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by Shakur, Haleema and Roberts, Ian and Fawole, Bukola and Chaudhri, Rizwana and El-Sheikh, Mohamed and Akintan, Adesina and Qureshi, Zahida and Kidanto, Hussein and Vwalika, Bellington and Abdulkadir, Abdulfetah and Etuk, Saturday and Noor, Shehla and Asonganyi, Etienne and Alfirevic, Zarko and Beaumont, Danielle and Ronsmans, Carine and Arulkumaran, Sabaratnam and Grant, Adrian and Afsana, Kaosar and Gülmezoglu, Metin and Hunt, Beverley and Olayemi, Oladapo and Chalmers, Iain and Lumbiganon, Pisake and Piaggio, Gilda and Brady, Tony and Elbourne, Diana and Balogun, Eni and Pepple, Tracey and Prowse, Danielle and Quashi, Nigel and Barneston, Lin and Barrow, Collette and Cook, Lisa and Frimley, Lauren and Gilbert, Daniel and Gilliam, Catherine and Jackson, Ayiko and Jackson, Rob and Kawahara, Taemi and Miah, Hakim and Kostrov, Sergey and Ramos, Maria and Edwards, Phil and Godec, Tom and Huque, Sumaya and Okunade, Olujide and Adetayo, Olusade and Kayani, Aasia and Javaid, Kiran and Biryabarema, Chrstine and Biryabarema, Christine and Tchounzou, Robert and Regmi, Mohan and Dallaku, Kastriot and Sahani, Mateus and Akhter, Sayeba and Meda, Nicolas and Dah, Anthony Kwame and Odekunle, Olufemi and Monehin, Oluwabusola and Ojo, Austin and Akinbinu, Grace and Offiah, Ifeoma and Akpan, Ubong and Udofia, Uduak and Okon, Useneno and Omoronyia, Ezukwa and James, Okpe and Bello, Nike and Adeyemi, Oluwaseun and Adeyemi, Blessed and Adeyemi, Babalola and Aimakhu, Chris and Akinsanya, Olufemi and Adeleye, Bamidele and Oluwatosin, Kayode and Aboyeji, Abiodun and Adeniran, Abiodun and Adewale, Adebayo and Olaomo, Noah and Omo-Aghoja, Lawrence and Okpako, Emmanuel and Oyeye, Lucky and Alu, Francis and Ogudu, John and Ladan, Ezekiel and Habib, Ibrahim and Okusanya, Babasola and Onafowokan, Olatunde and Isah, David and Aye, Abalaka and Okogbo, Felix and Aigere, Egbaname and Ogbiti, Mark and Onile, Temitope and Salau, Olaide and Amode, Yinka and Shoretire, Kamil and Owodunni, Adebola and ... and Natl Coordinators and Nigeria Coordinating Team and Pakistan Coordinating Team and Trial Coordinating Team and Protocol Comm and Steering Comm and WOMAN Trial Collaborators
Lancet, The, ISSN 0140-6736, 2017, Volume 389, Issue 10084, pp. 2105 - 2116
Journal Article
Recent results in cancer research. Fortschritte der Krebsforschung. Progrès dans les recherches sur le cancer, ISSN 0080-0015, 2016, Volume 205, pp. 1 - 15
The ability to identify genetic mutations causing an increased risk of cancer represents the first widespread example of personalised medicine, in which... 
Diagnostic use of next-generation sequencing | Genetic testing | Molecular diagnosis of inherited cancer | Neoplastic Syndromes, Hereditary - diagnosis | Neoplastic Syndromes, Hereditary - genetics | Genetic Testing | Humans | Patient Participation
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 | 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
Journal of Clinical Investigation, ISSN 0021-9738, 05/2015, Volume 125, Issue 5, pp. 2151 - 2160
Journal Article
Nature Genetics, ISSN 1061-4036, 2009, Volume 41, Issue 5, pp. 535 - 543
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Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 1, pp. 83 - 87
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