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by Beaumont, Robin N and Warrington, Nicole M and Cavadino, Alana and Tyrrell, Jessica and Nodzenski, Michael and Horikoshi, Momoko and Geller, Frank and Myhre, Ronny and Richmond, Rebecca C and Paternoster, Lavinia and Bradfield, Jonathan P and Kreiner-Møller, Eskil and Huikari, Ville and Metrustry, Sarah and Lunetta, Kathryn L and Painter, Jodie N and Hottenga, Jouke-Jan and Allard, Catherine and Barton, Sheila J and Espinosa, Ana and Marsh, Julie A and Potter, Catherine and Zhang, Ge and Ang, Wei and Berry, Diane J and Bouchard, Luigi and Das, Shikta and Hakonarson, Hakon and Heikkinen, Jani and Helgeland, Øyvind and Hocher, Berthold and Hofman, Albert and Inskip, Hazel M and Jones, Samuel E and Kogevinas, Manolis and Lind, Penelope A and Marullo, Letizia and Medland, Sarah E and Murray, Anna and Murray, Jeffrey C and Njølstad, Pål R and Nohr, Ellen A and Reichetzeder, Christoph and Ring, Susan M and Ruth, Katherine S and Santa-Marina, Loreto and Scholtens, Denise M and Sebert, Sylvain and Sengpiel, Verena and Tuke, Marcus A and Vaudel, Marc and Weedon, Michael N and Willemsen, Gonneke and Wood, Andrew R and Yaghootkar, Hanieh and Muglia, Louis J and Bartels, Meike and Relton, Caroline L and Pennell, Craig E and Chatzi, Leda and Estivill, Xavier and Holloway, John W and Boomsma, Dorret I and Montgomery, Grant W and Murabito, Joanne M and Spector, Tim D and Power, Christine and Järvelin, Marjo-Ritta and Bisgaard, Hans and Grant, Struan F A and Sørensen, Thorkild I A and Jaddoe, Vincent W and Jacobsson, Bo and Melbye, Mads and McCarthy, Mark I and Hattersley, Andrew T and Hayes, M Geoffrey and Frayling, Timothy M and Hivert, Marie-France and Felix, Janine F and Hyppönen, Elina and Lowe, William L and Evans, David M and Lawlor, Debbie A and Feenstra, Bjarke and Freathy, Rachel M and Early Growth Genetics (EGG) Consortium and Early Growth Genetics EGG and Institutionen för kliniska vetenskaper, Avdelningen för obstetrik och gynekologi and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Institute of Clinical Sciences, Department of Obstetrics and Gynecology and Sahlgrenska Academy
Human molecular genetics, ISSN 1460-2083, 2018, Volume 27, Issue 4, pp. 742 - 756
Journal Article
Developmental genetics, ISSN 0192-253X, 1979
Journal
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 The Deciphering Developmental Disorders Study and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study
Nature (London), ISSN 1476-4687, 2014, Volume 519, Issue 7542, pp. 223 - 228
Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders(1... 
INTELLECTUAL DISABILITY | HUMAN-DISEASE | DE-NOVO MUTATIONS | MULTIDISCIPLINARY SCIENCES | FRAMEWORK | MODEL | AUTISM SPECTRUM DISORDERS | COPY-NUMBER VARIATION | CHILDREN | Rare Diseases - genetics | Humans | Repressor Proteins | 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
Journal Article
by Paternoster, Lavinia and Standl, Marie and Chen, Chih-Mei and Ramasamy, Adaikalavan and Bønnelykke, Klaus and Duijts, Liesbeth and Ferreira, Manuel A and Alves, Alexessander Couto and Thyssen, Jacob P and Albrecht, Eva and Baurecht, Hansjörg and Feenstra, Bjarke and Sleiman, Patrick M A and Hysi, Pirro and Warrington, Nicole M and Curjuric, Ivan and Myhre, Ronny and Curtin, John A and Groen-Blokhuis, Maria M and Kerkhof, Marjan and Sääf, Annika and Franke, Andre and Ellinghaus, David and Fölster-Holst, Regina and Dermitzakis, Emmanouil and Montgomery, Stephen B and Prokisch, Holger and Heim, Katharina and Hartikainen, Anna-Liisa and Pouta, Anneli and Pekkanen, Juha and Blakemore, Alexandra I F and Buxton, Jessica L and Kaakinen, Marika and Duffy, David L and Madden, Pamela A and Heath, Andrew C and Montgomery, Grant W and Thompson, Philip J and Matheson, Melanie C and Le Souëf, Peter and Pourcain, Beate St and Smith, George Davey and Henderson, John and Kemp, John P and Timpson, Nicholas J and Deloukas, Panos and Ring, Susan M and Wichmann, H-Erich and Müller-Nurasyid, Martina and Novak, Natalija and Klopp, Norman and Rodríguez, Elke and McArdle, Wendy and Linneberg, Allan and Menné, Torkil and Nohr, Ellen A and Hofman, Albert and Uitterlinden, André G and van Duijn, Cornélia M and Rivadeneira, Fernando and de Jongste, Johan C and van der Valk, Ralf J P and Wjst, Matthias and Jogi, Rain and Geller, Frank and Boyd, Heather A and Murray, Jeffrey C and Kim, Cecilia and Mentch, Frank and March, Michael and Mangino, Massimo and Spector, Tim D and Bataille, Veronique and Pennell, Craig E and Holt, Patrick G and Sly, Peter and Tiesler, Carla M T and Thiering, Elisabeth and Illig, Thomas and Imboden, Medea and Nystad, Wenche and Simpson, Angela and Hottenga, Jouke-Jan and Postma, Dirkje and Koppelman, Gerard H and Smit, Henriette A and Söderhäll, Cilla and Chawes, Bo and Kreiner-Møller, Eskil and Bisgaard, Hans and Melén, Erik and Boomsma, Dorret I and Custovic, Adnan and Jacobsson, Bo and Probst-Hensch, Nicole M and Palmer, Lyle J and Glass, Daniel and Hakonarson, Hakon and Melbye, Mads and ... and The Genetics of Overweight Young Adults (GOYA) Consortium and Australian Asthma Genetics Consortium (AAGC) and the EArly Genetics & Lifecourse Epidemiology (EAGLE) Consortium and Australian Asthma Genetics Consort and EArly Genetics Lifecourse Epidemio and Genetics Overweight Young Adults G and Genetics of Overweight Young Adults (GOYA) Consortium and EArly Genetics & Lifecourse Epidemiology (EAGLE) Consortium and Institutionen för kliniska vetenskaper, Avdelningen för obstetrik och gynekologi and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Institute of Clinical Sciences, Department of Obstetrics and Gynecology and Sahlgrenska Academy
Nature genetics, ISSN 1546-1718, 2011, Volume 44, Issue 2, pp. 187 - 192
Journal Article
Current opinion in genetics & development, ISSN 0959-437X, 1991
Journal
2013, Cambridge introductions to philosophy and biology., ISBN 1107002125, viii, 270
"In the past century, nearly all of the biological sciences have been directly affected by discoveries and developments in genetics, a fast-evolving subject with important theoretical dimensions... 
Genetics | Developmental genetics | Genomics | SCIENCE / Philosophy & Social Aspects | Genes | Philosophy
Book
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 (London), ISSN 1476-4687, 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
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