The common VTE-protective G haplotype of F5 increases factor V-short, TFPI function, and risk of bleeding

Authors: Ashford, Sofie, Khadake, Jyoti, Linger, Rachel, Roberts, Paul, Stark, Hannah, Williams, Hannah, Sims, Matthew C. ^{1, 2, 3, 4, ∗}, Gierula, Magdalena ⁵, Stephens, Jonathan C. ^{1, 6}, Tokolyi, Alex ⁷, Stefanucci, Luca ^{1, 2, 8}, Persyn, Elodie ^{9, 10, 11}, Sun, Luanluan ⁹, Collins, Janine H. ^{1, 2, 12}, Davenport, Emma E. ⁷, Di Angelantonio, Emanuele ^{8, 9, 10, 13, 14, 15}, Downes, Kate ^{1, 2, 16}, Inouye, Michael ^{8, 9, 10, 11, 17}, Paul, Dirk S. ^{9, 10, 18}, Thomas, Will ¹⁹, Tolios, Alexander ²⁰, Ouwehand, Willem H. ^{1, 2, 19, 21}, Gleadall, Nicholas S. ^{1, 2}, Crawley, James T. B. ⁵, Butterworth, Adam S. ^{8, 9}, Frontini, Mattia ^{1, 2, 8, 22}, Ahnström, Josefin ^{5, ∗∗}

Source: In Blood Advances 14 January 2025 9(1):132-142

Ontologizing Health Systems Data at Scale: Making Translational Discovery a Reality

Authors: Callahan, Tiffany J., Stefanski, Adrianne L., Wyrwa, Jordan M., Zeng, Chenjie, Ostropolets, Anna, Banda, Juan M., Baumgartner Jr., 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.

Subject Terms: Computer Science - Databases, Computer Science - Artificial Intelligence, J.3

Access URL: http://arxiv.org/abs/2209.04732

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

Authors: Stefanucci, Luca, Collins, Janine, Sims, Matthew C., Barrio-Hernandez, Inigo, Sun, Luanluan, Burren, Oliver S., Perfetto, Livia, Bender, Isobel, Callahan, Tiffany J., Fleming, Kathryn, Guerrero, Jose A., Hermjakob, Henning, Martin, Maria J., Stephenson, James, Paneerselvam, Kalpana, Petrovski, Slavé, Porras, Pablo, Robinson, Peter N., Wang, Quanli, Watkins, Xavier, Frontini, Mattia, Laskowski, Roman A., Beltrao, Pedro, Di Angelantonio, Emanuele, Gomez, Keith, Laffan, Mike, Ouwehand, Willem H., Mumford, Andrew D., Freson, Kathleen, Carss, Keren, Downes, Kate, Gleadall, Nick, Megy, Karyn, Bruford, Elspeth, Vuckovic, Dragana

Source: In Blood 14 December 2023 142(24):2055-2068

Immune dysregulation, autoimmunity, and granule defects in gray platelet syndrome

Authors: Collins, Janine H., Mayer, Louisa, Guerrero Lopez, Jose Antonio

Source: In Journal of Thrombosis and Haemostasis June 2023 21(6):1409-1419

The common VTE-protective G haplotype of F5increases factor V-short, TFPI function, and risk of bleeding

Authors: Sims, Matthew C., Gierula, Magdalena, Stephens, Jonathan C., Tokolyi, Alex, Stefanucci, Luca, Persyn, Elodie, Sun, Luanluan, Collins, Janine H., Davenport, Emma E., Di Angelantonio, Emanuele, Downes, Kate, Inouye, Michael, Paul, Dirk S., Thomas, Will, Tolios, Alexander, Ouwehand, Willem H., Gleadall, Nicholas S., Crawley, James T. B., Butterworth, Adam S., Frontini, Mattia, Ahnström, Josefin

Source: Blood Advances; January 2025, Vol. 9 Issue: 1 p132-142, 11p

Advances in understanding the pathogenesis of hereditary macrothrombocytopenia

Authors: Collins, Janine, Astle, William J., Megy, Karyn, Mumford, Andrew D., Vuckovic, Dragana

