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Journal of Endourology, ISSN 0892-7790, 09/2017, Volume 31, Issue S2, pp. P1 - A474
Journal Article
Journal of Endourology, ISSN 0892-7790, 11/2016, Volume 30, Issue S2, pp. P1 - A464
Journal Article
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 Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study and The Deciphering Developmental Disorders Study
Nature, ISSN 0028-0836, 03/2015, 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
by Jones, G.T and Tromp, G and Kuivaniemi, H and Gretarsdottir, S and Baas, A.F and Giusti, B and Strauss, E and Hof, F.N. van 't and Webb, T.R and Erdman, R and Ritchie, M.D and Elmore, J.R and Verma, A and Pendergrass, S and Kullo, I.J and Ye, Z and Peissig, P.L and Gottesman, O and Verma, S.S and Malinowski, J and Rasmussen-Torvik, L.J and Borthwick, K.M and Smelser, D.T and Crosslin, D.R and Anade, M. de and Ryer, E.J and McCarty, C.A and Bottinger, E.P and Pacheco, J.A and Crawford, D.C and Carrell, D.S and Gerhard, G.S and Franklin, D.P and Carey, D.J and Phillips, V.L and Williams, M.J and Wei, W and Blair, R and Hill, A.A and Vasudevan, T.M and Lewis, D.R and Thomson, I.A and Krysa, J and Hill, G.B and Roake, J and Merriman, T.R and Oszkinis, G and Galora, S and Saracini, C and Abbate, R and Pulli, R and Pratesi, C and Saratzis, A and Verissimo, A.R and Bumpstead, S and Badger, S.A and Clough, R.E and Cockerill, G and Hafez, H and Scott, D.J and Futers, T.S and Romaine, S.P and Bridge, K and Griffin, K.J and Bailey, M.A and Smith, A and Thompson, M.M and Bockxmeer, F.M. van and Matthiasson, S.E and Thorleifsson, G and Thorsteinsdottir, U and Blankensteijn, J.D and Teijink, J.A and Wijmenga, C and Graaf, J. de and Kiemeney, L.A.L.M and Lindholt, J.S and Hughes, A and Bradley, D.T and Stirrups, K and Golledge, J and Norman, P.E and Powell, J.T and Humphries, S.E and Hamby, S.E and Goodall, A.H and Nelson, C.P and Sakalihasan, N and Courtois, A and Ferrell, R.E and Eriksson, P and Folkersen, L and Franco-Cereceda, A and Eicher, J.D and Johnson, A.D and Betsholtz, C and Ruusalepp, A and Franzen, O and Schadt, E.E and Bjorkegren, J.L and ... and Cardiogenics Consortium and Int Consortium Blood Pressure and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Uppsala universitet and Vaskulärbiologi
Circulation Research, ISSN 0009-7330, 2017, Volume 120, Issue 2, pp. 341 - 353
RATIONALE: Abdominal aortic aneurysm (AAA) is a complex disease with both genetic and environmental risk factors. Together, 6 previously identified risk loci... 
