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by Okbay, Aysu and Beauchamp, Jonathan and Fontana, M.A and Lee, James J and Pers, Tune and Rietveld, C.A and Turley, Patrick and Chen, G.-B and Emilsson, Valur and Meddens, S.F.W and Oskarsson, S and Pickrell, J.K and Thom, K and Timshel, P and Vlaming, Ronald and Abdellaoui, Abdel and Ahluwalia, Tarunveer Singh and Bacelis, Jonas and Baumbach, Clemens and Bjornsdottir, G and Brandsma, Johan and Pina Concas, M and Derringer, J and Furlotte, N.A and Galesloot, Tessel and Girotto, S and Gupta, R and Hall, Leanne M and Harris, Sarah and Hofer, E and Horikoshi, M and Huffman, Jennifer E and Kaasik, K and Kalafati, Ioanna-Panagiota and Karlsson, Robert and Kong, Augustine and Lahti, Jari and Lee, Sven and Deleeuw, C and Lind, Penelope and Lindgren, K.-O and Liu, T and Mangino, Massimo and Marten, Jonathan and Mihailov, Evelin and Miller, Mike and Most, Peter and Oldmeadow, Christopher and Payton, Antony and Pervjakova, Natalia and Peyrot, Wouter and Qian, Y and Raitakari, Olli and Rueedi, R and Salvi, E and Schmidt, B and Schraut, K.E and Shi, J and Smith, Albert Vernon and Poot, Raymond and St Pourcain, Beate and Teumer, Alexander and Thorleifsson, Gudmar and Verweij, Niek and Vuckovic, gana and Wellmann, J and Westra, Harm-Jan and Yang, J and Zhao, W and Zhu, Z and Alizadeh, Behrooz and Amin, Najaf and Bakshi, A and Baumeister, Sebastian and Biino, G and Bønnelykke, Klaus and Boyle, Patricia and Campbell, Harry and Cappuccio, F.P and Davies, Gail and Neve, Jan-Emmanuel and Deloukas, Panagiotis and Demuth, Ilja and Ding, J and Eibich, P and Eisele, L and Eklund, Niina and Evans, David and Faul, Jessica D and Feitosa, Mary Furlan and Forstner, Aneas and Gandin, Ilaria and Gunnarsson, B and Halldorsson, Bjarni and Harris, Tamara and Holliday, Elizabeth and Heath, Anew C and Hocking, L.J and Homuth, Georg and Horan, Mike and ... and LifeLines Cohort Study and Humanistisk-samhällsvetenskapliga vetenskapsområdet and Uppsala universitet and Statsvetenskapliga institutionen and Samhällsvetenskapliga fakulteten
Nature: international weekly journal of science, ISSN 0028-0836, 05/2016, Volume 533, Issue 7604, pp. 539 - 542
Journal Article
by Marouli, Eirini and Graff, Mariaelisa and Medina-Gomez, Carolina and Lo, Ken Sin and Wood, Anew R and Kjaer, Troels R and Fine, Rebecca S and Lu, Yingchang and Schurmann, Claudia and Highland, Heather M and Rüeger, Sina and Thorleifsson, Gudmar and Justice, Anne E and Lamparter, David and Stirrups, Kathleen E and Turcot, Valérie and Young, Kristin L and Winkler, Thomas W and Esko, Tõnu and Karaderi, Tugce and Locke, Adam E and Masca, Nicholas G. D and Ng, Maggie C. Y and Mudgal, Poorva and Rivas, Manuel A and Vedantam, Sailaja and Mahajan, Anubha and Guo, Xiuqing and Abecasis, Goncalo and Aben, Katja K and Adair, Linda S and Alam, Dewan S and Albrecht, Eva and Allin, Kristine H and Allison, Matthew and Amouyel, Philippe and Appel, Emil V and Arveiler, Dominique and Asselbergs, Folkert W and Auer, Paul L and Balkau, Beverley and Banas, Bernhard and Bang, Lia E and Benn, Marianne and Bergmann, Sven and Bielak, Lawrence F and Blüher, Matthias and Boeing, Heiner and Boerwinkle, Eric and Böger, Carsten A and Bonnycastle, Lori L and Bork-Jensen, Jette and Bots, Michiel L and Bottinger, Erwin P and Bowden, Donald W and Brandslund, Ivan and Breen, Gerome and Brilliant, Murray H and Broer, Linda and Burt, Amber A and Butterworth, Adam S and Carey, David J and Caulfield, Mark J and Chambers, John C and Chasman, Daniel I and Chen, Yii-Der Ida and Chowdhury, Rajiv