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353 results on '"Chalmers, Elizabeth"'

1. Obituaries

Author

Skinner, Patrick and Chalmers, Elizabeth

Published
1991

4. Dabigatran etexilate for the treatment of acute venous thromboembolism in children (DIVERSITY): a randomised, controlled, open-label, phase 2b/3, non-inferiority trial

Author

Nurmeev, Ildar, Safina, Asiya, Zapletal, Ondrej, Brandão, Leonardo R, Kuhn, Tomas, Votava, Tomas, Felgenhauer, Judy, Sharathkumar, Anjali, Svirin, Pavel, Amid, Ali, Halton, Jacqueline, Gorbatikov, Kirill, Saracco, Paola, Kiss, Csongor, Halimeh, Susan, Reschke, Madlen, Wulff, Beate, David, Michele, Novak, Zbynek, Trunina, Inna, Albisetti, Manuela, Frisk, Tony, Glosli, Heidi, Groll, Andreas, Lvova, Olga, Sasmaz, Ilgen, Sosothikul, Darintr, Zilinskaite, Virginija, Cockrell, Erin, Digtyar, Valeriy, Hadacova, Ivana, Palmu, Sauli, Pawar, Anjali, Annichino Bizzacchi, Joyce Maria, Caliskan, Umran, Celkan, Tiraje, Dmytriiev, Dmytro, Druzgal, Colleen Harkins, Onelda Elena, Graciela, Kattamis, Antonis, Kavakli, Ramazan Kaan, Male, Christoph, Ozdemir, Nihal, Van Damme, An, Zvereva, Tatiana, Aarli, Aanen, Paredes Aguilera, Rogelio Alejandro, Aytac, Selin, Carneiro, Jorge, Chistolini, Antonio, Mazzucconi, Maria Gabriela, Corrales-Medina, Fernando, Couturaud, Francis, Croteau, Stacey E, Trenor III, Cameron, Damgaard, Michael, Dixon, Natalia, Galustyan, Anna, Hak, Jiri, Hoffmann, Marianne, Kupesiz, Alphan, Labarque, Veerle, van Geet, Christel, Lin, Ming-Chih, Fu, Yun-Ching, Loggetto, Sandra, Mondelaers, Veerle, Odri-Komazec, Irena, Revel-Vilk, Shoshana, Sevilla, Julian, Fuzzato Silva, Luciano, Kerr Saraiva, José, Montes Tapia, Fernando Felix, Woods-Swafford, Wendy, Luciani, Matteo, Bomgaars, Lisa, Chalmers, Elizabeth, Mitchell, Lesley G, Tartakovsky, Igor, Simetzberger, Monika, Huang, Fenglei, Sun, Zhichao, Kreuzer, Jörg, Gropper, Savion, Reilly, Paul, and Brueckmann, Martina

Published
2021
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5. Safety and efficacy of rivaroxaban in pediatric cerebral venous thrombosis (EINSTEIN-Jr CVT): for the EINSTEIN-Jr Cerebral Venous Thrombosis trial investigators

Author

Connor, Philip, Sánchez van Kammen, Mayte, Lensing, Anthonie W.A., Chalmers, Elizabeth, Kállay, Krisztián, Hege, Kerry, Simioni, Paolo, Biss, Tina, Bajolle, Fanny, Bonnet, Damien, Grunt, Sebastian, Kumar, Riten, Lvova, Olga, Bhat, Rukhmi, Van Damme, An, Palumbo, Joseph, Santamaria, Amparo, Saracco, Paola, Payne, Jeanette, Baird, Susan, Godder, Kamar, Labarque, Veerle, Male, Christoph, Martinelli, Ida, Morales Soto, Michelle, Motwani, Jayashree, Shah, Sanjay, Hooimeijer, Helene L., Prins, Martin H., Kubitza, Dagmar, Smith, William T., Berkowitz, Scott D., Pap, Akos F., Majumder, Madhurima, Monagle, Paul, and Coutinho, Jonathan M.

Published
2020
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6. Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Author

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, and Guerrero, Jose A.

Published
2020
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7. Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Author

Arno, Gavin, Carss, Keren J, Hull, Sarah, Zihni, Ceniz, Robson, Anthony G, Fiorentino, Alessia, Hardcastle, Alison J, Holder, Graham E, Cheetham, Michael E, Plagnol, Vincent, Moore, Anthony, Raymond, F Lucy, Matter, Karl, Balda, Maria S, Webster, Andrew R, Black, Graeme, Hall, Georgina, Ingram, Stuart, Gillespie, Rachel, Manson, Forbes, Sergouniotis, Panagiotis, Inglehearn, Chris, Toomes, Carmel, Ali, Manir, McKibbin, Martin, Poulter, James, Khan, Kamron, Lord, Emma, Nemeth, Andrea, Downes, Susan, Halford, Stephanie, Yu, Jing, Lise, Stefano, Ponitkos, Nikos, Michaelides, Michel, Webster, Andrew, van Heyningen, Veronica, Aitman, Timothy, Alachkar, Hana, Ali, Sonia, Allen, Louise, Allsup, David, Ambegaonkar, Gautum, Anderson, Julie, Antrobus, Richard, Armstrong, Ruth, Arumugakani, Gururaj, Ashford, Sofie, Astle, William, Attwood, Antony, Austin, Steve, Bacchelli, Chiara, Bakchoul, Tamam, Bariana, Tadbir K, Baxendale, Helen, Bennett, David, Bethune, Claire, Bibi, Shahnaz, Bitner-Glindzicz, Maria, Bleda, Marta, Boggard, Harm, Bolton-Maggs, Paula, Booth, Claire, Bradley, John R, Brady, Angie, Brown, Matthew, Browning, Michael, Bryson, Christine, Burns, Siobhan, Calleja, Paul, Canham, Natalie, Carmichael, Jenny, Carss, Keren, Caulfield, Mark, Chalmers, Elizabeth, Chandra, Anita, Chinnery, Patrick, Chitre, Manali, Church, Colin, Clement, Emma, Clements-Brod, Naomi, Clowes, Virginia, Coghlan, Gerry, Collins, Peter, Cooper, Nichola, Creaser-Myers, Amanda, DaCosta, Rosa, Daugherty, Louise, Davies, Sophie, Davis, John, De Vries, Minka, Deegan, Patrick, Deevi, Sri VV, and Deshpande, Charu

