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Lancet, The, ISSN 0140-6736, 2015, Volume 385, Issue 9975, pp. 1305 - 1314
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
by Young, Alexandra L and Marinescu, Razvan V and Oxtoby, Neil P and Bocchetta, Martina and Yong, Keir and Firth, Nicholas C and Cash, David M and Thomas, David L and Dick, Katrina M and Cardoso, Jorge and van Swieten, John and Borroni, Barbara and Galimberti, Daniela and Masellis, Mario and Tartaglia, Maria Carmela and Rowe, James B and Graff, Caroline and Tagliavini, Fabrizio and Frisoni, Giovanni B and Laforce, Robert and Finger, Elizabeth and de Mendonça, Alexandre and Sorbi, Sandro and Warren, Jason D and Crutch, Sebastian and Fox, Nick C and Ourselin, Sebastien and Schott, Jonathan M and Rohrer, Jonathan D and Alexander, Daniel C and Andersson, Christin and Archetti, Silvana and Arighi, Andrea and Benussi, Luisa and Binetti, Giuliano and Black, Sandra and Cosseddu, Maura and Fallström, Marie and Ferreira, Carlos and Fenoglio, Chiara and Freedman, Morris and Fumagalli, Giorgio G and Gazzina, Stefano and Ghidoni, Roberta and Grisoli, Marina and Jelic, Vesna and Jiskoot, Lize and Keren, Ron and Lombardi, Gemma and Maruta, Carolina and Meeter, Lieke and Mead, Simon and van Minkelen, Rick and Nacmias, Benedetta and Öijerstedt, Linn and Padovani, Alessandro and Panman, Jessica and Pievani, Michela and Polito, Cristina and Premi, Enrico and Prioni, Sara and Rademakers, Rosa and Redaelli, Veronica and Rogaeva, Ekaterina and Rossi, Giacomina and Rossor, Martin and Scarpini, Elio and Tang-Wai, David and Thonberg, Hakan and Tiraboschi, Pietro and Verdelho, Ana and Weiner, Michael W and Aisen, Paul and Petersen, Ronald and Jack, Clifford R and Jagust, William and Trojanowki, John Q and Toga, Arthur W and Beckett, Laurel and Green, Robert C and Saykin, Andrew J and Morris, John and Shaw, Leslie M and Khachaturian, Zaven and Sorensen, Greg and Kuller, Lew and Raichle, Marc and Paul, Steven and Davies, Peter and Fillit, Howard and Hefti, Franz and Holtzman, Davie and Mesulam, M Marcel and Potter, William and Snyder, Peter and Schwartz, Adam and Montine, Tom and Thomas, Ronald G and Donohue, Michael and Walter, Sarah and ... and Genetic FTD Initiative GENFI and Alzheimer's Dis Neuroimaging Initi and Alzheimer’s Disease Neuroimaging Initiative (ADNI) and Genetic FTD Initiative (GENFI) and The Genetic FTD Initiative (GENFI) and The Alzheimer’s Disease Neuroimaging Initiative (ADNI)
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 4273 - 16
Journal Article
JOURNAL OF MEDICAL GENETICS, ISSN 0022-2593, 06/2019, Volume 56, Issue 6, pp. 347 - 357
The vocabulary currently used to describe genetic variants and their consequences reflects many years of studying and discovering monogenic disease with high... 
PATHOGENICITY | MISSENSE SUBSTITUTIONS | RECOMMENDATIONS | GUIDELINES | GENETICS & HEREDITY | FRAMEWORK | SEQUENCE VARIANTS | CLASSIFICATION | BRCA1 | CODON BIAS | BREAST
Journal Article
by Hadinnapola, Charaka and Hadinnapola, Charaka and Bleda, Marta and Bleda, Marta and Haimel, Matthias and Haimel, Matthias and Screaton, Nicholas and Screaton, Nicholas and Swift, Andrew and Swift, Andrew and Dorfmüller, Peter and Dorfmüller, Peter and Preston, Stephen D and Preston, Stephen D and Southwood, Mark and Southwood, Mark and Hernandez-Sanchez, Jules and Hernandez-Sanchez, Jules and Martin, Jennifer and Martin, Jennifer and Treacy, Carmen and Treacy, Carmen and Yates, Katherine and Yates, Katherine and Bogaard, Harm and Bogaard, Harm and Church, Colin and Church, Colin and Coghlan, Gerry and Coghlan, Gerry and Condliffe, Robin and Condliffe, Robin and Corris, Paul A and Corris, Paul A and Gibbs, Simon and Gibbs, Simon and Girerd, Barbara and Girerd, Barbara and Holden, Simon and Holden, Simon and Humbert, Marc and Humbert, Marc and Kiely, David G and Kiely, David G and Lawrie, Allan and Lawrie, Allan and Machado, Rajiv and Machado, Rajiv and MacKenzie Ross, Robert and Ross, Robert Mackenzie and Moledina, Shahin and Moledina, Shahin and Montani, David and Montani, David and Newnham, Michael and Newnham, Michael and Peacock, Andrew and Peacock, Andrew and Pepke-Zaba, Joanna and Pepke-Zaba, Joanna and Rayner-Matthews, Paula and Rayner-Matthews, Paula and Shamardina, Olga and Shamardina, Olga and Soubrier, Florent and Soubrier, Florent and Southgate, Laura and Southgate, Laura and Suntharalingam, Jay and Suntharalingam, Jay and Toshner, Mark and Toshner, Mark and Trembath, Richard and Trembath, Richard and Noordegraaf, Anton Vonk and Vonk Noordegraaf, Anton and Wilkins, Martin R and Wilkins, Martin R and Wort, Stephen J and Wort, Stephen J and Wharton, John and Wharton, John and Gräf, Stefan and Gräf, Stefan and Morrell, Nicholas W and Morrell, Nicholas W and UK Natl Cohort Study Idiopathic He and BioResource-Rare Dis Consortium and NIHR BioResource–Rare Diseases Consortium; UK National Cohort Study of Idiopathic and Heritable PAH
Circulation, ISSN 0009-7322, 11/2017, Volume 136, Issue 21, pp. 2022 - 2033
Journal Article