Search Results - "Collins, Janine H"

A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology by Akbari, Parsa, Vuckovic, Dragana, Stefanucci, Luca, Jiang, Tao, Kundu, Kousik, Kreuzhuber, Roman, Bao, Erik L., Collins, Janine H., Downes, Kate, Grassi, Luigi, Guerrero, Jose A., Kaptoge, Stephen, Knight, Julian C., Meacham, Stuart, Sambrook, Jennifer, Seyres, Denis, Stegle, Oliver, Verboon, Jeffrey M., Walter, Klaudia, Watkins, Nicholas A., Danesh, John, Roberts, David J., Di Angelantonio, Emanuele, Sankaran, Vijay G., Frontini, Mattia, Burgess, Stephen, Kuijpers, Taco, Peters, James E., Butterworth, Adam S., Ouwehand, Willem H., Soranzo, Nicole, Astle, William J.

“…Blood cells contain functionally important intracellular structures, such as granules, critical to immunity and thrombosis. Quantitative variation in these…”
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Ontologizing health systems data at scale: making translational discovery a reality by Callahan, Tiffany J., Stefanski, Adrianne L., Wyrwa, Jordan M., Zeng, Chenjie, Ostropolets, Anna, Banda, Juan M., Baumgartner, William A., Boyce, Richard D., Casiraghi, Elena, Coleman, Ben D., Collins, Janine H., Deakyne Davies, Sara J., Feinstein, James A., Lin, Asiyah Y., Martin, Blake, Matentzoglu, Nicolas A., Meeker, Daniella, Reese, Justin, Sinclair, Jessica, Taneja, Sanya B., Trinkley, Katy E., Vasilevsky, Nicole A., Williams, Andrew E., Zhang, Xingmin A., Denny, Joshua C., Ryan, Patrick B., Hripcsak, George, Bennett, Tellen D., Haendel, Melissa A., Robinson, Peter N., Hunter, Lawrence E., Kahn, Michael G.

“…Common data models solve many challenges of standardizing electronic health record (EHR) data but are unable to semantically integrate all of the resources…”
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Immune dysregulation, autoimmunity, and granule defects in gray platelet syndrome by Collins, Janine H., Mayer, Louisa, Guerrero Lopez, Jose Antonio

“…Since the description of the first case with gray platelet syndrome (GPS) in 1971, this rare inherited platelet disorder has been the focus of extensive…”
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Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome by Sims, Matthew C., Mayer, Louisa, Collins, Janine H., Bariana, Tadbir K., Megy, Karyn, Lavenu-Bombled, Cecile, Seyres, Denis, Kollipara, Laxmikanth, Burden, Frances S., Greene, Daniel, Lee, Dave, Rodriguez-Romera, Antonio, Alessi, Marie-Christine, Astle, William J., Bahou, Wadie F., Bury, Loredana, Chalmers, Elizabeth, Da Silva, Rachael, De Candia, Erica, Deevi, Sri V.V., Farrow, Samantha, Gomez, Keith, Grassi, Luigi, Greinacher, Andreas, Gresele, Paolo, Hart, Dan, Hurtaud, Marie-Françoise, Kelly, Anne M., Kerr, Ron, Le Quellec, Sandra, Leblanc, Thierry, Leinøe, Eva B., Mapeta, Rutendo, McKinney, Harriet, Michelson, Alan D., Morais, Sara, Nugent, Diane, Papadia, Sofia, Park, Soo J., Pasi, John, Podda, Gian Marco, Poon, Man-Chiu, Reed, Rachel, Sekhar, Mallika, Shalev, Hanna, Sivapalaratnam, Suthesh, Steinberg-Shemer, Orna, Stephens, Jonathan C., Tait, Robert C., Turro, Ernest, Wu, John K.M., Zieger, Barbara, Kuijpers, Taco W., Whetton, Anthony D., Sickmann, Albert, Freson, Kathleen, Downes, Kate, Erber, Wendy N., Frontini, Mattia, Nurden, Paquita, Ouwehand, Willem H., Favier, Remi, Guerrero, Jose A.

“…Gray platelet syndrome (GPS) is a rare recessive disorder caused by biallelic variants in NBEAL2 and characterized by bleeding symptoms, the absence of…”
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The common, VTE-protective, G haplotype of F5 increases factor V-short, TFPI function, and risk of bleeding by Sims, Matthew Christopher, Gierula, Magdalena, Stephens, Jonathan C, Tokolyi, Alex, Stefanucci, Luca, Persyn, Elodie, Sun, Luanluan, Collins, Janine H, Davenport, Emma, Di Angelantonio, Emanuele, Downes, Kate, Inouye, Michael, Paul, Dirk S, Thomas, William, Tolios, Alexander, BioResource, Nihr, Ouwehand, Willem H, Gleadall, Nicholas S, Crawley, James T B, Butterworth, Adam S, Frontini, Mattia, Ahnstrom, Josefin

“…The G haplotype is a group of co-inherited single nucleotide variants in the F5 gene that reduce venous thromboembolism (VTE) risk. Even though seven percent…”
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Ontologizing Health Systems Data at Scale: Making Translational Discovery a Reality by Callahan, Tiffany J, Stefanski, Adrianne L, Wyrwa, Jordan M, Zeng, Chenjie, Ostropolets, Anna, Banda, Juan M, BaumgartnerJr, William A, Boyce, Richard D, Casiraghi, Elena, Coleman, Ben D, Collins, Janine H, Deakyne-Davies, Sara J, Feinstein, James A, Haendel, Melissa A, Lin, Asiyah Y, Martin, Blake, Matentzoglu, Nicolas A, Meeker, Daniella, Reese, Justin, Sinclair, Jessica, Taneja, Sanya B, Trinkley, Katy E, Vasilevsky, Nicole A, Williams, Andrew, Zhang, Xingman A, Denny, Joshua C, Robinson, Peter N, Ryan, Patrick, Hripcsak, George, Bennett, Tellen D, Hunter, Lawrence E, Kahn, Michael G

“…Background: Common data models solve many challenges of standardizing electronic health record (EHR) data, but are unable to semantically integrate all the…”
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