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Ophthalmology and Optometry, Human Genome, Rare Diseases, Neurosciences, Eye Disease and Disorders of Vision, Aetiology, 2.1 Biological and endogenous factors, Eye, Adult, Alleles, Amino Acid Sequence, Cell Polarity, Epithelial Cells, Exome, Eye Proteins, Female, Genetic Variation, Genome-Wide Association Study, Genotype, Humans, Male, Membrane Proteins, Middle Aged, Mutation, Missense, Nerve Tissue Proteins, Pedigree, Phenotype, Retina, Retinal Degeneration, Retinal Dystrophies, Rho Guanine Nucleotide Exchange Factors, rhoA GTP-Binding Protein, UK Inherited Retinal Disease Consortium, NIHR Bioresource - Rare Diseases Consortium, ARHGEF18, apicobasal polarity, inherited retinal dystrophy, p114RhoGEF, retinal degeneration, retinitis pigmentosa, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Mutations in more than 250 genes are implicated in inherited retinal dystrophy; the encoded proteins are involved in a broad spectrum of pathways. The presence of unsolved families after highly parallel sequencing strategies suggests that further genes remain to be identified. Whole-exome and -genome sequencing studies employed here in large cohorts of affected individuals revealed biallelic mutations in ARHGEF18 in three such individuals. ARHGEF18 encodes ARHGEF18, a guanine nucleotide exchange factor that activates RHOA, a small GTPase protein that is a key component of tight junctions and adherens junctions. This biological pathway is known to be important for retinal development and function, as mutation of CRB1, encoding another component, causes retinal dystrophy. The retinal structure in individuals with ARHGEF18 mutations resembled that seen in subjects with CRB1 mutations. Five mutations were found on six alleles in the three individuals: c.808A>G (p.Thr270Ala), c.1617+5G>A (p.Asp540Glyfs∗63), c.1996C>T (p.Arg666∗), c.2632G>T (p.Glu878∗), and c.2738_2761del (p.Arg913_Glu920del). Functional tests suggest that each disease genotype might retain some ARHGEF18 activity, such that the phenotype described here is not the consequence of nullizygosity. In particular, the p.Thr270Ala missense variant affects a highly conserved residue in the DBL homology domain, which is required for the interaction and activation of RHOA. Previously, knock-out of Arhgef18 in the medaka fish has been shown to cause larval lethality which is preceded by retinal defects that resemble those seen in zebrafish Crumbs complex knock-outs. The findings described here emphasize the peculiar sensitivity of the retina to perturbations of this pathway, which is highlighted as a target for potential therapeutic strategies.

Published
2017

8. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Author

Carss, Keren J, Arno, Gavin, Erwood, Marie, Stephens, Jonathan, Sanchis-Juan, Alba, Hull, Sarah, Megy, Karyn, Grozeva, Detelina, Dewhurst, Eleanor, Malka, Samantha, Plagnol, Vincent, Penkett, Christopher, Stirrups, Kathleen, Rizzo, Roberta, Wright, Genevieve, Josifova, Dragana, Bitner-Glindzicz, Maria, Scott, Richard H, Clement, Emma, Allen, Louise, Armstrong, Ruth, Brady, Angela F, Carmichael, Jenny, Chitre, Manali, Henderson, Robert HH, Hurst, Jane, MacLaren, Robert E, Murphy, Elaine, Paterson, Joan, Rosser, Elisabeth, Thompson, Dorothy A, Wakeling, Emma, Ouwehand, Willem H, Michaelides, Michel, Moore, Anthony T, Consortium, NIHR-BioResource Rare Diseases, Aitman, Timothy, Alachkar, Hana, Ali, Sonia, Allsup, David, Ambegaonkar, Gautum, Anderson, Julie, Antrobus, Richard, Arumugakani, Gururaj, Ashford, Sofie, Astle, William, Attwood, Antony, Austin, Steve, Bacchelli, Chiara, Bakchoul, Tamam, Bariana, Tadbir K, Baxendale, Helen, Bennett, David, Bethune, Claire, Bibi, Shahnaz, Bleda, Marta, Boggard, Harm, Bolton-Maggs, Paula, Booth, Claire, Bradley, John R, Brady, Angie, Brown, Matthew, Browning, Michael, Bryson, Christine, Burns, Siobhan, Calleja, Paul, Canham, Natalie, Carss, Keren, Caulfield, Mark, Chalmers, Elizabeth, Chandra, Anita, Chinnery, Patrick, Church, Colin, Clements-Brod, Naomi, Clowes, Virginia, Coghlan, Gerry, Collins, Peter, Cooper, Nichola, Creaser-Myers, Amanda, DaCosta, Rosa, Daugherty, Louise, Davies, Sophie, Davis, John, De Vries, Minka, Deegan, Patrick, Deevi, Sri VV, Deshpande, Charu, Devlin, Lisa, Doffinger, Rainer, Dormand, Natalie, Drewe, Elizabeth, and Edgar, David

