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by Lord, Jenny and McMullan, Dominic J and Eberhardt, Ruth Y and Rinck, Gabriele and Hamilton, Susan J and Quinlan-Jones, Elizabeth and Prigmore, Elena and Keelagher, Rebecca and Best, Sunayna K and Carey, Georgina K and Mellis, Rhiannon and Robart, Sarah and Berry, Ian R and Chandler, Kate E and Cilliers, Deirdre and Cresswell, Lara and Edwards, Sandra L and Gardiner, Carol and Henderson, Alex and Holden, Simon T and Homfray, Tessa and Lester, Tracy and Lewis, Rebecca A and Newbury-Ecob, Ruth and Prescott, Katrina and Quarrell, Oliver W and Ramsden, Simon C and Roberts, Eileen and Tapon, Dagmar and Tooley, Madeleine J and Vasudevan, Pradeep C and Weber, Astrid P and Wellesley, Diana G and Westwood, Paul and White, Helen and Parker, Michael and Williams, Denise and Jenkins, Lucy and Scott, Richard H and Kilby, Mark D and Chitty, Lyn S and Hurles, Matthew E and Maher, Eamonn R and Bateman, Mark and Berry, Ian R and Best, Sunayna K and Campbell, Carolyn and Campbell, Jenni and Carey, Georgina and Chandler, Kate E and Chitty, Lyn S and Cilliers, Deirdre and Cohen, Kelly and Collingwood, Emma and Constantinou, Panayiotis and Cresswell, Lara and Delmege, Catherine and Eberhardt, Ruth Y and Edwards, Sandra L and Ellis, Richard and Evans, Jerry and Everett, Thomas and Pinto, Clare F and Forrester, Natalie and Fowler, Emma and Gardiner, Carol and Hamilton, Susan and Healey, Karen and Henderson, Alex and Holden, Simon T and Homfray, Tessa and Hudson, Rebecca and Hurles, Matthew E and Jenkins, Lucy and Keelagher, Rebecca and Kilby, Mark D and Lester, Tracey and Lewis, Rebecca and Lord, Jenny and Maher, Eamonn R and Marton, Tamas and McMullan, Dominic J and Mehta, Sarju and Mellis, Rhiannon and Newbury-Ecob, Ruth and Park, Soo-Mi and Parker, Michael and Prescott, Katrina and Prigmore, Elena and Quarrell, Oliver W and Quinlan-Jones, Elizabeth and Ramsden, Simon C and Rinck, Gabriele and Robart, Sarah and Roberts, Eileen and Rowland, Jayne and Scott, Richard H and Steer, James and Tapon, Dagmar and Taylor, Emma J and ... and Prenatal Assessment of Genomes and Exomes Consortium and Prenatal Assessment Genomes Exomes
The Lancet (British edition), ISSN 0140-6736, 02/2019, Volume 393, Issue 10173, pp. 747 - 757
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Fetus - abnormalities | Congenital Abnormalities - epidemiology | Fetus - diagnostic imaging | Prospective Studies | Humans | Parents | Perinatal Death - etiology | Male | DNA Copy Number Variations - genetics | Whole Exome Sequencing - methods | Abnormal Karyotype - embryology | Congenital Abnormalities - diagnosis | Pregnancy | Abortion, Spontaneous - epidemiology | Congenital Abnormalities - genetics | Nuchal Translucency Measurement | Stillbirth - epidemiology | Abnormal Karyotype - statistics & numerical data | Female | Live Birth - epidemiology | Fetal Development - genetics | Abortion, Eugenic - statistics & numerical data | Infant, Newborn | Whole Exome Sequencing - statistics & numerical data | Ultrasound imaging | Pregnant women | Heart | Intellectual disabilities | Copy number | Genes | Disorders | Prenatal development | Aneuploidy | Genomes | Gestation | Microcephaly | Genetic screening | Gene sequencing | Disability | Proteins | Parents & parenting | Ultrasonic imaging | Next-generation sequencing | Scoliosis | Heart diseases | Ultrasound | Deoxyribonucleic acid--DNA | Phenotypes | Congenital diseases | Research & development--R&D | Fetuses | Abnormalities | Birth defects | Heredity | Hearing impairment | Coronary artery disease | Genetic variance | DNA microarrays | Gene frequency | Diagnostic systems | Cardiovascular diseases | Anomalies | Index Medicus | Abridged Index Medicus
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 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | 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 Tan, Wei Shen and Teo, Chin Hai and Chan, Delcos and Heinrich, Malgorzata and Feber, Andrew and Sarpong, Rachael and Allan, Jennifer and Williams, Norman and Brew‐Graves, Chris and Ng, Chirk Jenn and Kelly, John D and Khetrapal, P and ridhar, A and Baker, H and Ocampo, F and Whotton, N and Dent, K and Pearson, S and Hatton, J and Newton, M and Heeney, E and Green, K and Evans, S and Rogers, M and Dann, A and Cook, J and Cornwell, M and Mills, R and Knight, H and Maher, S and Rane, A and Thomas, S and Reyner, S and Vallejera, G and Adeniran, P and Masood, S and Ridgway, S and Coulding, M and Savill, H and Mccormick, J and Clark, M and Collins, G and Jewers, K and Keith, S and Bowen, G and Hargreaves, J and Riley, K and Srirangam, S and Mistry, R and Chadwick, J and Cocks, S and Hull, R and Loftus, A and Dawson, L and Roberts, H and Main, C and Jain, S and Waymont, C and Rogers, J and Grant, A and Carter, V and Heap, H and Lomas, C and Cooke, P and Baird, Y and Moore, S and Greenslade, S and Margalef, J and Chadbourn, I and Harris, M and Hicks, J and Clitheroe, P and Connolly, S and Hodgkinson, S and Haydock, H and inclair, A and Storr, E and Cogley, L and Natale, S and Lovegrove, W and Smith, S and Smith, K and Hewitt, D and Sriram, R and Atkinson, K and Royle, L and Madine, J and MacLean, K and Walsh, J and Guerdette, M and Hill, M and Payne, D and Power, A and Cannon, J and Devereaux, L and Thompson, A and Scarratt, L and Hodgkiss, T and Johnstone, D and Johnson, J and ... and DETECT II Trial Collaborators and DETECT II trial collaborators
BJU international, ISSN 1464-4096, 09/2019, Volume 124, Issue 3, pp. 408 - 417
Journal Article