and Christensen, Cramer and Chu, Auey Y and Cocca, Massimiliano and Collins, Francis S and Cook, James P and Corley, Janie and Galbany, Jordi Corominas and Cox, Amanda J and Cuellar-Partida, Gabriel and Danesh, John and Davies, Gail and de Bakker, Paul I. W and de Borst, Gert J and de Denus, Simon and de Groot, Mark C. H and de Mutsert, Renée and Deary, Ian J and Dedoussis, George and Demerath, Ellen W and den Hollander, Anneke I and Dennis, Joe G and Di Angelantonio, Emanuele and nos, Fotios and Du, Mengmeng and Dunning, Alison M and Easton, Douglas F and Ebeling, Tapani and Edwards, Todd L and Ellinor, Patrick T and Elliott, Paul and Evangelou, Evangelos and Farmaki, Aliki-Eleni and Faul, Jessica D and ... and EPIC-CVD Consortium and GoT2D Genes Consortium and MAGIC Investigators and Global Lipids Genetics Consortium and EPIC-InterAct Consortium and ReproGen Consortium and ExomeBP Consortium and CHD Exome Consortium and T2D-Genes Consortium and The EPIC-InterAct Consortium and CHD Exome+ Consortium and Medicinska fakulteten and Institutionen för folkhälsa och klinisk medicin and Enheten för biobanksforskning and Allmänmedicin and Umeå universitet and Medicin
Nature, ISSN 0028-0836, 2017, Volume 542, Issue 7640, pp. 186 - 190
Journal Article
Gut, ISSN 0017-5749, 08/2014, Volume 63, Issue 8, pp. 1367 - 1368
Journal Article
by Lee, James J and Wedow, Robbee and Okbay, Aysu and Kong, Edward and Maghzian, Omeed and Zacher, Meghan and Nguyen-Viet, Tuan Anh and Bowers, Peter and Sidorenko, Julia and Karlsson Linnér, Richard and Fontana, Mark Alan and Kundu, Tushar and Lee, Chanwook and Li, Hui and Li, Ruoxi and Royer, Rebecca and Timshel, Pascal N and Walters, Raymond K and Willoughby, Emily A and Yengo, Loïc and Agee, Michelle and Alipanahi, Babak and Auton, Adam and Bell, Robert K and Bryc, Katarzyna and Elson, Sarah L and Fontanillas, Pierre and Hinds, David A and McCreight, Jennifer C and Huber, Karen E and Litterman, Nadia K and McIntyre, Matthew H and Mountain, Joanna L and Noblin, Elizabeth S and Northover, Carrie A. M and Pitts, Steven J and Sathirapongsasuti, J. Fah and Sazonova, Olga V and Shelton, Janie F and Shringarpure, Suyash and Tian, Chao and Vacic, Vladimir and Wilson, Catherine H and Okbay, Aysu and Beauchamp, Jonathan P and Fontana, Mark Alan and Lee, James J and Pers, Tune H and Rietveld, Cornelius A and Turley, Patrick and Chen, Guo-Bo and Emilsson, Valur and Meddens, S. Fleur W and Oskarsson, Sven and Pickrell, Joseph K and Thom, Kevin and Timshel, Pascal and Vlaming, Ronald de and Abdellaoui, Abdel and Ahluwalia, Tarunveer S and Bacelis, Jonas and Baumbach, Clemens and Bjornsdottir, Gyda and Brandsma, Johannes H and Concas, Maria Pina and Derringer, Jaime and Furlotte, Nicholas A and Galesloot, Tessel E and Girotto, Giorgia and Gupta, Richa and Hall, Leanne M and Harris, Sarah E and Hofer, Edith and Horikoshi, Momoko and Huffman, Jennifer E and Kaasik, Kadri and Kalafati, Ioanna P and Karlsson, Robert and Kong, Augustine and Lahti, Jari and van der Lee, Sven J and Leeuw, Christiaan de and Lind, Penelope A and Lindgren, Karl-Oskar and Liu, Tian and Mangino, Massimo and Marten, Jonathan and Mihailov, Evelin and Miller, Michael B and van der Most, Peter J and Oldmeadow, Christopher and Payton, Antony and Pervjakova, Natalia and Peyrot, Wouter J and Qian, Yong and Raitakari, Olli and Rueedi, Rico and Salvi, Erika and Schmidt, Börge and Schraut, Katharina E and ... and 23Me Res Team and Social Sci Genetic Assoc Consortiu and COGENT Cognitive Genomics Consorti and 23andMe Research Team and COGENT (Cognitive Genomics Consortium) and Social Science Genetic Association Consortium and Humanistisk-samhällsvetenskapliga vetenskapsområdet and Uppsala universitet and Statsvetenskapliga institutionen and Samhällsvetenskapliga fakulteten