Subjects
Genetics, Neurosciences, Eye Disease and Disorders of Vision, Human Genome, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Eye, Good Health and Well Being, Adaptor Proteins, Signal Transducing, Alleles, Base Sequence, Choroideremia, DNA Mutational Analysis, Ethnicity, Exome, Female, Genes, Recessive, Genetic Variation, Genome, Human, Humans, Introns, Male, Mutation, Rare Diseases, Retinal Diseases, NIHR-BioResource Rare Diseases Consortium, copy-number variants, rare sequence variant, retinal dystrophy, whole-genome sequence, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or both (n = 45) performed, as part of the NIHR-BioResource Rare Diseases research study. We identified pathogenic variants (single-nucleotide variants, indels, or structural variants) for 404/722 (56%) individuals. Whole-genome sequencing gives unprecedented power to detect three categories of pathogenic variants in particular: structural variants, variants in GC-rich regions, which have significantly improved coverage compared to whole-exome sequencing, and variants in non-coding regulatory regions. In addition to previously reported pathogenic regulatory variants, we have identified a previously unreported pathogenic intronic variant in CHM in two males with choroideremia. We have also identified 19 genes not previously known to be associated with inherited retinal disease, which harbor biallelic predicted protein-truncating variants in unsolved cases. Whole-genome sequencing is an increasingly important comprehensive method with which to investigate the genetic causes of inherited retinal disease.

Published
2017

10. Rivaroxaban compared with standard anticoagulants for the treatment of acute venous thromboembolism in children: a randomised, controlled, phase 3 trial

Author

Molinari, Angelo C., Nowak Göttl, Ulrike, Chain, Juan, Robertson, Jeremy, Thom, Katharina, Streif, Werner, Schwarz, Rudolf, Schmitt, Klaus, Grangl, Gernot, Van Damme, An, Maes, Philip, Labarque, Veerle, Petrilli, Antonio, Loggeto, Sandra, Azeka, Estela, Brandao, Leonardo, Le, Doan, Sabapathy, Christine, Giordano, Paola, Wu, Runhui, Ding, Jie, Huang, Wenyan, Mao, Jianhua, Lähteenmäki, Päivi, Amedro, Pascal, Decramer, Stephane, Bernig, Toralf, Chada, Martin, Chan, Godfrey, Kally, Krisztian, Nolan, Beatrice, Revel-Vilk, Shoshana, Tamary, Hannah, Levin, Carina, Tormene, Daniela, Abbattista, Maria, Artoni, Andrea, Ikeyama, Takanari, Inuzuka, Ryo, Yasukochi, Satoshi, Morales Soto, Michelle, Solis Labastida, Karina A, Suijker, Monique H, Bartels, Marike, Tamminga, Rienk Y, Van Ommen, C Heleen, Te Loo, D. Maroeska, Anjos, Rui, Zubarovskaya, Lyudmila, Popova, Natalia, Samochatova, Elena, Belogurova, Margarita, Svirin, Pavel, Shutova, Tatiana, Lebedev, Vladimir, Barbarash, Olga, Koh, Pei L, Mei, Joyce C, Podracka, Ludmila, Berrueco, Ruben, Fernandez, Maria F, Frisk, Tony, Grunt, Sebastian, Rischewski, Johannes, Albisetti-Pedroni, Manuela, Antmen, Ali, Tokgoz, Huseyin, Karakas, Zeynep, Chalmers, Elizabeth, Motwani, Jayashree, Williams, Michael, Grainger, John, Payne, Jeanette, Richards, Mike, Baird, Susan, Bhatnagar, Neha, Aramburo, Angela, Crary, Shelley, Wynn, Tung, Carpenter, Shannon, Hege, Kerry, Ahuja, Sanjay, Goldenberg, Neil, Woods, Gary, Godder, Kamar, Scott-Emuakpor, Ajovi, Roach, Gavin, Raffini, Leslie, Shah, Nirmish, Shah, Sanjay, Thornburg, Courtney, Zia, Ayesha, Berkow, Roger, Male, Christoph, Lensing, Anthonie W A, Palumbo, Joseph S, Kumar, Riten, Nurmeev, Ildar, Bonnet, Damien, Connor, Philip, Hooimeijer, Hélène L, Torres, Marcela, Chan, Anthony K C, Kenet, Gili, Holzhauer, Susanne, Santamaría, Amparo, Simioni, Paolo, Bhat, Rukhmi V, Yee, Donald L, Lvova, Olga, Beyer-Westendorf, Jan, Biss, Tina T, Martinelli, Ida, Saracco, Paola, Peters, Marjolein, Kállay, Krisztián, Gauger, Cynthia A, Massicotte, M Patricia, Young, Guy, Pap, Akos F, Majumder, Madhurima, Smith, William T, Heubach, Jürgen F, Berkowitz, Scott D, Thelen, Kirstin, Kubitza, Dagmar, Crowther, Mark, Prins, Martin H, and Monagle, Paul

Published
2020
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11. Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

