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by Fitzgerald, T.W and Gerety, S.S and Jones, W.D and Van Kogelenberg, M and King, D.A and McRae, J and Morley, K.I and Parthiban, V and Al-Turki, S and Ambridge, K and Barrett, D.M and Bayzetinova, T and Clayton, S and Coomber, E.L and Gribble, S and Jones, P and Krishnappa, N and Mason, L.E and Middleton, A and Miller, R and Prigmore, E and Rajan, D and Sifrim, A and Tivey, A.R and Ahmed, M and Akawi, N and Andrews, R and Anjum, U and Archer, H and Armstrong, R and Balasubramanian, M and Banerjee, R and Baralle, D and Batstone, P and Baty, D and Bennett, C and Berg, J and Bernhard, B and Bevan, A.P and Blair, E and Blyth, M and Bohanna, D and Bourdon, L and Bourn, D and Brady, A and Bragin, E and Brewer, C and Brueton, L and Brunstrom, K and Bumpstead, S.J and Bunyan, D.J and Burn, J and Burton, J and Canham, N and Castle, B and Chandler, K and Clasper, S and Clayton-Smith, J and Cole, T and Collins, A and Collinson, M.N and Connell, F and Cooper, N and Cox, H and Cresswell, L and Cross, G and Crow, Y and D'Alessandro, M and Dabir, T and Davidson, R and Davies, S and Dean, J and Deshpande, C and Devlin, G and Dixit, A and Dominiczak, A and Donnelly, C and Donnelly, D and Douglas, A and Duncan, A and Eason, J and Edkins, S and Ellard, S and Ellis, P and Elmslie, F and Evans, K and Everest, S and Fendick, T and Fisher, R and Flinter, F and Foulds, N and Fryer, A and Fu, B and Gardiner, C and Gaunt, L and Ghali, N and Gibbons, R and Gomes Pereira, S.L and Goodship, J and Goudie, D and ... and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study and The Deciphering Developmental Disorders Study
Nature, ISSN 0028-0836, 03/2015, Volume 519, Issue 7542, pp. 223 - 228
Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders(1), up to half of children with... 
INTELLECTUAL DISABILITY | HUMAN-DISEASE | DE-NOVO MUTATIONS | MULTIDISCIPLINARY SCIENCES | FRAMEWORK | MODEL | AUTISM SPECTRUM DISORDERS | COPY-NUMBER VARIATION | CHILDREN | Rare Diseases - genetics | Humans | Parents | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Dynamin I - genetics | Mutation, Missense - genetics | Polycomb Repressive Complex 1 - genetics | Gene Expression Regulation, Developmental | Transposases - genetics | Female | Nuclear Proteins - genetics | Child | Developmental Disabilities - diagnosis | Infant, Newborn | Guanine Nucleotide Exchange Factors - genetics | Protein Phosphatase 2 - genetics | Protein-Serine-Threonine Kinases - genetics | United Kingdom | Phosphoproteins - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Nerve Tissue Proteins - genetics | Genome, Human - genetics | Homeodomain Proteins - genetics | Zebrafish - genetics | Chromosomal Proteins, Non-Histone - genetics | Carrier Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Animals | Adolescent | Chromosome Aberrations | Genes, Dominant - genetics | Usage | Genomics | Child development deviations | Genetic aspects | Research | Risk factors | Developmental disabilities | Studies | Hypotheses | Genes | Developmental psychology | Families & family life | Genomes | Mutation | Children & youth | Index Medicus
Journal Article
eJournal
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
Developmental genetics, ISSN 0192-253X, 1979
Journal
2017, Edition 15., ISBN 0702066850, x, 400 pages
"Everything a student needs to know about medical genetics is here in the 15th ediction of this award-winning textbook. Thoroughly updated and revised... 
Genetic Diseases, Inborn | Genetics, Medical | Human genetics | Medical genetics
Book
by Hibar, Derrek and Stein, J.L and Rentería, Miguel and Arias-Vásquez, Alejano and Desrivières, Sylvane and Jahanshad, Neda and Toro, Roberto and Wittfeld, Katharina and Abramovic, Lucija and Andersson, Micael and Aribisala, Benjamin and Armstrong, Nicola J and Bernard, Manon and Bohlken, Marc M and Boks, Marco and Bralten, Linda and Brown, Anew and Chakravarty, M. Mallar and Chen, Qiang and Ching, Christopher and Cuellar-Partida, Gabriel and Braber, Anouk and Giddaluru, Sudheer and Goldman, Aaron L and Grimm, Oliver and Guadalupe, Tulio and Hass, Johanna and Woldehawariat, Girma and Holmes, Avram and Hoogman, Martine and Janowitz, Deborah and Jia, Tianye and Kim, Shinseog and Klein, Marieke and Kraemer, Bernd and Lee, Phil H and Olde Loohuis, Loes M and Luciano, Michelle and MacAre, Christine and Mather, R and Mattheisen, Manuel and Milaneschi, Yuri and Nho, Kwangsik and Papmeyer, Martina and Ramasamy, Adaikalavan and Risacher, Shannon and Roiz-Santiañez, Roberto and Rose, Emma and Salami, Alireza and Sämann, Philipp and Schmaal, Lianne and Schork, Nicholas and Shin, Jean and Strike, Vanessa and Teumer, Alexander and Van Donkelaar, Marjolein M. J and Eijk, Kristel and Walters, Raymond and Westlye, Lars and Whelan, Christopher and Winkler, Anderson and Zwiers, Marcel and Alhusaini, Saud and Athanasiu, Lavinia and Ehrlich, Stefan and Hakobjan, Marina and Hartberg, Cecilie B and Haukvik, Unn and Heister, Angelien J. G. A. M and Hoehn, David and Kasperaviciute, Dalia and Liewald, David C and Lopez, Lorna and Makkinje, Remco R. R and Matarin, Mar and Naber, Marlies A. M and Reese McKay, D and Needham, Margaret and Nugent, Allison and Pütz, Benno and Royle, Natalie and Shen, Li and Sprooten, Roy and Trabzuni, Danyah and Van Der Marel, Saskia S. L and Van Hulzen, Kimm J. E and Walton, Esther and Björnsson, Asgeir and Almasy, Laura and Ames, David and Arepalli, Sampath and Assareh, A.A and Bastin, Mark and Brodaty, Henry and Bulayeva, Kazima and Carless, Melanie and Cichon, Sven and Corvin, Aiden and Curran, Joanne and Czisch, Michael and ... and EPIGEN and SYS and Alzheimers Dis Neuroimaging and CHARGE Consortium and IMAGEN and Alzheimer’s Disease Neuroimaging Initiative and The Alzheimer’s Disease Neuroimaging Initiative and The CHARGE Consortium and Stockholms universitet and Centrum för forskning om äldre och åldrande (ARC), (tills m KI) and Samhällsvetenskapliga fakulteten
Nature: international weekly journal of science, ISSN 0028-0836, 04/2015, Volume 520, Issue 7546, pp. 224 - 229
Journal Article