Nature Genetics, ISSN 1061-4036, 08/2018, Volume 50, Issue 8, pp. 1112 - 1121
Journal Article
by Day, Felix R and Ruth, Katherine S and Thompson, Deborah J and Lunetta, Kathryn L and Pervjakova, Natalia and Chasman, Daniel I and Stolk, Lisette and Finucane, Hilary K and Sulem, Patrick and Bulik-Sullivan, Brendan and Esko, Tonu and Johnson, Anew D and Elks, Cathy E and Franceschini, Nora and He, Chunyan and Altmaier, Elisabeth and Brody, Jennifer A and Franke, Lude L and Huffman, Jennifer E and Keller, Margaux F and McArdle, Patrick F and Nutile, Teresa and Porcu, Eleonora and Robino, Antonietta and Rose, Lynda M and Schick, Ursula M and Smith, Jennifer A and Teumer, Alexander and Traglia, Michela and Vuckovic, gana and Yao, Jie and Zhao, Wei and Albrecht, Eva and Amin, Najaf and Corre, Tanguy and Hottenga, Jouke-Jan and Mangino, Massimo and Smith, Albert V and Tanaka, Toshiko and Abecasis, Goncalo R and Anulis, Irene L and Anton-Culver, Hoda and Antoniou, Antonis C and Arndt, Volker and Arnold, Alice M and Barbieri, Caterina and Beckmann, Matthias W and Beeghly-Fadiel, Alicia and Benitez, Javier and Bernstein, Leslie and Bielinski, Suzette J and Blomqvist, Carl and Boerwinkle, Eric and Bogdanova, Natalia V and Bojesen, Stig E and Bolla, Manjeet K and Borresen-Dale, Anne-Lise and Boutin, Thibaud S and Brauch, Hiltrud and Brenner, Hermann and Bruening, Thomas and Burwinkel, Barbara and Campbell, Archie and Campbell, Harry and Chanock, Stephen J and Chapman, J. Ross and Chen, Yii-Der Ida and Chenevix-Trench, Georgia and Couch, Fergus J and Coviello, Anea D and Cox, Angela and Czene, Kamila and Darabi, Hatef and De Vivo, Immaculata and Demerath, Ellen W and Dennis, Joe and Devilee, Peter and Doerk, Thilo and dos-Santos-Silva, Isabel and Dunning, Alison M and Eicher, John D and Fasching, Peter A and Faul, Jessica D and Figueroa, Jonine and Flesch-Janys, Dieter and Gandin, Ilaria and Garcia, Melissa E and Garcia-Closas, Montserrat and Giles, Graham G and Girotto, Giorgia G and Goldberg, Mark S and Gonzalez-Neira, Anna and Goodarzi, Mark O and Grove, Megan L and Gudbjartsson, Daniel F and Guenel, Pascal and Guo, Xiuqing and Haiman, Christopher A and Hall, Per and Hamann, Ute and ... and LifeLines Cohort Study and EPIC-InterAct Consortium and The PRACTICAL Consortium and AOCS Investigators and Generation Scotland and kConFab Investigators
Nature Genetics, ISSN 1061-4036, 11/2015, Volume 47, Issue 11, pp. 1294 - 303
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 03/2019, Volume 27, Issue 3, pp. 466 - 474
Hereditary hearing loss (HHL) is an extremely heterogeneous disorder with autosomal dominant, recessive, and X-linked forms. Here, we described an Italian... 
COMPLEX | BETA GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | MUTATION | GENETICS & HEREDITY | HUMAN Y-CHROMOSOME | RESISTANCE | DEAFNESS | THYROID-HORMONE RECEPTOR | PROTEINS | ORGAN | Hearing | Clonal deletion | Pedigree | Protein folding | Hyperplasia | Cochlea | Heredity | Gene deletion | Hearing impairment | Prostate | Hearing loss | Hereditary diseases | Index Medicus
Journal Article
Nature Communications, ISSN 2041-1723, 12/2017, Volume 8, Issue 1, pp. 2176 - 15
Microbial nucleic acid recognition serves as the major stimulus to an antiviral response, implying a requirement to limit the misrepresentation of self nucleic... 