Source: British journal of haematology. 195(1):25-45

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100132550055.0x000001&indx=1&recIds=ETOCvdc_100132550055.0x000001

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Authors: Sims, Matthew C. ^{1, 2, 3, *}, Mayer, Louisa ^{1, 2, *}, Collins, Janine H. ^{1, 1, 2, 4, *}, Bariana, Tadbir K. ^{1, 4, 5, *}, Megy, Karyn ^{1, 2, 6}, Lavenu-Bombled, Cecile ⁷, Seyres, Denis ^{1, 2, 6}, Kollipara, Laxmikanth ⁸, Burden, Frances S. ^{1, 2, 6}, Greene, Daniel ^{1, 6, 9}, Lee, Dave ¹⁰, Rodriguez-Romera, Antonio ^{1, 2}, Alessi, Marie-Christine ¹¹, Astle, William J. ^{2, 9}, Bahou, Wadie F. ¹², Bury, Loredana ¹³, Chalmers, Elizabeth ¹⁴, Da Silva, Rachael ¹⁰, De Candia, Erica ^{15, 16}, Deevi, Sri V.V. ^{1, 6}, Farrow, Samantha ^{1, 2, 6}, Gomez, Keith ⁵, Grassi, Luigi ^{1, 2, 6}, Greinacher, Andreas ¹⁷, Gresele, Paolo ¹³, Hart, Dan ¹⁸, Hurtaud, Marie-Françoise ⁷, Kelly, Anne M. ¹, Kerr, Ron ¹⁹, Le Quellec, Sandra ²⁰, Leblanc, Thierry ⁷, Leinøe, Eva B. ²¹, Mapeta, Rutendo ^{1, 6}, McKinney, Harriet ^{1, 2, 6}, Michelson, Alan D. ²², Morais, Sara ^{23, 24}, Nugent, Diane ²⁵, Papadia, Sofia ^{1, 2, 6}, Park, Soo J. ²⁶, Pasi, John ¹⁸, Podda, Gian Marco ²⁷, Poon, Man-Chiu ²⁸, Reed, Rachel ¹⁰, Sekhar, Mallika ²⁹, Shalev, Hanna ³⁰, Sivapalaratnam, Suthesh ^{1, 4}, Steinberg-Shemer, Orna ^{31, 32}, Stephens, Jonathan C. ^{1, 6}, Tait, Robert C. ³³, Turro, Ernest ^{1, 2, 6, 9}, Wu, John K.M. ³⁴, Zieger, Barbara ³⁵, Kuijpers, Taco W. ^{36, 37}, Whetton, Anthony D. ¹⁰, Sickmann, Albert ^{8, 38, 39}, Freson, Kathleen ⁴⁰, Downes, Kate ^{1, 6}, Erber, Wendy N. ^{41, 42}, Frontini, Mattia ^{1, 2, 43}, Nurden, Paquita ⁴⁴, Ouwehand, Willem H. ^{1, 2, 6, 45}, Favier, Remi ^{7, 46}, Guerrero, Jose A. ^{2, 1, 2}

Source: In Blood 22 October 2020 136(17):1956-1967

Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia

Authors: Cornish, Naomi ^*, Aungraheeta, M. Riyaad, FitzGibbon, Lucy, Burley, Kate, Alibhai, Dominic, Collins, Janine, Greene, Daniel, Downes, Kate, Westbury, Sarah K., Turro, Ernest, Mumford, Andrew D.

Source: In Blood Advances 10 March 2020 4(5):920-924

Nbeal2 interacts with Dock7, Sec16a, and Vac14

Authors: Mayer, Louisa, Jasztal, Maria, Pardo, Mercedes, Aguera de Haro, Salvadora, Collins, Janine, Bariana, Tadbir K., Smethurst, Peter A., Grassi, Luigi, Petersen, Romina, Nurden, Paquita, Favier, Rémi, Yu, Lu, Meacham, Stuart, Astle, William J., Choudhary, Jyoti, Yue, Wyatt W., Ouwehand, Willem H., Guerrero, Jose A.

