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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
by Naghavi, Mohsen and Abajobir, Amanuel Alemu and Abbafati, Cristiana and Abbas, Kaja M and Abd-Allah, Foad and Abera, Semaw Ferede and Aboyans, Victor and Adetokunboh, Olatunji and Afshin, Ashkan and Agrawal, Anurag and Ahmadi, Alireza and Ahmed, Muktar Beshir and Aichour, Ibtihel and Aichour, Miloud Taki Eddine and Aichour, Amani Nidhal and Aiyar, Sneha and Alahdab, Fares and Al-Aly, Ziyad and Alam, Tahiya and Alam, Noore and Alam, Khurshid and Alene, Kefyalew Addis and Al-Eyadhy, Ayman and Ali, Syed Danish and Alizadeh-Navaei, Reza and Alkaabi, Juma M and Alkerwi, Ala'a and Alla, François and Allebeck, Peter and Allen, Christine and Al-Raddadi, Rajaa and Alsharif, Ubai and Altirkawi, Khalid A and Alvis-Guzman, Nelson and Amare, Azmeraw T and Amini, Erfan and Ammar, Walid and Amoako, Yaw Ampem and Anber, Nahla and Andersen, Hjalte H and Andrei, Catalina Liliana and Androudi, Sofia and Ansari, Hossein and Antonio, Carl Abelardo T and Anwari, Palwasha and Ärnlöv, Johan and Arora, Megha and Artaman, Al and Aryal, Krishna Kumar and Asayesh, Hamid and Asgedom, Solomon W and Atey, Tesfay Mehari and Avila-Burgos, Leticia and Avokpaho, Euripide Frinel G and Awasthi, Ashish and Babalola, Tesleem Kayode and Bacha, Umar and Balakrishnan, Kalpana and Barac, Aleksandra and Barboza, Miguel A and Barker-Collo, Suzanne L and Barquera, Simon and Barregard, Lars and Barrero, Lope H and Baune, Bernhard T and Bedi, Neeraj and Beghi, Ettore and Béjot, Yannick and Bekele, Bayu Begashaw and Bell, Michelle L and Bennett, James R and Bensenor, Isabela M and Berhane, Adugnaw and Bernabé, Eduardo and Betsu, Balem Demtsu and Beuran, Mircea and Bhatt, Samir and Biadgilign, Sibhatu and Bienhoff, Kelly and Bikbov, Boris and Bisanzio, Donal and Bourne, Rupert R A and Breitborde, Nicholas J K and Bulto, Lemma Negesa Bulto and Bumgarner, Blair R and Butt, Zahid A and Cahuana-Hurtado, Lucero and Cameron, Ewan and Campuzano, Julio Cesar and Car, Josip and Cárdenas, Rosario and Carrero, Juan Jesus and Carter, Austin and Casey, Daniel C and Castañeda-Orjuela, Carlos A and Catalá-López, Ferrán and Charlson, Fiona J and Chibueze, Chioma Ezinne and Chimed-Ochir, Odgerel and Chisumpa, Vesper Hichilombwe and ... and GBD 2016 Causes Death Collaborato and GBD 2016 Causes of Death Collaborators and Medicinska fakulteten and Klinisk kemi and Medicinska och farmaceutiska vetenskapsområdet and Uppsala universitet and Institutionen för medicinska vetenskaper
The Lancet, ISSN 0140-6736, 09/2017, Volume 390, Issue 10100, pp. 1151 - 1210
Monitoring levels and trends in premature mortality is crucial to understanding how societies can address prominent sources of early death. The Global Burden... 
UNITED-STATES | AFRICA | MEDICINE, GENERAL & INTERNAL | QUALITY | PLASMODIUM-FALCIPARUM | CLIMATE-CHANGE | RUSSIA | ALCOHOL POLICY | INCOME COUNTRIES | HEALTH | TRENDS | Age Distribution | Global Burden of Disease - statistics & numerical data | Humans | Middle Aged | Child, Preschool | Infant | Male | Socioeconomic Factors | Nutrition Disorders - mortality | Young Adult | Pregnancy Complications - mortality | Global Health - statistics & numerical data | Aged, 80 and over | Adult | Female | Child | Communicable Diseases - mortality | Infant, Newborn | Disasters - statistics & numerical data | Noncommunicable Diseases - mortality | Pregnancy | Wounds and Injuries - mortality | Adolescent | Cause of Death - trends | Aged | Medicine, Experimental | Medical research | Health aspects | Epidemiology | Mortality | Disease | Sexes | Sustainable development | Public health | Age | Age groups | Validation studies | Geography | Neonates | Cardiomyopathy | Stars | Disorders | Statistical methods | Neoplasms | Acquired immune deficiency syndrome--AIDS | Autopsy | Fertility | Coding | Human immunodeficiency virus--HIV | Chronic obstructive pulmonary disease | Malaria | Violence | Diarrhea | Disaggregation | Trauma | Studies | Charities | Infectious diseases | Tuberculosis | Death | Median (statistics) | Cardiovascular diseases | Garbage | Drug abuse | Sexually transmitted diseases--STD | Sex | Infections | Birth | Demographics | Encephalopathy | Children | Heart diseases | Injuries | Vector-borne diseases | Autopsies | Congenital diseases | Terrorism | Complications | Aggression | Diabetes mellitus | Lung diseases | Time series | Asphyxia | Estimates | Coronary artery disease | Childbirth & labor | Life span | Global Health Metrics | Hälsovetenskaper | Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi | Medical and Health Sciences | Medicin och hälsovetenskap | Public Health, Global Health, Social Medicine and Epidemiology | Health Sciences
