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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
Nature genetics, ISSN 1061-4036, 01/2019, Volume 51, Issue 1, pp. 106 - 116
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autistic Disorder - genetics | Humans | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | DNA Copy Number Variations - genetics | Developmental Disabilities - genetics | Neurodevelopmental Disorders - genetics | Mutation - genetics | Intellectual Disability - genetics | Exome - genetics | Phenotype | Animals | Chromosome Aberrations | Polymorphism, Single Nucleotide - genetics | Mice | Intracellular Signaling Peptides and Proteins - genetics | Gene mutations | Copy number variations | Analysis | Nervous system | Degeneration | Genetic aspects | Research | Morbidity | Neurosciences | Intellectual disabilities | Copy number | Genes | Disorders | Likelihood ratio | Genomes | Gene deletion | Neurodevelopmental disorders | Spiny neurons | Autism | Missense mutation | Clonal deletion | Reproduction (copying) | Neostriatum | Gene duplication | Mutation | Chromosome 16 | Index Medicus | TRIO | MYT1L | HNRNPU | EHMT1 | ENO3 | CAPN15 | SUV420H1 | PPP1CB | EFTUD2 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SOX5 | MAP2K1 | MEF2C | CSNK2A1 | TMEM178A | DYRK1A | CASK | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | HECW2 | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | Genetics of Developmental Delay | DLX3 | SET | KMT2A | SRCAP | ANP32A | STXBP1 | CUL3 | FOXG1 | ANKRD11 | ITPR1 | de novo Mutation | HIVEP3 | SNX5 | ZBTB18 | CREBBP | IQSEC2 | BCL11A | NONO | UPF3B | BRAF | ADAP1 | GRIN2B | SMARCA2 | SMARCA4 | MED13L | GNAO1 | AGO4 | DLG4 | CAPRIN1 | Neurodevelopmental Disorders | TCF4 | CDK13 | SCN2A | GABRB2 | KDM5B | SETD5 | DDX3X | CHD8 | PTEN | TCF20 | CTCF | CHD3 | CHD2 | WDR45 | SLC6A1 | MECP2 | SNAPC5 | SYNCRIP | TLK2 | CHAMP1 | KIF1A | RAC1 | TNPO2 | DNMT3A | MSL3 | PPP2R5D | ASH1L | SMC1A | ARID1B | CNKSR2 | PACS2 | SETBP1 | PIK3CA | PACS1 | WAC | ZMYND11 | SHANK3 | AHDC1 | SMARCD1 | WDR26 | NFIX | SATB2 | KIAA2022 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | LEO1 | DYNC1H1 | MBD5 | NAA10 | USP9X | PTPN11 | MEIS2 | GATAD2B | KANSL1 | ASXL3 | CTNNB1 | TRIP12 | QRICH1 | NAA15 | TAF1
Journal Article