Author

Aitman, Timothy, Alachkar, Hana, Ali, Sonia, Allen, Louise, Allsup, David, Ambegaonkar, Gautum, Anderson, Julie, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Arumugakani, Gururaj, Ashford, Sofie, Astle, William, Attwood, Antony, Austin, Steve, Bacchelli, Chiara, Bakchoul, Tamam, Bariana, Tadbir K., Baxendale, Helen, Bennett, David, Bethune, Claire, Bibi, Shahnaz, Bitner-Glindzicz, Maria, Bleda, Marta, Boggard, Harm, Bolton-Maggs, Paula, Booth, Claire, Bradley, John R., Brady, Angie, Brown, Matthew, Browning, Michael, Bryson, Christine, Burns, Siobhan, Calleja, Paul, Canham, Natalie, Carmichael, Jenny, Carss, Keren, Caulfield, Mark, Chalmers, Elizabeth, Chandra, Anita, Chinnery, Patrick, Chitre, Manali, Church, Colin, Clement, Emma, Clements-Brod, Naomi, Clowes, Virginia, Coghlan, Gerry, Collins, Peter, Cookson, Victoria, Cooper, Nichola, Corris, Paul, Creaser-Myers, Amanda, DaCosta, Rosa, Daugherty, Louise, Davies, Sophie, Davis, John, De Vries, Minka, Deegan, Patrick, Deevi, Sri V.V., Deshpande, Charu, Devlin, Lisa, Dewhurst, Eleanor, Dixon, Peter, Doffinger, Rainer, Dormand, Natalie, Drewe, Elizabeth, Edgar, David, Egner, William, Erber, Wendy N., Erwood, Marie, Everington, Tamara, Favier, Remi, Firth, Helen, Fletcher, Debra, Flinter, Frances, Frary, Amy, Freson, Kathleen, Furie, Bruce, Furnell, Abigail, Gale, Daniel, Gardham, Alice, Gattens, Michael, Ghali, Neeti, Ghataorhe, Pavandeep K., Ghurye, Rohit, Gibbs, Simon, Gilmour, Kimberley, Gissen, Paul, Goddard, Sarah, Gomez, Keith, Gordins, Pavel, Graf, Stefan, Gräf, Stefan, Greene, Daniel, Greenhalgh, Alan, Greinacher, Andreas, Grigoriadou, Sofia, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, Rosie, Haimel, Matthias, Halmagyi, Csaba, Hammerton, Tracey, Hart, Daniel, Hayman, Grant, Heemskerk, Johan W.M., Henderson, Robert, Hensiek, Anke, Henskens, Yvonne, Herwadkar, Archana, Holden, Simon, Holder, Muriel, Holder, Susan, Hu, Fengyuan, Huis in’t Veld, Anna, Huissoon, Aarnoud, Humbert, Marc, Hurst, Jane, James, Roger, Jolles, Stephen, Josifova, Dragana, Kazmi, Rashid, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kennedy, Fiona, Kiely, David, Kingston, Nathalie, Koziell, Ania, Krishnakumar, Deepa, Kuijpers, Taco W., Kuijpers, Taco, Kumararatne, Dinakantha, Kurian, Manju, Laffan, Michael A., Lambert, Michele P., Allen, Hana Lango, Lango-Allen, Hana, Lawrie, Allan, Lear, Sara, Lees, Melissa, Lentaigne, Claire, Liesner, Ri, Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena, Louka, Eleni, Machado, Rajiv, Ross, Rob Mackenzie, MacLaren, Robert, Maher, Eamonn, Maimaris, Jesmeen, Mangles, Sarah, Manson, Ania, Mapeta, Rutendo, Markus, Hugh S., Martin, Jennifer, Masati, Larahmie, Mathias, Mary, Matser, Vera, Maw, Anna, McDermott, Elizabeth, McJannet, Coleen, Meacham, Stuart, Meehan, Sharon, Megy, Karyn, Mehta, Sarju, Michaelides, Michel, Millar, Carolyn M., Moledina, Shahin, Moore, Anthony, Morrell, Nicholas, Mumford, Andrew, Murng, Sai, Murphy, Elaine, Nejentsev, Sergey, Noorani, Sadia, Nurden, Paquita, Oksenhendler, Eric, Othman, Shokri, Ouwehand, Willem H., Papadia, Sofia, Park, Soo-Mi, Parker, Alasdair, Pasi, John, Patch, Chris, Paterson, Joan, Payne, Jeanette, Peacock, Andrew, Peerlinck, Kathelijne, Penkett, Christopher J., Pepke-Zaba, Joanna, Perry, David, Perry, David J., Pollock, Val, Polwarth, Gary, Ponsford, Mark, Qasim, Waseem, Quinti, Isabella, Rankin, Stuart, Rankin, Julia, Raymond, F. Lucy, Rayner-Matthews, Paula, Rehnstrom, Karola, Reid, Evan, Rhodes, Christopher J., Richards, Michael, Richardson, Sylvia, Richter, Alex, Roberts, Irene, Rondina, Matthew, Rosser, Elisabeth, Roughley, Catherine, Roy, Noémi, Rue-Albrecht, Kevin, Samarghitean, Crina, Sanchis-Juan, Alba, Sandford, Richard, Santra, Saikat, Sargur, Ravishankar, Savic, Sinisa, Schotte, Gwen, Schulman, Sol, Schulze, Harald, Scott, Richard, Scully, Marie, Seneviratne, Suranjith, Sewell, Carrock, Shamardina, Olga, Shipley, Debbie, Simeoni, Ilenia, Sivapalaratnam, Suthesh, Smith, Kenneth G.C., Sohal, Aman, Southgate, Laura, Staines, Simon, Staples, Emily, Stark, Hannah, Stauss, Hans, Stein, Penelope, Stephens, Jonathan, Stirrups, Kathleen, Stock, Sophie, Suntharalingam, Jay, Talks, Kate, Tan, Yvonne, Thachil, Jecko, Thaventhiran, James, Thomas, Ellen, Thomas, Moira, Thompson, Dorothy, Thrasher, Adrian, Tischkowitz, Marc, Titterton, Catherine, Toh, Cheng-Hock, Toshner, Mark, Treacy, Carmen, Trembath, Richard, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Van Geet, Chris, Veltman, Marijke, Vogt, Julie, von Ziegenweldt, Julie, Vonk Noordegraaf, Anton, Wakeling, Emma, Wanjiku, Ivy, Warner, Timothy Q., Wassmer, Evangeline, Watkins, Hugh, Watt, Christopher, Webster, ndrew, Welch, Steve, Westbury, Sarah, Wharton, John, Whitehorn, Deborah, Wilkins, Martin, Willcocks, Lisa, Williamson, Catherine, Woods, Geoffrey, Woods, Geoff, Wort, John, Yeatman, Nigel, Yong, Patrick, Young, Tim, Yu, Ping, Whitworth, James, Smith, Philip S., Martin, Jose-Ezequiel, West, Hannah, Luchetti, Andrea, Rodger, Faye, Clark, Graeme, Penkett, Chris, Shakeel, Hassan, Ahmed, Munaza, Adlard, Julian, Barwell, Julian, Brewer, Carole, Casey, Ruth T., Cole, Trevor, Evans, Dafydd Gareth, Fostira, Florentia, Greenhalgh, Lynn, Hanson, Helen, Henderson, Alex, Hoffman, Jonathan, Izatt, Louise, Kumar, Ajith, Kwong, Ava, Lalloo, Fiona, Ong, Kai Ren, Chen-Shtoyerman, Rakefet, Searle, Claire, Side, Lucy, Skytte, Anne-Bine, Snape, Katie, Woodward, Emma R., Tischkowitz, Marc D., and Maher, Eamonn R.