AICARDI-GOUTIERES-SYNDROME | SYSTEMIC-LUPUS-ERYTHEMATOSUS | ACTIVE ENZYME | MAMMALIAN DNA | MULTIDISCIPLINARY SCIENCES | ALPHA | INFLAMMATORY DISEASE | DEOXYRIBONUCLEASE-II | MUTATIONS | EXONUCLEASE TREX1 | NUCLEIC-ACIDS | Endodeoxyribonucleases - immunology | Phosphorylation | Deoxyribonucleases - deficiency | Humans | RNA, Messenger - analysis | Male | Gene Expression Profiling | Erythroblasts - immunology | Signal Transduction - immunology | Deoxyribonucleases - immunology | STAT1 Transcription Factor - metabolism | Female | Endodeoxyribonucleases - deficiency | Child | STAT3 Transcription Factor - metabolism | Interferon-alpha - metabolism | Antiviral Agents - pharmacology | Hereditary Autoinflammatory Diseases - blood | Hereditary Autoinflammatory Diseases - enzymology | Hereditary Autoinflammatory Diseases - immunology | Interferon-alpha - immunology | Up-Regulation - drug effects | Deoxyribonucleases - genetics | Hematopoiesis - immunology | Endodeoxyribonucleases - genetics | Sequence Analysis, RNA | Interferon-alpha - blood | Adolescent | Mutation | Hereditary Autoinflammatory Diseases - genetics | Glomerulonephritis | Neonates | Deformation | Liver | Antibodies | α-Interferon | Microorganisms | Lymphocytes | Hematopoiesis | Peripheral blood | Anti-DNA antibodies | Stat1 protein | Enzyme-linked immunosorbent assay | Deoxyribonucleic acid--DNA | Deoxyribonuclease | Hematology | Anemia | Stat3 protein | Nucleic acids | Ribonucleic acid--RNA | Hemopoiesis | Signaling | Monocytes | Erythroblasts | Fibrosis | Interferon | Endonuclease | Index Medicus | Life Sciences | Immunology
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2013, Volume 8, Issue 12, pp. e80323 - e80323
Journal Article
by Joshi, Peter and Esko, Tõnu and Mattsson, Hannele and Eklund, Niina and Gandin, Ilaria and Nutile, T and Jackson, Anne and Schurmann, Claudia and Smith, G.D and Zhang, Weihua and Okada, Yukinori and Stancáková, Alena and Faul, Jessica D and Zhao, Wei and Bartz, Traci M and Concas, M.P and Franceschini, Nora and Enroth, Stefan and Vitart, Veronique and Trompet, Stella and Guo, Xiuqing and Chasman, Daniel and O'Connel, Jeffrey R and Corre, Tanguy and Nongmaithem, Suraj S and Chen, Yuning and Mangino, Massimo and Ruggiero, D and Traglia, Michela and Farmaki, Aliki-Eleni and Kacprowski, Tim and Bjonnes, Anew and Spek, Ashley and Wu, Ying and Giri, Anil K and Yanek, Lisa and Wang, Lihua and Hofer, Edith and Rietveld, Niels and McLeod, Olga and Cornelis, Marilyn and Pattaro, Cristian and Verweij, Niek and Baumbach, Clemens and Abdellaoui, Abdel and Warren, Helen and Vuckovic, gana and Mei, Hao and Bouchard, Claude and Perry, John and Cappellani, Stefania and Mirza, Saira and Benton, Miles C and Broeckel, Ulrich and Medland, Sarah Elizabeth and Lind, Penelope and Malerba, Giovanni and ng, Alexander and Yengo, Loic and Bielak, Lawrence F and Zhi, Degui and Most, Peter and Shriner, Daniel and Mägi, Reedik and Hemani, G and Karaderi, Tugce and Wang, Zhaoming and Liu, Tian and Demuth, Ilja and Zhao, Jing Hua and Meng, Weihua and Lataniotis, Lazaros and Van Der Laan, Sander W and Bradfield, Jonathan and Wood, Anew and Bonnefond, Amélie and Ahluwalia, Tarunveer Singh and Hall, Leanne M and Salvi, Erika and Yazar, Seyhan and Carstensen, Lisbeth and De Haan, Hugoline G and Abney, Mark and Afzal, Uzma and Allison, Matthew and Amin, Najaf and Asselbergs, Folkert W and Bakker, Stephan and Barr, Graham and Baumeister, Sebastian and Benjamin, Daniel J and Bergmann, Sven and Boerwinkle, Eric and Bottinger, Erwin P and Campbell, Archie and Chakravarti, Aravinda and Chan, Yingleong and Chanock, Stephen and Chen, Constance and Chen, Y.-D. Ida and ... and BioBank Japan Project and The BioBank Japan Project and Science for Life Laboratory, SciLifeLab and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Medicinsk genetik och genomik and Kardiovaskulär epidemiologi and Uppsala universitet and Institutionen för medicinska vetenskaper and Molekylär epidemiologi
Nature: international weekly journal of science, ISSN 0028-0836, 07/2015, Volume 523, Issue 7561, pp. 459 - 462
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2019, Volume 27, Issue 1, pp. 70 - 79
Hereditary hearing loss (HHL) and age-related hearing loss (ARHL) are two major sensory diseases affecting millions of people worldwide. Despite many efforts,... 
MUTATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | GENOME-WIDE ASSOCIATION | Hearing | Molecular modelling | Statistical analysis | Next-generation sequencing | Isoforms | Insertion | Population studies | Hearing impairment | Risk factors | Age | Inner ear | Hearing loss | Index Medicus
Journal Article