Journal Article
by Okbay, Aysu and Baselmans, B.M.L and Neve, Jan-Emmanuel and Turley, Patrick and Nivard, Michel and Fontana, M.A and Meddens, S.F.W and Linnér, R.K and Rietveld, C.A and Derringer, J and Gratten, Jacob and Lee, James J and Liu, J.Z and Vlaming, Ronald and SAhluwalia, T and Buchwald, J and Cavadino, Alana and Frazier-Wood, Alexis C and Furlotte, N.A and Garfield, V and Geisel, M.H and Gonzalez, Juan R and Haitjema, S and Karlsson, Robert and Der Laan, S.W and Ladwig, Karl-Heinz and Lahti, Jari and Lee, Sven and Lind, Penelope and Liu, T and Matteson, L and Mihailov, Evelin and Miller, Mike and CMinica, C and MNolte, I and Mook-Kanamori, Dennis and Most, Peter and Oldmeadow, Christopher and Qian, Yong and Raitakari, Olli and Rawal, R and Realo, A and Rueedi, R and Schmidt, B and Smith, Albert Vernon and Stergiakouli, Evangelia and Tanaka, Toshiko and Taylor, Kent and Wedenoja, J and Wellmann, J and Westra, Harm-Jan and MWillems, S and Zhao, W and Study, LifeLines Cohort and Amin, Najaf and Bakshi, A and Boyle, Patricia and Cherney, S and Cox, S.R and Davies, Gail and Davis, Oliver S and Ding, Jun and Direk, Nese and Eibich, P and Emeny, Rebecca and Fatemifar, G and Faul, J.D and Ferrucci, Luigi and Forstner, Aneas and Gieger, Christian and Gupta, R and Harris, Tamara B and Harris, Juliette and Holliday, Elizabeth and Hottenga, Jouke Jan and Jager, Philip and Kaakinen, Marika and Kajantie, Eero and Karhunen, V and Kolcic, Ivana and Kumari, Meena and Launer, Lenore and Franke, Lude and Li-Gao, R and Koini, M and Loukola, Anu and Marques-Vidal, P and Montgomery, Grant and Mosing, Miriam and Paternoster, Lavinia and Pattie, Alison and Petrovic, Katja and Pulkki-R'back, L and Quaye, Lydia and R'ikkönen, K and Rudan, Igor and Scott, Rodney and Smith, Jennifer A and Sutin, A.R and Trzaskowski, M and ... and LifeLines Cohort Study
Nature Genetics, ISSN 1061-4036, 06/2016, Volume 48, Issue 6, pp. 624 - 633
Journal Article
by Hollingworth, P and Harold, D and Sims, R and Gerrish, A and Lambert, J.C and Carrasquillo, M.M and Abraham, R and Hamshere, M.L and Pahwa, J.S and Moskvina, V and Dowzell, K and Jones, N and Stretton, A and Thomas, C and Richards, A and Ivanov, D and Widdowson, C and Chapman, J and Lovestone, S and Powell, J and Proitsi, P and Lupton, M.K and Brayne, C and Rubinsztein, D.C and Gill, M and Lawlor, B and Lynch, A and Brown, K.S and Passmore, P.A and Craig, D and McGuinness, B and Todd, S and Holmes, C and Mann, D and Smith, A.D and Beaumont, H and Warden, D and Wilcock, G and Love, S and Kehoe, P.G and Hooper, N.M and Vardy, E.R.L.C and Hardy, J and Mead, S and Fox, N.C and Rossor, M and Collinge, J and Maier, W and Jessen, F and Ruther, E and Schurmann, B and Heun, R and Kolsch, H and van den Bussche, H and Heuser, I and Kornhuber, J and Wiltfang, J and Dichgans, M and Frolich, L and Hampel, H and Gallacher, J and Hull, M and Rujescu, D and Giegling, I and Goate, A.M and Kauwe, J.S.K and Cruchaga, C and Nowotny, P and Morris, J.C and Mayo, K and Sleegers, K and Bettens, K and Engelborghs, S and de Deyn, P.P and Van Broeckhoven, C and Livingston, G and Bass, N.J and Gurling, H and McQuillin, A and Gwilliam, R and Deloukas, P and Al-Chalabi, A and Shaw, C.E and Tsolaki, M and Singleton, A.B and Guerreiro, R and Muhleisen, T. W and Nothen, M. M and Moebus, S and Jockel, K.H and Klopp, N and Wichmann, H. E and Pankratz, V.S and Sando, S.B and Aasly, J.O and Barcikowska, M and Wszolek, Z.K and Dickson, D.W and Graff-Radford, N.R. and others and Alzheimer's Dis Neuroimaging and EADI1 Consortium and CHARGE Consortium and the Alzheimer's Disease Neuroimaging Initiative and EADI1 consortium and CHARGE consortium
Nature Genetics, ISSN 1061-4036, 2011, Volume 43, Issue 5, pp. 429 - 435
We sought to identify new susceptibility loci for Alzheimer's disease through a staged association study (GERAD+) and by testing suggestive loci reported by... 
IDENTIFIES VARIANTS | GENETICS & HEREDITY | GENE-EXPRESSION | RISK | LOCI | APOE | CR-1 | CLU | RECEPTOR TYROSINE KINASE | GENOME-WIDE ASSOCIATION | PICALM | Usage | Genetic aspects | Disease susceptibility | Research | Single nucleotide polymorphisms | Drug therapy | Alzheimer's disease | Health aspects | Risk factors | Genomes | Medical imaging | Biomedical research | Alzheimers disease | Genes
Journal Article