Published
2018
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14. Life on the Island: Collage Portraiture and Storytelling as Community Building.

Author

Gerstenblatt, Paula, Luken, Lisa, and Chalmers, Elizabeth

Subjects
COLLAGE, SEMI-structured interviews, STORYTELLING, DATA analysis, RESEARCH methodology
Abstract

This qualitative study explored the experiences of island residents who participated in a collage portraiture workshop. Workshop participants used collage portraiture, an arts-based research method, to tell their stories of island life and engage with fellow community members. Nine island residents participated in the workshop and were interviewed about the experience using a semi-structured interview guide. Interviews were transcribed verbatim, and data analysis revealed three overarching themes: (a) the process of collage portraiture, (b) collage portraiture as storytelling, and (c) future use of collage portraiture. This study contributes to a small body of literature investigating the use of collage portraiture as a method of storytelling and as an arts-based research method for use in community building. [ABSTRACT FROM AUTHOR]

Published
2024
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15. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Author

Aitman, Timothy, Alachkar, Hana, Ali, Sonia, Allen, Louise, Allsup, David, Ambegaonkar, Gautum, Anderson, Julie, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Arumugakani, Gururaj, Ashford, Sofie, Astle, William, Attwood, Antony, Austin, Steve, Bacchelli, Chiara, Bakchoul, Tamam, Bariana, Tadbir K., Baxendale, Helen, Bennett, David, Bethune, Claire, Bibi, Shahnaz, Bitner-Glindzicz, Maria, Bleda, Marta, Boggard, Harm, Bolton-Maggs, Paula, Booth, Claire, Bradley, John R., Brady, Angie, Brown, Matthew, Browning, Michael, Bryson, Christine, Burns, Siobhan, Calleja, Paul, Canham, Natalie, Carmichael, Jenny, Carss, Keren, Caulfield, Mark, Chalmers, Elizabeth, Chandra, Anita, Chinnery, Patrick, Chitre, Manali, Church, Colin, Clement, Emma, Clements-Brod, Naomi, Clowes, Virginia, Coghlan, Gerry, Collins, Peter, Cooper, Nichola, Creaser-Myers, Amanda, DaCosta, Rosa, Daugherty, Louise, Davies, Sophie, Davis, John, De Vries, Minka, Deegan, Patrick, Deevi, Sri V.V., Deshpande, Charu, Devlin, Lisa, Dewhurst, Eleanor, Doffinger, Rainer, Dormand, Natalie, Drewe, Elizabeth, Edgar, David, Egner, William, Erber, Wendy N., Erwood, Marie, Everington, Tamara, Favier, Remi, Firth, Helen, Fletcher, Debra, Flinter, Frances, Fox, James C., Frary, Amy, Freson, Kathleen, Furie, Bruce, Furnell, Abigail, Gale, Daniel, Gardham, Alice, Gattens, Michael, Ghali, Neeti, Ghataorhe, Pavandeep K., Ghurye, Rohit, Gibbs, Simon, Gilmour, Kimberley, Gissen, Paul, Goddard, Sarah, Gomez, Keith, Gordins, Pavel, Gräf, Stefan, Greene, Daniel, Greenhalgh, Alan, Greinacher, Andreas, Grigoriadou, Sofia, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, Rosie, Haimel, Matthias, Halmagyi, Csaba, Hammerton, Tracey, Hart, Daniel, Hayman, Grant, Heemskerk, Johan W.M., Henderson, Robert, Hensiek, Anke, Henskens, Yvonne, Herwadkar, Archana, Holden, Simon, Holder, Muriel, Holder, Susan, Hu, Fengyuan, Huissoon, Aarnoud, Humbert, Marc, Hurst, Jane, James, Roger, Jolles, Stephen, Josifova, Dragana, Kazmi, Rashid, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kennedy, Fiona, Kiely, David, Kingston, Nathalie, Koziell, Ania, Krishnakumar, Deepa, Kuijpers, Taco W., Kumararatne, Dinakantha, Kurian, Manju, Laffan, Michael A., Lambert, Michele P., Allen, Hana Lango, Lawrie, Allan, Lear, Sara, Lees, Melissa, Lentaigne, Claire, Liesner, Ri, Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena, Machado, Rajiv, Mackenzie, Rob, MacLaren, Robert, Maher, Eamonn, Maimaris, Jesmeen, Mangles, Sarah, Manson, Ania, Mapeta, Rutendo, Markus, Hugh S., Martin, Jennifer, Masati, Larahmie, Mathias, Mary, Matser, Vera, Maw, Anna, McDermott, Elizabeth, McJannet, Coleen, Meacham, Stuart, Meehan, Sharon, Megy, Karyn, Mehta, Sarju, Michaelides, Michel, Millar, Carolyn M., Moledina, Shahin, Moore, Anthony, Morrell, Nicholas, Mumford, Andrew, Murng, Sai, Murphy, Elaine, Nejentsev, Sergey, Noorani, Sadia, Nurden, Paquita, Oksenhendler, Eric, Ouwehand, Willem H., Papadia, Sofia, Park, Soo-Mi, Parker, Alasdair, Pasi, John, Patch, Chris, Paterson, Joan, Payne, Jeanette, Peacock, Andrew, Peerlinck, Kathelijne, Penkett, Christopher J., Pepke-Zaba, Joanna, Perry, David J., Pollock, Val, Polwarth, Gary, Ponsford, Mark, Qasim, Waseem, Quinti, Isabella, Rankin, Stuart, Rankin, Julia, Raymond, F. Lucy, Rehnstrom, Karola, Reid, Evan, Rhodes, Christopher J., Richards, Michael, Richardson, Sylvia, Richter, Alex, Roberts, Irene, Rondina, Matthew, Rosser, Elisabeth, Roughley, Catherine, Rue-Albrecht, Kevin, Samarghitean, Crina, Sanchis-Juan, Alba, Sandford, Richard, Santra, Saikat, Sargur, Ravishankar, Savic, Sinisa, Schulman, Sol, Schulze, Harald, Scott, Richard, Scully, Marie, Seneviratne, Suranjith, Sewell, Carrock, Shamardina, Olga, Shipley, Debbie, Simeoni, Ilenia, Sivapalaratnam, Suthesh, Smith, Kenneth, Sohal, Aman, Southgate, Laura, Staines, Simon, Staples, Emily, Stauss, Hans, Stein, Penelope, Stephens, Jonathan, Stirrups, Kathleen, Stock, Sophie, Suntharalingam, Jay, Tait, R. Campbell, Talks, Kate, Tan, Yvonne, Thachil, Jecko, Thaventhiran, James, Thomas, Ellen, Thomas, Moira, Thompson, Dorothy, Thrasher, Adrian, Tischkowitz, Marc, Titterton, Catherine, Toh, Cheng-Hock, Toshner, Mark, Treacy, Carmen, Trembath, Richard, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Van Geet, Chris, Veltman, Marijke, Vogt, Julie, von Ziegenweldt, Julie, Vonk Noordegraaf, Anton, Wakeling, Emma, Wanjiku, Ivy, Warner, Timothy Q., Wassmer, Evangeline, Watkins, Hugh, Webster, Andrew, Welch, Steve, Westbury, Sarah, Wharton, John, Whitehorn, Deborah, Wilkins, Martin, Willcocks, Lisa, Williamson, Catherine, Woods, Geoffrey, Wort, John, Yeatman, Nigel, Yong, Patrick, Young, Tim, Yu, Ping, Carss, Keren J., Hull, Sarah, Malka, Samantha, Plagnol, Vincent, Penkett, Christopher, Rizzo, Roberta, Wright, Genevieve, Scott, Richard H., Brady, Angela F., Henderson, Robert H.H., MacLaren, Robert E., Thompson, Dorothy A., Moore, Anthony T., and Webster, Andrew R.

Published
2017
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16. Clinical and experimental studies on engraftment and chimerism following allogeneic bone marrow transplantation

Author

Chalmers, Elizabeth A.

Subjects
616.1
Abstract

This thesis describes the analysis of various aspects of engraftment and chimerism in patients undergoing allogeneic bone marrow transplantation (BMT). The first section discusses the background to allogeneic BMT and deals in particular with the advantages and disadvantages of the T-cell depletion procedure. The concept of haemopoietic chimerism is introduced and the available methods for monitoring host and donor cell populations in the post-transplant period are reviewed.

