Search Results - "Paul, Dirk S."

PhenoScanner: a database of human genotype-phenotype associations by 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

“…PhenoScanner is a curated database of publicly available results from large-scale genetic association studies. This tool aims to facilitate 'phenome scans',…”
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ProGeM: a framework for the prioritization of candidate causal genes at molecular quantitative trait loci by Stacey, David, Fauman, Eric B, Ziemek, Daniel, Sun, Benjamin B, Harshfield, Eric L, Wood, Angela M, Butterworth, Adam S, Suhre, Karsten, Paul, Dirk S

“…Abstract Quantitative trait locus (QTL) mapping of molecular phenotypes such as metabolites, lipids and proteins through genome-wide association studies…”
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Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome by 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

“…Cornelis Albers, Cedric Ghevaert and colleagues report that a majority of thrombocytopenia with absent radii (TAR) syndrome cases are caused by compound…”
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Genetic effects on promoter usage are highly context-specific and contribute to complex traits by Alasoo, Kaur, Rodrigues, Julia, Danesh, John, Freitag, Daniel F, Paul, Dirk S, Gaffney, Daniel J

“…Genetic variants regulating RNA splicing and transcript usage have been implicated in both common and rare diseases. Although transcript usage quantitative…”
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Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes by 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

“…Mosaic mutations present in the germline have important implications for reproductive risk and disease transmission. We previously demonstrated a phenomenon…”
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Functional interpretation of non-coding sequence variation: Concepts and challenges by Paul, Dirk S., Soranzo, Nicole, Beck, Stephan

“…Understanding the functional mechanisms underlying genetic signals associated with complex traits and common diseases, such as cancer, diabetes and Alzheimer's…”
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Tensorial blind source separation for improved analysis of multi-omic data by Teschendorff, Andrew E, Jing, Han, Paul, Dirk S, Virta, Joni, Nordhausen, Klaus

“…There is an increased need for integrative analyses of multi-omic data. We present and benchmark a novel tensorial independent component analysis (tICA)…”
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Increased DNA methylation variability in rheumatoid arthritis-discordant monozygotic twins by 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

“…Rheumatoid arthritis is a common autoimmune disorder influenced by both genetic and environmental factors. Epigenome-wide association studies can identify…”
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Genetically personalised organ-specific metabolic models in health and disease by 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

“…Understanding how genetic variants influence disease risk and complex traits (variant-to-function) is one of the major challenges in human genetics. Here we…”
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Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci by 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

“…Genetic, lifestyle, and environmental factors can lead to perturbations in circulating lipid levels and increase the risk of cardiovascular and metabolic…”
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Neutrophil-mediated IL-6 receptor trans-signaling and the risk of chronic obstructive pulmonary disease and asthma by 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

“…The Asp358Ala variant in the interleukin-6 receptor (IL-6R) gene has been implicated in asthma, autoimmune and cardiovascular disorders, but its role in other…”
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Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference by 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.

“…Detailed phenotyping is required to deepen our understanding of the biological mechanisms behind genetic associations. In addition, the impact of potentially…”
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Donor whole blood DNA methylation is not a strong predictor of acute graft versus host disease in unrelated donor allogeneic haematopoietic cell transplantation by 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

“…Allogeneic hematopoietic cell transplantation (HCT) is used to treat many blood-based disorders and malignancies, however it can also result in serious adverse…”
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Integrated analyses of growth differentiation factor-15 concentration and cardiometabolic diseases in humans by 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

“…Growth differentiation factor-15 (GDF15) is a stress response cytokine that is elevated in several cardiometabolic diseases and has attracted interest as a…”
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Correction to: Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome by 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

“…Following publication of the original article [1], the authors reported an error in Additional file 1…”
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Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci by 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

“…Nearly three-quarters of the 143 genetic signals associated with platelet and erythrocyte phenotypes identified by meta-analyses of genome-wide association…”
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Interleukin-6 Receptor Signaling and Abdominal Aortic Aneurysm Growth Rates by 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

“…The Asp358Ala variant (rs2228145; A>C) in the IL (interleukin)-6 receptor ( IL6R) gene has been implicated in the development of abdominal aortic aneurysms…”
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A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site by 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.

“…We recently identified 68 genomic loci where common sequence variants are associated with platelet count and volume. Platelets are formed in the bone marrow by…”
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Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits by 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

“…Turning genetic discoveries identified in genome-wide association (GWA) studies into biological mechanisms is an important challenge in human genetics. Many…”
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eFORGE: A Tool for Identifying Cell Type-Specific Signal in Epigenomic Data by 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

“…Epigenome-wide association studies (EWAS) provide an alternative approach for studying human disease through consideration of non-genetic variants such as…”
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