Source: In Blood 1 March 2018 131(9):1000-1011

A Web-Based Survey of Patients Dispensed Viagra Connect^® Behind the Counter in UK: An Evaluation of Effectiveness of Additional Risk Minimization Measures.

Authors: Li, Jim Z, Lem, Joanna Asia, Younus, Muhammad, Donde, Shaantanu S, Collins, Janine, Zou, Kelly H

Source: Patient Preference & Adherence; Jun2024, Vol. 18, p1345-1358, 14p

Subject Terms: INTERNET surveys, PATIENT surveys, SILDENAFIL, PHARMACISTS, IMPOTENCE

Geographic Terms: UNITED Kingdom

A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.

Authors: 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.

Source: Nature Communications; 8/18/2023, Vol. 14 Issue 1, p1-19, 19p

Subject Terms: GENOME-wide association studies, CELL morphology, ETIOLOGY of diseases, BLOOD cells, MORPHOLOGY, NATALIZUMAB

Ontologizing health systems data at scale: making translational discovery a reality.

Authors: Callahan, Tiffany J., Stefanski, Adrianne L., Wyrwa, Jordan M., Zeng, Chenjie, Ostropolets, Anna, Banda, Juan M., Baumgartner Jr., 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.

Source: NPJ Digital Medicine; 5/19/2023, Vol. 6 Issue 1, p1-18, 18p

Subject Terms: SEMANTICS, HOSPITALS, CLINICAL pathology, STATISTICS, INFERENTIAL statistics, MEDICAL information storage & retrieval systems, RESEARCH evaluation, MANAGEMENT of medical records, IDENTIFICATION, METADATA, GENETIC testing, DISEASES, PATIENTS, CASE-control method, MANN Whitney U Test, COMPARATIVE studies, MEDICAL subject headings, VOCABULARY, DESCRIPTIVE statistics, DRUGS, CHI-squared test, ONTOLOGIES (Information retrieval), ELECTRONIC health records, MEDICAL practice, MEDICAL informatics, SYSTEMATIZED Nomenclature of Medicine, DATA analysis, DATA analysis software, ALGORITHMS, PHENOTYPES, RARE diseases, CONCEPTS

Controlled drug delivery systems providing variable release rates

A web-based survey of UK pharmacists to assess the effectiveness of Viagra Connect^® additional risk minimisation measures.

Authors: Lem, Joanna, Collins, Janine, Maguire, Terry, Sobel, Rachel E.

Source: International Journal of Clinical Pharmacy; Jun2022, Vol. 44 Issue 3, p608-618, 11p

Subject Terms: SILDENAFIL, PHARMACISTS, INTERNET surveys, PHARMACY, DESCRIPTIVE statistics

