PhenoScanner: a database of human genotype-phenotype associations
Staley, James R, Blackshaw, James, Kamat, Mihir A, Ellis, Steve, Surendran, Praveen, Sun, Benjamin B, Paul, Dirk S, Freitag, Daniel, Burgess, Stephen, Danesh, John, Young, Robin, Butterworth, Adam S
Published in Bioinformatics (Oxford, England) (15.10.2016)
Published in Bioinformatics (Oxford, England) (15.10.2016)
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Journal Article
ProGeM: a framework for the prioritization of candidate causal genes at molecular quantitative trait loci
Stacey, David, Fauman, Eric B, Ziemek, Daniel, Sun, Benjamin B, Harshfield, Eric L, Wood, Angela M, Butterworth, Adam S, Suhre, Karsten, Paul, Dirk S
Published in Nucleic acids research (10.01.2019)
Published in Nucleic acids research (10.01.2019)
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Journal Article
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
Albers, Cornelis A, Paul, Dirk S, Schulze, Harald, Freson, Kathleen, Stephens, Jonathan C, Smethurst, Peter A, Jolley, Jennifer D, Cvejic, Ana, Kostadima, Myrto, Bertone, Paul, Breuning, Martijn H, Debili, Najet, Deloukas, Panos, Favier, Rémi, Fiedler, Janine, Hobbs, Catherine M, Huang, Ni, Hurles, Matthew E, Kiddle, Graham, Krapels, Ingrid, Nurden, Paquita, Ruivenkamp, Claudia A L, Sambrook, Jennifer G, Smith, Kenneth, Stemple, Derek L, Strauss, Gabriele, Thys, Chantal, van Geet, Chris, Newbury-Ecob, Ruth, Ouwehand, Willem H, Ghevaert, Cedric
Published in Nature genetics (01.04.2012)
Published in Nature genetics (01.04.2012)
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Journal Article
Genetic effects on promoter usage are highly context-specific and contribute to complex traits
Alasoo, Kaur, Rodrigues, Julia, Danesh, John, Freitag, Daniel F, Paul, Dirk S, Gaffney, Daniel J
Published in eLife (08.01.2019)
Published in eLife (08.01.2019)
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Journal Article
Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes
Maher, Geoffrey J, Ralph, Hannah K, Ding, Zhihao, Koelling, Nils, Mlcochova, Hana, Giannoulatou, Eleni, Dhami, Pawan, Paul, Dirk S, Stricker, Stefan H, Beck, Stephan, McVean, Gilean, Wilkie, Andrew O M, Goriely, Anne
Published in Genome research (01.12.2018)
Published in Genome research (01.12.2018)
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Tensorial blind source separation for improved analysis of multi-omic data
Teschendorff, Andrew E, Jing, Han, Paul, Dirk S, Virta, Joni, Nordhausen, Klaus
Published in Genome Biology (08.06.2018)
Published in Genome Biology (08.06.2018)
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Journal Article
Increased DNA methylation variability in rheumatoid arthritis-discordant monozygotic twins
Webster, Amy P, Plant, Darren, Ecker, Simone, Zufferey, Flore, Bell, Jordana T, Feber, Andrew, Paul, Dirk S, Beck, Stephan, Barton, Anne, Williams, Frances M K, Worthington, Jane
Published in Genome medicine (04.09.2018)
Published in Genome medicine (04.09.2018)
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Journal Article
Genetically personalised organ-specific metabolic models in health and disease
Foguet, Carles, Xu, Yu, Ritchie, Scott C., Lambert, Samuel A., Persyn, Elodie, Nath, Artika P., Davenport, Emma E., Roberts, David J., Paul, Dirk S., Di Angelantonio, Emanuele, Danesh, John, Butterworth, Adam S., Yau, Christopher, Inouye, Michael