Published
1992

18. Edoxaban for Thromboembolism Prevention in Pediatric Patients With Cardiac Disease

Author

Portman, Michael A., primary, Jacobs, Jeffrey P., additional, Newburger, Jane W., additional, Berger, Felix, additional, Grosso, Michael A., additional, Duggal, Anil, additional, Tao, Ben, additional, Goldenberg, Neil A., additional, Brothers, Matthew, additional, Marino, Bradley, additional, Canter, Charles, additional, Law, Mark, additional, Nguyen, Nguyenvu, additional, Sang, Charlie, additional, Shimano, Kristin, additional, Gupta, Dipankar, additional, Portman, Michael, additional, Williams, Derek, additional, Glass, Lauren, additional, Sperrazza, Charles, additional, Herold, Steven, additional, Garg, Ruchira, additional, Vranicar, Mark, additional, Awad, Sawsan, additional, Asante-Korang, Alfred, additional, Druzgal, Colleen, additional, Ozment, Caroline, additional, Del Toro, Kamill, additional, Roses, Ferran, additional, Jux, Christian, additional, Gravenhorst, Verena, additional, Schweigmann, Ulrich, additional, Bhatt, Mihir, additional, Sabapathy, Christine, additional, Dahdah, Nagib, additional, Bartonicek, Dototea, additional, Tulzer, Gerald, additional, Basargina, Elena, additional, Zvereva, Tatiana, additional, Pertels, Tatiana, additional, Plotnikova, Irina, additional, Pierre-Emmanuel, S.E.G.U.E.L.A., additional, Amedro, Pascal, additional, Yves, Dulac, additional, BONNET, Damien, additional, Saraco, Paola, additional, Rimini, Alessandro, additional, Digtiar, Valerii, additional, Gonchar, Margaryta, additional, Kryuchko, Tetyana, additional, Yablon, Olga, additional, Bedi, Varinder Singh, additional, Patel, Jashvant, additional, Mitra, Monjori, additional, Kusa, Jacek, additional, Domagala, Kowalczyk, additional, KÖRNYEI, László, additional, BERECZKI, Csaba, additional, ABLONCZY, László, additional, Levitas, Vivianne Aviva, additional, Mishali, David, additional, Revel-Vilk, Shoshana, additional, Harlev, Dan, additional, Sasmaz, Hatice Ilgen, additional, Ozbek, Namik Yasar, additional, Unal, Sule, additional, Patıroglu, Türkan, additional, Malbora, Baris, additional, Agin, Hasan, additional, Karakas, Zeynep, additional, Kavakli, Ramazan Kaan, additional, Chalmers, Elizabeth, additional, Bu'Lock, Frances, additional, Daubeney, Piers, additional, Hamza, Hala, additional, Badr, Mohamed, additional, Elalfy, Mohsen, additional, Mansour, Ahmed, additional, Hassab, Hoda, additional, Sabry, Ayman, additional, Daou, Linda, additional, and Bitar, Fadi, additional

Published
2022
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20. Intensity of factor VIII treatment and inhibitor development in children with severe hemophilia A: the RODIN study

Author

Gouw, Samantha C., van den Berg, H. Marijke, Fischer, Kathelijn, Auerswald, Günter, Carcao, Manuel, Chalmers, Elizabeth, Chambost, Hervé, Kurnik, Karin, Liesner, Ri, Petrini, Pia, Platokouki, Helen, Altisent, Carmen, Oldenburg, Johannes, Nolan, Beatrice, Garrido, Rosario Pérez, Mancuso, M. Elisa, Rafowicz, Anne, Williams, Mike, Clausen, Niels, Middelburg, Rutger A., Ljung, Rolf, and van der Bom, Johanna G.

Published
2013
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23. Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Author