Geographic Terms: UNITED Kingdom

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Authors: Aitman, Timothy, Bennett, David, Caulfield, Mark, Chinnery, Patrick, Gale, Daniel, Koziell, Ania, Kuijpers, Taco W., Laffan, Michael A., Maher, Eamonn, Markus, Hugh S., Morrell, Nicholas W., Ouwehand, Willem H., Perry, David J., Raymond, F. Lucy, Roberts, Irene, Smith, Kenneth G.C., Thrasher, Adrian, Watkins, Hugh, Williamson, Catherine, Woods, Geoffrey, Ashford, Sofie, Bradley, John R., Fletcher, Debra, Hammerton, Tracey, James, Roger, Kingston, Nathalie, Penkett, Christopher J., Stirrups, Kathleen, Veltman, Marijke, Young, Tim, Brown, Matthew, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Dolling, Helen, Erwood, Marie, Frary, Amy, Linger, Rachel, Martin, Jennifer M., Papadia, Sofia, Rehnstrom, Karola, Stark, Hannah, Allsup, David, Austin, Steve, Bakchoul, Tamam, Bariana, Tadbir K., Bolton-Maggs, Paula, Chalmers, Elizabeth, Collins, Janine, Collins, Peter, Erber, Wendy N., Everington, Tamara, Favier, Remi, Freson, Kathleen, Furie, Bruce, Gattens, Michael, Gebhart, Johanna, Gomez, Keith, Greene, Daniel, Greinacher, Andreas, Gresele, Paolo, Hart, Daniel, Heemskerk, Johan W.M., Henskens, Yvonne, Kazmi, Rashid, Keeling, David, Kelly, Anne M., Lambert, Michele P., Lentaigne, Claire, Liesner, Ri, Makris, Mike, Mangles, Sarah, Mathias, Mary, Millar, Carolyn M., Mumford, Andrew, Nurden, Paquita, Payne, Jeanette, Pasi, John, Peerlinck, Kathelijne, Revel-Vilk, Shoshana, Richards, Michael, Rondina, Matthew, Roughley, Catherine, Schulman, Sol, Schulze, Harald, Scully, Marie, Sivapalaratnam, Suthesh, Stubbs, Matthew, Tait, R. Campbell, Talks, Kate, Thachil, Jecko, Toh, Cheng-Hock, Turro, Ernest, Van Geet, Chris, De Vries, Minka, Warner, Timothy Q., Watson, Henry, Westbury, Sarah, Furnell, Abigail, Mapeta, Rutendo, Rayner-Matthews, Paula, Simeoni, Ilenia, Staines, Simon, Stephens, Jonathan, Watt, Christopher, Whitehorn, Deborah, Attwood, Antony, Daugherty, Louise, Deevi, Sri V.V., Halmagyi, Csaba, Hu, Fengyuan, Matser, Vera, Meacham, Stuart, Megy, Karyn, Shamardina, Olga, Titterton, Catherine, Tuna, Salih, Yu, Ping, von Ziegenweldt, Julie, Astle, William, Bleda, Marta, Carss, Keren J., Gräf, Stefan, Haimel, Matthias, Lango-Allen, Hana, Richardson, Sylvia, Calleja, Paul, Rankin, Stuart, Turek, Wojciech, Anderson, Julie, Bryson, Christine, Carmichael, Jenny, McJannet, Coleen, Stock, Sophie, Allen, Louise, Ambegaonkar, Gautum, Armstrong, Ruth, Arno, Gavin, Bitner-Glindzicz, Maria, Brady, Angie, Canham, Natalie, Chitre, Manali, Clement, Emma, Clowes, Virginia, Deegan, Patrick, Deshpande, Charu, Doffinger, Rainer, Firth, Helen, Flinter, Frances, French, Courtney, Gardham, Alice, Ghali, Neeti, Gissen, Paul, Grozeva, Detelina, Henderson, Robert, Hensiek, Anke, Holden, Simon, Holder, Muriel, Holder, Susan, Hurst, Jane, Josifova, Dragana, Krishnakumar, Deepa, Kurian, Manju A., Lees, Melissa, MacLaren, Robert, Maw, Anna, Mehta, Sarju, Michaelides, Michel, Moore, Anthony, Murphy, Elaine, Park, Soo-Mi, Parker, Alasdair, Patch, Chris, Paterson, Joan, Rankin, Julia, Reid, Evan, Rosser, Elisabeth, Sanchis-Juan, Alba, Sandford, Richard, Santra, Saikat, Scott, Richard, Sohal, Aman, Stein, Penelope, Thomas, Ellen, Thompson, Dorothy, Tischkowitz, Marc, Vogt, Julie, Wakeling, Emma, Wassmer, Evangeline, Webster, Andrew, Ali, Sonia, Ali, Souad, Boggard, Harm