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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 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), 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 | 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
Cancer research (Chicago, Ill.), ISSN 1538-7445, 2017, Volume 77, Issue 12, pp. 3181 - 3193
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 (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
Journal Article
Nuclear Medicine and Biology, ISSN 0969-8051, 2010, Volume 37, Issue 7, pp. 821 - 829
Abstract A technetium-99m-labeled derivative from sulfanilamide, further referred to as99m Tc-N-SFC, targeting infections in experimental animals, has been synthesized... 
Radiology
Journal Article
Acta geotechnica, ISSN 1861-1133, 2018, Volume 15, Issue 3, pp. 735 - 759
In the last few decades, several empirical correlations of SPT-N with geotechnical parameters of sand have been developed based on conventional field and laboratory test results... 
Sands | Geotechnical parameters | SPT-N value | Improved correlations | DENSITY | SHAPE | SOILS | SIZE | ENGINEERING, GEOLOGICAL | VOID RATIO | STRENGTH | Correlation | Parameters | Sand | Computer simulation | Laboratories | Relative density | Void ratio | Empirical analysis | Laboratory tests | Overburden | Comparative studies | Uniformity coefficient | Framework | Geotechnics
Journal Article
by Faundes, Víctor and Newman, William G and Bernardini, Laura and Canham, Natalie and Clayton-Smith, Jill and Dallapiccola, Bruno and Davies, Sally J and Demos, Michelle K and Goldman, Amy and Gill, Harinder and Horton, Rachel and Kerr, Bronwyn and Kumar, Dhavendra and Lehman, Anna and McKee, Shane and Morton, Jenny and Parker, Michael J and Rankin, Julia and Robertson, Lisa and Temple, I. Karen and Banka, Siddharth and Adam, Shelin and du Souich, Christèle and Elliott, Alison M and Mwenifumbo, Jill and Nelson, Tanya N and van Karnebeek, Clara and Friedman, Jan M and 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 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 Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan 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 ... 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, 2018, Volume 102, Issue 1, pp. 175 - 187
Journal Article
Applied Physics Letters, ISSN 0003-6951, 02/2007, Volume 90, Issue 9, pp. 093110 - 093110-3
The authors report on efficient spin injection from a n - Zn 0.96 Mn 0.04 Se layer into an InAs single quantum dot (SQD... 
Journal Article
by Gorman, Kathleen M and Meyer, Esther and Grozeva, Detelina and Spinelli, Egidio and Carss, Keren J and Reich, Adi and Schneider, Amy L and Simpson, Michael A and Debelle, Geoff D and Wassmer, Evangeline and Morton, Jenny and Sieciechowicz, Diana and King, Mary D and Cross, J. Helen and Mefford, Heather C and Scheffer, Ingrid E and Haack, Tobias B and Clayton, Stephen and Prigmore, Elena and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and King, Daniel and Krishnappa, Netravathi and Singh, Tarjinder and Tivey, Adrian R and Anjum, Uruj and Archer, Hayley and Awada, Jana and Balasubramanian, Meena and Baralle, Diana and Barnicoat, Angela and Baty, David and Bennett, Chris and Bernhard, Birgitta and Bevan, A. Paul and Blyth, Moira and Bohanna, David and Bourdon, Louise and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena 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 Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D’Alessandro, Mariella and Davidson, Rosemarie and de Vries, Dylan and Deshpande, Charu and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellis, Ian and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and Gibbons, Richard and Goodship, Judith and Goudie, David and Gray, Emma and Green, Andrew and Harrison, Rachel and Harrison, Lucy and Harrison, Victoria and Hawkins, Rose and He, Liu and Hellens, Stephen and Henderson, Alex and Hewitt, Sarah and Hildyard, Lucy and ... and Deciphering Developmental Disorders Study and NIHR BioResource and UK10K Consortium and Deciphering Dev Disorders Study
The American Journal of Human Genetics, ISSN 0002-9297, 05/2019, Volume 104, Issue 5, pp. 948 - 956
Journal Article