana and Jones, Elizabeth and Kerr, Bronwyn and Kini, Usha and Lachlan, Katherine and Lowther, Gordon and Magee, Alex and Maher, Eddy and McConnell, Vivienne and McEntagart, Meriel and McNerlan, Susan and McWilliam, Catherine and Miedzybrodzka, Zosia and Moore, David and Murday, Victoria and Nemeth, Andrea and Norman, Andrew and Ogilvie, Caroline and Ong, Kai-Ren and Parker, Michael J and Patel, Chirag and Payne, Stewart and Pollard, Martin and Prescott, Katrina and Randall, Josh and Rosser, Elisabeth and Samant, Shalaka and Schweiger, Susann and Scurr, Ingrid and Sequeira, Cheryl and Shears, Debbie and Simonic, Ingrid and Squires, Miranda and Stewart, Fiona and Stewart, Helen and Swaminathan, Ganesh Jawahar and Temple, I. Karen and Varghese, Vinod and Vijayarangakannan, Parthiban and Wallwark, Sarah and Weber, Astrid and Wellesley, Diana and Whiteford, Margo and Widaa, Sara and Nellaker, Chris and Wright, Caroline F and FitzPatrick, David R and DDD Study
Nature communications, ISSN 2041-1723, 05/2019, Volume 10
Journal Article
by Ho, Aileen K and Landwehrmeyer, G. Bernhard and Rae, Daniela and de Souza (Keylock), Jenny and Coulthard, Elizabeth and Gethin, Louise and Barker, Roger A and Fisher, Kate and Goodman, Anna and Hill, Susan and Swain, Rachel and Guzman, Natalie Valle and Callaghan, Jenny and Fullam, Ruth and Rosser, Anne and Tonner, Alison and Edwards, Maureen and Ho, Carrie and Pearson, Pauline and Foster, Jillian and McKenzie, Sue and Rothery, Jean and Deith, Catherine and Ireland, Jane and Harding, Alison and Laver, Fiona and Silva, Mark and Rowett, Liz and Musgrave, Hannah and Toscano, Jean and Middleton, Julia and Gerrans, Emily and Anjum, Uruj and Coebergh, Jan and Eddy, Charlotte and Rose, Sarah and Andrews, Thomasin and Dougherty, Andrew and Golding, Charlotte and Lashwood, Alison and Ruddy, Deborah and Santhouse, Alastair and Whaite, Anna and Doherty, Karen and Haider, Salman and Robertson, Nicola and Tabrizi, Sarah and Taylor, Rachel and Bek, Judith and Craufurd, David and Johnson, Liz and Jones, Mary and Krishnamoorthy, Ashok and Oughton, Emma and Partington-Jones, Lucy and Westmoreland, Leann and Davidson, Lynn and Davison, Jill and Morgan, Karen and Savage, Lois and Wood, Josh and Siuda, Gill and Dixon, Kathryn and Armstrong, Richard and Burn, John and Weekes, Rebecca and Craven, Janet and Verstraelen (Ritchie), Nicola and Barrett, Wendy and Bandmann, Oliver and Fairtlough, Helen and Fillingham, Kay and Foustanos, Isabella and Gill, Paul and Kazoka, Mbombe and Peppa, Nadia and Quarrell, Oliver and Tidswell, Katherine and Gunner, Kerry and Harris, Kayla and Anderson, Mary and Keys, Liane and Smalley, Sarah and El-Nimr, George and Duffell, Allison and Kennedy (nee Smith), Karen and Bucher, Walter and de Schepper, Beatrice and Eden, John and Hendrikx, Victor and King, Diana and Lenon-Bird, Anne and Rapaille, Lilliane and Santini, Helen and Sasinkova, Pavla and Soltysiak, Beverley and Smith, Steve and van der Leer, Hans and van der Meer, Lucienne and Wooldridge, Michael and European Huntington’s Disease Network and Catherine Paradise and team and Sue Beevers and team and European Huntington's Dis Network
Value in health, ISSN 1098-3015, 06/2019, Volume 22, Issue 6, pp. 712 - 720
Journal Article
by Blok, Lot Snijders and Venselaar, Hanka and Swoboda, Kathryn J and Stumpel, Connie T. R. M and Au, P. Y. Billie and Nava, Caroline and Rodriguez, Diana and Moore, Christine and van Gassen, Koen L. I and Van Binsbergen, Ellen and Newbury-Ecob, Ruth and Bader, Ingrid and Bierhals, Tatjana and Machida, Shinichi and Kurumizaka, Hitoshi and Lelieveld, Stefan and Thevenon, Julien and Kleefstra, Tjitske and Fisher, Simon E and Campeau, Philippe M and Kaplanis, Joanna and Prigmore, Elena and Sifrim, Alejandro and Aitken, Stuart and Alvi, Mohsan and Barrett, Daniel M and Jones, Philip and Singh, Tarjinder and Awada, Jana and Balasubramanian, Meena and Baralle, Diana and Barnicoat, Angela and Blyth, Moira and Bourdon, Louise and Bradley, Lisa and Brunstrom, Kate and Bunyan, David J and Canham, Natalie and Cilliers, Deirdre and Cooper, Nicola and Cox, Helen and Cross, Gareth and Dean, John and Douglas, Angela and Duncan, Alexis and Fendick, Tina and Foulds, Nicola and Gaunt, Lorraine and Ghali, Neeti and Gill, Harinder and Harrison, Rachel and Holden, Simon and Ingram, Stuart and Jarvis, Joanna and Johnson, Diana and Josifova, Dragana and Joss, Shelagh and Kazembe, Sandra and Kingston, Helen and Kini, Usha and Kirk, Claire and Kraus, Alison and Kumar, V. K. Ajith and Marks, Karen and Martin, Katherine and McConnell, Vivienne and Mckay, Kirsten and McWilliam, Catherine and Miles, Emma and Nemeth, Andrea and Ogilvie, Caroline and Ong, Kai-Ren and Parker, Michael J and Patel, Chirag and Pollard, Martin and Ragge, Nicola and Randall, Josh and Rice, Debbie and Roberts, Eileen and Saggar, Anand and Scurr, Ingrid and Shears, Debbie and Simonic, Ingrid and Sneddon, Linda and Stewart, Helen and Swaminathan, Ganesh Jawahar and Thomson, Jenny and Turnpenny, Peter and Varghese, Vinod and Vijayarangakannan, Parthiban and Vogt, Julie and Wallwark, Sarah and Waters, Jonathon and Weber, Astrid and Widaa, Sara and Wilson, Louise and Wragg, Christopher and Nellaker, Chris and Wright, Caroline F and FitzPatrick, David R and DDD Study
Nature communications, ISSN 2041-1723, 05/2019, Volume 10
Journal Article
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