J., Church, Colin, Coghlan, Gerry, Cookson, Victoria, Corris, Paul A., Creaser-Myers, Amanda, DaCosta, Rosa, Dormand, Natalie, Eyries, Mélanie, Gall, Henning, Ghataorhe, Pavandeep K., Ghio, Stefano, Ghofrani, Ardi, Gibbs, J. Simon R., Girerd, Barbara, Greenhalgh, Alan, Hadinnapola, Charaka, Houweling, Arjan C., Humbert, Marc, in’t Veld, Anna Huis, Kennedy, Fiona, Kiely, David G., Kovacs, Gabor, Lawrie, Allan, Ross, Rob V. Mackenzie, Machado, Rajiv, Masati, Larahmie, Meehan, Sharon, Moledina, Shahin, Montani, David, Othman, Shokri, Peacock, Andrew J., Pepke-Zaba, Joanna, Pollock, Val, Polwarth, Gary, Ranganathan, Lavanya, Rhodes, Christopher J., Rue-Albrecht, Kevin, Schotte, Gwen, Shipley, Debbie, Soubrier, Florent, Southgate, Laura, Scelsi, Laura, Suntharalingam, Jay, Tan, Yvonne, Toshner, Mark, Treacy, Carmen M., Trembath, Richard, Vonk Noordegraaf, Anton, Walker, Sara, Wanjiku, Ivy, Wharton, John, Wilkins, Martin, Wort, Stephen J., Yates, Katherine, Alachkar, Hana, Antrobus, Richard, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bethune, Claire, Bibi, Shahnaz, Booth, Claire, Browning, Michael, Burns, Siobhan, Chandra, Anita, Cooper, Nichola, Davies, Sophie, Devlin, Lisa, Drewe, Elizabeth, Edgar, David, Egner, William, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Harper, Lorraine, Hayman, Grant, Herwadkar, Archana, Huissoon, Aarnoud, Jolles, Stephen, Kelleher, Peter, Kumararatne, Dinakantha, Lear, Sara, Longhurst, Hilary, Lorenzo, Lorena, Maimaris, Jesmeen, Manson, Ania, McDermott, Elizabeth, Murng, Sai, Nejentsev, Sergey, Noorani, Sadia, Oksenhendler, Eric, Ponsford, Mark, Qasim, Waseem, Quinti, Isabella, Richter, Alex, Samarghitean, Crina, Sargur, Ravishankar, Savic, Sinisa, Seneviratne, Suranjith, Sewell, Carrock, Staples, Emily, Stauss, Hans, Thaventhiran, James, Thomas, Moira, Welch, Steve, Willcocks, Lisa, Yeatman, Nigel, Yong, Patrick, Ancliff, Phil, Babbs, Christian, Layton, Mark, Louka, Eleni, McGowan, Simon, Mead, Adam, Roy, Noémi, Chambers, Jenny, Dixon, Peter, Estiu, Cecelia, Hague, Bill, Marschall, Hanns-Ulrich, Simpson, Michael, Chong, Sam, Emmerson, Ingrid, Ginsberg, Lionel, Gosal, David, Hadden, Rob, Horvath, Rita, Mahdi-Rogers, Mohamed, Manzur, Adnan, Marshall, Andrew, Matthews, Emma, McCarthy, Mark, Reilly, Mary, Renton, Tara, Rice, Andrew, Themistocleous, Andreas, Vale, Tom, Van Zuydam, Natalie, Walker, Suellen, Ormondroyd, Liz, Hudson, Gavin, Wei, Wei, Yu Wai Man, Patrick, Whitworth, James, Afzal, Maryam, Colby, Elizabeth, Saleem, Moin, Alavijeh, Omid S., Cook, H. Terry, Johnson, Sally, Levine, Adam P., Wong, Edwin K.S., Tan, Rhea, Boycott, Kym M., MacKenzie, Alex, Majewski, Jacek, Brudno, Michael, Bulman, Dennis, Dyment, David, Ito, Yoko, Duarte, Sofia T., Hartley, Taila, Keren, Boris, Marey, Isabelle, Charles, Perinne, Mendonça, Carla, Nava, Caroline, Pfundt, Rolph, van Bokhoven, Hans, van Essen, Anthony, van Ravenswaaij-Arts, Conny, Kernohan, Kristin D., Dyack, Sarah

Source: In The American Journal of Human Genetics 5 July 2018 103(1):144-153

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Inherited bone marrow failure syndromes

Authors: Collins, Janine, Dokal, Inderjeet

Source: Hematology. 20(7):433-434

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100108361234.0x000001&indx=1&recIds=ETOCvdc_100108361234.0x000001

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