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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 | 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
Nature Genetics, ISSN 1061-4036, 12/2015, Volume 48, Issue 1, pp. 36 - 43
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Nature Genetics, ISSN 1061-4036, 09/2011, Volume 43, Issue 9, pp. 879 - 882
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Journal of Property Investment and Finance, ISSN 1463-578X, 04/2019, Volume 37, Issue 3, pp. 241 - 254
Journal Article
Nature, ISSN 0028-0836, 01/2013, Volume 493, Issue 7432, pp. 406 - 410
Journal Article
by Dennis, Martin and Mead, Gillian and Mead, Denise and Forbes, John and Graham, Julie and Graham, Susan and Graham, Libby and Graham, Catriona and Hackett, Maree and Hankey, Graeme J and House, Allan and Lewis, Stephanie and Lundström, Erik and Sandercock, Peter and Innes, Karen and Williams, Carol and Williams, Sandra and Williams, Rhys and Williams, Richard and Williams, Rebecca and Williams, Max and Williams, Sarah and Drever, Jonathan and Mcgrath, Aileen and Deary, Ann and Fraser, Greig and Fraser, Ruth and Anderson, Rosemary and Walker, Rachel and Walker, Elaine and Walker, Pauli and Walker, Susannah and Perry, David and Perry, Jack and Mcgill, Connor and Buchanan, David and Chun, Yvonne and Dinsmore, Lynn and Maschauer, Emma and Barugh, Amanda and Mikhail, Shadia and Blair, Gordon and Hoeritzauer, Ingrid and Scott, Jon and Scott, Rhona and Scott, Maggie and Lawrence, Tara and Lawrence, Katherine and Shaw, Alison and Williamson, Sue and Williamson, Judith and Burgess, David and Burgess, Seona and Burgess, Laura and Macleod, Fiona and Macleod, Malcolm and Macleod, Mary Joan and Morales, Dan and Sullivan, Frank and Brady, Marian and French, Ray and Van Wijck, Frederike and Watkins, Caroline and Proudfoot, Fiona and Skwarski, Joanna and Mcgowan, Diane and Murphy, Peter and Murphy, Rachael and Rutherford, William and Mccormick, Katrina and Buchan, Ruaridh and Macraild, Allan and Paulton, Ruth and Fazal, Adnan and Taylor, Vicky and Taylor, Caroline and Taylor, Pat and Parakramawansha, Ruwan and Hunter, Neil and Hunter, Nadia and Bamford, Elizabeth and Bamford, John and Waugh, Darren and Waugh, Dean and Veraque, Emelda and Bedford, Caroline and Bedford, Elizabeth and Kambafwile, Mary and Idrovo, Luis and Makawa, Linetty and Smalley, Paula and Randall, Marc and Thirugnana-Chandran, Tharani and Hassan, Hanna and Hassan, Muhammad and Hassan, Ahamad and Vowden, Richard and Jackson, Samantha and Jackson, Tracy and Jackson, Linda and ... and FOCUS Trial Collaboration and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Neurologi and Uppsala universitet and Institutionen för neurovetenskap
The Lancet, ISSN 0140-6736, 01/2019, Volume 393, Issue 10168, pp. 265 - 274
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