Published in Nature communications (29.11.2022)
Published in Nature communications (29.11.2022)
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Journal Article
Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci
Harshfield, Eric L, Fauman, Eric B, Stacey, David, Paul, Dirk S, Ziemek, Daniel, Ong, Rachel M Y, Danesh, John, Butterworth, Adam S, Rasheed, Asif, Sattar, Taniya, Zameer-Ul-Asar, Saleem, Imran, Hina, Zoubia, Ishtiaq, Unzila, Qamar, Nadeem, Mallick, Nadeem Hayat, Yaqub, Zia, Saghir, Tahir, Rizvi, Syed Nadeem Hasan, Memon, Anis, Ishaq, Mohammad, Rasheed, Syed Zahed, Memon, Fazal-Ur-Rehman, Jalal, Anjum, Abbas, Shahid, Frossard, Philippe, Saleheen, Danish, Wood, Angela M, Griffin, Julian L, Koulman, Albert
Published in BMC medicine (10.09.2021)
Published in BMC medicine (10.09.2021)
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Neutrophil-mediated IL-6 receptor trans-signaling and the risk of chronic obstructive pulmonary disease and asthma
Farahi, Neda, Paige, Ellie, Balla, Jozef, Prudence, Emily, Ferreira, Ricardo C, Southwood, Mark, Appleby, Sarah L, Bakke, Per, Gulsvik, Amund, Litonjua, Augusto A, Sparrow, David, Silverman, Edwin K, Cho, Michael H, Danesh, John, Paul, Dirk S, Freitag, Daniel F, Chilvers, Edwin R
Published in Human molecular genetics (15.04.2017)
Published in Human molecular genetics (15.04.2017)
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Journal Article
Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference
Corbin, Laura J., Tan, Vanessa Y., Hughes, David A., Wade, Kaitlin H., Paul, Dirk S., Tansey, Katherine E., Butcher, Frances, Dudbridge, Frank, Howson, Joanna M., Jallow, Momodou W., John, Catherine, Kingston, Nathalie, Lindgren, Cecilia M., O’Donavan, Michael, O’Rahilly, Stephen, Owen, Michael J., Palmer, Colin N. A., Pearson, Ewan R., Scott, Robert A., van Heel, David A., Whittaker, John, Frayling, Tim, Tobin, Martin D., Wain, Louise V., Smith, George Davey, Evans, David M., Karpe, Fredrik, McCarthy, Mark I., Danesh, John, Franks, Paul W., Timpson, Nicholas J.
Published in Nature communications (19.02.2018)
Published in Nature communications (19.02.2018)
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Journal Article
Donor whole blood DNA methylation is not a strong predictor of acute graft versus host disease in unrelated donor allogeneic haematopoietic cell transplantation
Webster, Amy P, Ecker, Simone, Moghul, Ismail, Liu, Xiaohong, Dhami, Pawan, Marzi, Sarah, Paul, Dirk S, Kuxhausen, Michelle, Lee, Stephanie J, Spellman, Stephen R, Wang, Tao, Feber, Andrew, Rakyan, Vardhman, Peggs, Karl S, Beck, Stephan
Published in Frontiers in genetics (03.04.2024)
Published in Frontiers in genetics (03.04.2024)
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Journal Article
Integrated analyses of growth differentiation factor-15 concentration and cardiometabolic diseases in humans
Lemmelä, Susanna, Wigmore, Eleanor M, Benner, Christian, Havulinna, Aki S, Ong, Rachel M Y, Kempf, Tibor, Wollert, Kai C, Blankenberg, Stefan, Zeller, Tanja, Peters, James E, Salomaa, Veikko, Fritsch, Maria, March, Ruth, Palotie, Aarno, Daly, Mark, Butterworth, Adam S, Kinnunen, Mervi, Paul, Dirk S, Matakidou, Athena
Published in eLife (02.08.2022)
Published in eLife (02.08.2022)
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Journal Article
Correction to: Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome
Cheung, Warren A, Shao, Xiaojian, Morin, Andréanne, Siroux, Valérie, Kwan, Tony, Ge, Bing, Aïssi, Dylan, Chen, Lu, Vasquez, Louella, Allum, Fiona, Guénard, Frédéric, Bouzigon, Emmanuelle, Simon, Marie-Michelle, Boulier, Elodie, Redensek, Adriana, Watt, Stephen, Datta, Avik, Clarke, Laura, Flicek, Paul, Mead, Daniel, Paul, Dirk S, Beck, Stephan, Bourque, Guillaume, Lathrop, Mark, Tchernof, André, Vohl, Marie-Claude, Demenais, Florence, Pin, Isabelle, Downes, Kate, Stunnenberg, Hendrick G, Soranzo, Nicole, Pastinen, Tomi, Grundberg, Elin
Published in Genome Biology (07.05.2019)
Published in Genome Biology (07.05.2019)
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Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci
Paul, Dirk S, Albers, Cornelis A, Rendon, Augusto, Voss, Katrin, Stephens, Jonathan, van der Harst, Pim, Chambers, John C, Soranzo, Nicole, Ouwehand, Willem H, Deloukas, Panos
Published in Genome research (01.07.2013)
Published in Genome research (01.07.2013)
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Journal Article
Interleukin-6 Receptor Signaling and Abdominal Aortic Aneurysm Growth Rates
Paige, Ellie, Clément, Marc, Lareyre, Fabien, Sweeting, Michael, Raffort, Juliette, Grenier, Céline, Finigan, Alison, Harrison, James, Peters, James E, Sun, Benjamin B, Butterworth, Adam S, Harrison, Seamus C, Bown, Matthew J, Lindholt, Jes S, Badger, Stephen A, Kullo, Iftikhar J, Powell, Janet, Norman, Paul E, Scott, D Julian A, Bailey, Marc A, Rose-John, Stefan, Danesh, John, Freitag, Daniel F, Paul, Dirk S, Mallat, Ziad
Published in Circulation. Genomic and precision medicine (01.02.2019)
Published in Circulation. Genomic and precision medicine (01.02.2019)
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A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site
Nürnberg, Sylvia T., Rendon, Augusto, Smethurst, Peter A., Paul, Dirk S., Voss, Katrin, Thon, Jonathan N., Lloyd-Jones, Heather, Sambrook, Jennifer G., Tijssen, Marloes R., Italiano, Joseph E., Deloukas, Panos, Gottgens, Berthold, Soranzo, Nicole, Ouwehand, Willem H.
Published in Blood (06.12.2012)
Published in Blood (06.12.2012)
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Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits
Paul, Dirk S, Nisbet, James P, Yang, Tsun-Po, Meacham, Stuart, Rendon, Augusto, Hautaviita, Katta, Tallila, Jonna, White, Jacqui, Tijssen, Marloes R, Sivapalaratnam, Suthesh, Basart, Hanneke, Trip, Mieke D, Göttgens, Berthold, Soranzo, Nicole, Ouwehand, Willem H, Deloukas, Panos
Published in PLoS genetics (01.06.2011)
Published in PLoS genetics (01.06.2011)
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eFORGE: A Tool for Identifying Cell Type-Specific Signal in Epigenomic Data
Breeze, Charles E., Paul, Dirk S., van Dongen, Jenny, Butcher, Lee M., Ambrose, John C., Barrett, James E., Lowe, Robert, Rakyan, Vardhman K., Iotchkova, Valentina, Frontini, Mattia, Downes, Kate, Ouwehand, Willem H., Laperle, Jonathan, Jacques, Pierre-Étienne, Bourque, Guillaume, Bergmann, Anke K., Siebert, Reiner, Vellenga, Edo, Saeed, Sadia, Matarese, Filomena, Martens, Joost H.A., Stunnenberg, Hendrik G., Teschendorff, Andrew E., Herrero, Javier, Birney, Ewan, Dunham, Ian, Beck, Stephan
Published in Cell reports (Cambridge) (15.11.2016)
Published in Cell reports (Cambridge) (15.11.2016)
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