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Journal of the American College of Cardiology, ISSN 0735-1097, 2015, Volume 65, Issue 13, pp. 1324 - 1336
Journal Article
by Panagiotakaki, Eleni and De Grandis, Elisa and Stagnaro, Michela and Heinzen, Erin L and Fons, Carmen and Sisodiya, Sanjay and De Vries, Boukje and Goubau, Christophe and Weckhuysen, Sarah and Kemlink, David and Scheffer, Ingrid and Lesca, Gaëtan and Rabilloud, Muriel and Klich, Amna and Ramirez-Camacho, Alia and Ulate-Campos, Adriana and Campistol, Jaume and Giannotta, Melania and Moutard, Marie-Laure and Doummar, Diane and Hubsch-Bonneaud, Cecile and Jaffer, Fatima and Cross, Helen and Gurrieri, Fiorella and Tiziano, Danilo and Nevsimalova, Sona and Nicole, Sophie and Neville, Brian and Van Den Maagdenberg, Arn M. J. M and Mikati, Mohamad and Goldstein, David B and Vavassori, Rosaria and Arzimanoglou, Alexis and Bassi, Maria Teresa and Borgatti, Renato and Cernetti, Roberta and Di Rosa, Gabriella and Franchini, Filippo and Gambardella, Antonio and Giacanelli, Manlio and Gobbi, Giuseppe and Granata, Tiziana and Guerrini, Renzo and Incorpora, Gemma and Nardocci, Nardo and Neri, Giovanni and Ragona, Francesca and Santucci, Margherita and Sartori, Stefano and Veneselli, Edvige and Vigevano, Federico and Zucca, Claudio and Aicardi, J and An, I and Arbues, A.S and Arzimanoglou, A and Bahi-Buisson, N and Barthez, M.-A and Billette de Villemeur, T and Bourgeois, M and Bru, M and Chabrol, B and Chaigne, D and Chaunu, M.P and Chaunu, C and Cournelle, A.M and Davoine, C.-S and De St Martin, A and Deny, B and Desguerres, I and Des Portes, V and Doummar, D and Dulac, O and Dusser, A and Gerard, M and Gitiaux, C and Godet Kiesel, I and Gokben, S and Goutieres, F and Guerrin, M.-H and Heron-Longe, B and Hubsch-Bonneaud, C and Hully, M and Husson, M and Husson, Ch and Kaminska, A and Laroche, C and Lazaro, L and Lepine, A and Magy, L and Marchal, C and Michel, J and Milh, M and Motte, J and Moutard, M.L and Napuri, S and Nassogne, M.C and Neau, J.P and Nicole, S and Panagiotakaki, Eleni and ... and IBAHC Consortium and French AHC Consortium and Int AHC Consortium and International AHC Consortium and Italian IBAHC Consortium and The French AHC Consortium and The Italian IBAHC Consortium and The International AHC Consortium
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 09/2015, Volume 10, Issue 1, pp. 123 - 123
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
Nature, ISSN 0028-0836, 2014, Volume 506, Issue 7487, pp. 185 - 190
Journal Article