computational biology | meta-analysis | genetics | aortic aneurysm abdominal | matrix metalloproteinases | genome-wide association study | C-REACTIVE PROTEIN | TRANSCRIPTION FACTORS | CARDIAC & CARDIOVASCULAR SYSTEMS | SEQUENCE VARIANT | aortic aneurysm, abdominal | SUSCEPTIBILITY LOCI | ELECTRONIC MEDICAL-RECORDS | HUMAN PREFRONTAL CORTEX | DENSITY-LIPOPROTEIN CHOLESTEROL | PERIPHERAL VASCULAR DISEASE | CANDIDATE GENE ASSOCIATION | HEMATOLOGY | RECEPTOR-RELATED PROTEIN-1 | CORONARY-ARTERY-DISEASE | Aortic Aneurysm, Abdominal - diagnosis | Genetic Predisposition to Disease - genetics | Humans | Genetic Loci - genetics | Genome-Wide Association Study - trends | Aortic Aneurysm, Abdominal - genetics | Genetic Variation - genetics | Aortic Aneurysm, Abdominal - epidemiology | Genetic Predisposition to Disease - epidemiology | Genome-Wide Association Study - methods | Diabetes mellitus | Coronary artery | Aneurysm | Aneurysms | Lipids | Cardiovascular disease | Genomes | Single-nucleotide polymorphism | Risk factors | Gelatinase B | Chromosome 1 | Interleukin 6 | Interleukin 6 receptors | Aorta | Lipoprotein (low density) receptors | Blood pressure | Chromosome 13 | Heritability | Cardiovascular diseases | Heart diseases | 10082 | Clinical Track | 10084 | 10185 | 10195 | 10014 | Medical and Health Sciences | Hematology | Medicin och hälsovetenskap | Klinisk medicin | Kardiologi | Clinical Medicine | Cardiac and Cardiovascular Systems | aortic aneurysm | Hematologi | abdominal
Journal Article
by Laurance, William F and Carolina Useche, D and Rendeiro, Julio and Kalka, Margareta and Bradshaw, Corey J. A and Sloan, Sean P and Laurance, Susan G and Campbell, Mason and Abernethy, Kate and Alvarez, Patricia and Arroyo-Rodriguez, Victor and Ashton, Peter and Benítez-Malvido, Julieta and Blom, Allard and Bobo, Kadiri S and Cannon, Charles H and Cao, Min and Carroll, Richard and Chapman, Colin and Coates, Rosamond and Cords, Marina and Danielsen, Finn and De Dijn, Bart and Dinerstein, Eric and Donnelly, Maureen A and Edwards, David and Edwards, Felicity and Farwig, Nina and Fashing, Peter and Forget, Pierre-Michel and Foster, Mercedes and Gale, George and Harris, David and Harrison, Rhett and Hart, John and Karpanty, Sarah and John Kress, W and Krishnaswamy, Jagdish and Logsdon, Willis and Lovett, Jon and Magnusson, William and Maisels, Fiona and Marshall, Andrew R and McClearn, Deedra and Mudappa, Divya and Nielsen, Martin R and Pearson, Richard and Pitman, Nigel and Van Der Ploeg, Jan and Plumptre, Andrew and Poulsen, John and Quesada, Mauricio and Rainey, Hugo and Robinson, Douglas and Roetgers, Christiane and Rovero, Francesco and Scatena, Frederick and Schulze, Christian and Sheil, Douglas and Struhsaker, Thomas and Terborgh, John and Thomas, Duncan and Timm, Robert and Nicolas Urbina-Cardona, J and Vasudevan, Karthikeyan and Joseph Wright, S and Carlos Arias-G, Juan and Arroyo, Luzmila and Ashton, Mark and Auzel, Philippe and Babaasa, Dennis and Babweteera, Fred and Baker, Patrick and Banki, Olaf and Bass, Margot and Bila-Isia, Inogwabini and Blake, Stephen and Brockelman, Warren and Brokaw, Nicholas and Brühl, Carsten A and Bunyavejchewin, Sarayudh and Chao, Jung-Tai and Chave, Jerome and Chellam, Ravi and Clark, Connie J and Clavijo, José and Congdon, Robert and Corlett, Richard and Dattaraja, H.S and Dave, Chittaranjan and Davies, Glyn and De Mello Beisiegel, Beatriz and De Nazaré Paes Da Silva, Rosa and Di Fiore, Anthony and Diesmos, Arvin and Dirzo, Rodolfo and Doran-Sheehy, Diane and Eaton, Mitchell and Emmons, Louise and Estrada, Alejandro and ...
Nature, ISSN 0028-0836, 09/2012, Volume 489, Issue 7415, pp. 290 - 293
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 10/2015, Volume 373, Issue 15, pp. 1408 - 1417
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
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