Hadinnapola, Charaka, Bleda, Marta, Haimel, Matthias, Screaton, Nicholas, Swift, Andrew, Dorfmüller, Peter, Preston, Stephen D., Southwood, Mark, Hernandez-Sanchez, Jules, Martin, Jennifer, Treacy, Carmen, Yates, Katherine, Bogaard, Harm, Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A., Gibbs, Simon, Girerd, Barbara, Holden, Simon, Humbert, Marc, Kiely, David G., Lawrie, Allan, Machado, Rajiv, MacKenzie Ross, Robert, Moledina, Shahin, Montani, David, Newnham, Michael, Peacock, Andrew, Pepke-Zaba, Joanna, Rayner-Matthews, Paula, Shamardina, Olga, Soubrier, Florent, Southgate, Laura, Suntharalingam, Jay, Toshner, Mark, Trembath, Richard, Noordegraaf, Anton Vonk, Wilkins, Martin R., Wort, Stephen J., Wharton, John, Gräf, Stefan, Morrell, Nicholas W., Aitman, Timothy, Bennett, David, Caulfield, Mark, Chinnery, Patrick, Gale, Daniel, Koziell, Ania, Kuijpers, Taco W, Laffan, Michael A, Maher, Eamonn, Markus, Hugh S, Ouwehand, Willem H, Perry, David, Raymond, F Lucy, Roberts, Irene, Smith, Kenneth, Thrasher, Adrian, Watkins, Hugh, Williamson, Catherine, Woods, Geoffrey, Ashford, Sofie, Bradley, John R, Fletcher, Debra, Hammerton, Tracey, James, Roger, Kingston, Nathalie, Ouwehand, Willem H, Penkett, Christopher J, Raymond, F Lucy, Stirrups, Kathleen, Veltman, Marijke, Young, Tim, Ashford, Sofie, Brown, Matthew, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Erwood, Marie, Frary, Amy, Linger, Rachel, Papadia, Sofia, Rehnstrom, Karola, Stark, Hannah, Allsup, David, Austin, Steve, Bakchoul, Tamam, Bariana, Tadbir K, Bolton-Maggs, Paula, Chalmers, Elizabeth, Collins, Peter, Erber, Wendy N, Everington, Tamara, Favier, Remi, Freson, Kathleen, Furie, Bruce, Gattens, Michael, Gomez, Keith, Greene, Daniel, Greinacher, Andreas, Hart, Daniel, Heemskerk, Johan WM, Henskens, Yvonne, Kazmi, Rashid, Keeling, David, Kelly, Anne M, Laffan, Michael A, Lambert, Michele P, Lentaigne, Claire, Liesner, Ri, Mangles, Sarah, Mathias, Mary, Millar, Carolyn M, Mumford, Andrew, Nurden, Paquita, Ouwehand, Willem H, Papadia, Sofia, Payne, Jeanette, Pasi, John, Perry, David J, Peerlinck, Kathelijne, Richards, Michael, Rondina, Matthew, Roughley, Catherine, Schulman, Sol, Schulze, Harald, Scully, Marie, Sivapalaratnam, Suthesh, Tait, R Campbell, Talks, Kate, Thachil, Jecko, Turro, Ernest, Toh, Cheng-Hock, Van Geet, Chris, De Vries, Minka, Warner, Timothy Q, Westbury, Sarah, Furnell, Abigail, Mapeta, Rutendo, Simeoni, Ilenia, Staines, Simon, Stephens, Jonathan, Stirrups, Kathleen, Whitehorn, Deborah, Watt, Christopher, Attwood, Antony, Daugherty, Louise, Deevi, Sri VV, Halmagyi, Csaba, Hu, Fengyuan, James, Roger, Matser, Vera, Meacham, Stuart, Megy, Karyn, Penkett, Christopher J, Stirrups, Kathleen, Titterton, Catherine, Tuna, Salih, Yu, Ping, von Ziegenweldt, Julie, Astle, William, Carss, Keren, Greene, Daniel, Lango-Allen, Hana, Turro, Ernest, Astle, William, Greene, Daniel, Richardson, Sylvia, Turro, Ernest, Calleja, Paul, Rankin, Stuart, Turek, Wojciech, Bryson, Christine, Anderson, Julie, Fletcher, Debra, McJannet, Coleen, Stock, Sophie, Young, Tim, Wassmer, Evangeline, Sohal, Aman, Santra, Saikat, Vogt, Julie, Chitre, Manali, Krishnakumar, Deepa, Ambegaonkar, Gautum, Maw, Anna, Armstrong, Ruth, Park, Soo-Mi, Mehta, Sarju, Paterson, Joan, Carmichael, Jenny, Allen, Louise, Hensiek, Anke, Firth, Helen, Stein, Penelope, Deegan, Patrick, Doffinger, Rainer, Parker, Alasdair, Bitner-Glindzicz, Maria, Scott, Richard, Hurst, Jane, Rosser, Elisabeth, Lees, Melissa, Clement, Emma, Henderson, Robert, Thompson, Dorothy, Gardham, Alice, Gissen, Paul, Josifova, Dragana, Thomas, Ellen, Patch, Chris, Deshpande, Charu, Flinter, Frances, Holder, Muriel, Canham, Natalie, Wakeling, Emma, Holder, Susan, Ghali, Neeti, Brady, Angie, Clowes, Virginia, MacLaren, Robert, Webster, Andrew, Moore, Anthony, Arno, Gavin, Michaelides, Michel, Rankin, Julia, Kurian, Manju, Murphy, Elaine, Carss, Keren, Sanchis-Juan, Alba, Erwood, Marie, Dewhurst, Eleanor, Grozeva, Detelina, Raymond, F Lucy, Reid, Evan, Woods, Geoff, Tischkowitz, Marc, Sandford, Richard, Ali, Sonia, Creaser-Myers, Amanda, Cookson, Victoria, DaCosta, Rosa, Dormand, Natalie, Ghataorhe, Pavandeep K, Greenhalgh, Alan, Huis in’t Veld, Anna, Kennedy, Fiona, Mackenzie Ross, Rob, Masati, Larahmie, Meehan, Sharon, Othman, Shokri, Pollock, Val, Polwarth, Gary, Rhodes, Christopher J, Rue-Albrecht, Kevin, Schotte, Gwen, Shipley, Debbie, Tan, Yvonne, Wanjiku, Ivy, Wort, John, Smith, Kenneth, Kuijpers, Taco, Thrasher, Adrian, Thaventhiran, James, Brown, Matthew, Lango Allen, Hana, Simeoni, Ilenia, Staples, Emily, Samarghitean, Crina, 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, Doffinger, Rainer, Drewe, Elizabeth, Edgar, David, Egner, William, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, 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, Sargur, Ravishankar, Savic, Sinisa, Seneviratne, Suranjith, Sewell, Carrock, Stauss, Hans, Thomas, Moira, Welch, Steve, Willcocks, Lisa, Yeatman, Nigel, and Yong, Patrick

Published
2017
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26. Anticoagulant Effects of Dabigatran on Coagulation Laboratory Parameters in Pediatric Patients: Combined Data from Five Pediatric Clinical Trials

Author

Mitchell, Lesley G., additional, Röshammar, Daniel, additional, Huang, Fenglei, additional, Albisetti, Manuela, additional, Brandão, Leonardo R., additional, Bomgaars, Lisa, additional, Chalmers, Elizabeth, additional, Halton, Jacqueline, additional, Luciani, Matteo, additional, Joseph, David, additional, Tartakovsky, Igor, additional, Gropper, Savion, additional, and Brueckmann, Martina, additional

Published
2022
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28. Emicizumab prophylaxis in haemophilia A with inhibitors: Three years follow‐up from the UK Haemophilia Centre Doctors' Organisation (UKHCDO).

Author

Wall, Caroline, Xiang, Hua, Palmer, Ben, Chalmers, Elizabeth, Chowdary, Pratima, Collins, Peter W., Fletcher, Simon, Hall, Georgina W., Hart, Daniel P., Mathias, Mary, Sartain, Paul, Shapiro, Susan, Stephensen, David, Talks, Kate, and Hay, Charles R.M.

Subjects
HEALTH facilities, EMICIZUMAB, PHYSICIANS, HEMOPHILIA, HEMOPHILIACS
Abstract

Introduction: The UK National Haemophilia Database (NHD) collects data from all UK persons with haemophilia A with inhibitors (PwHA‐I). It is well‐placed to investigate patient selection, clinical outcomes, drug safety and other issues not addressed in clinical trials of emicizumab. Aims: To determine safety, bleeding outcomes and early effects on joint health of emicizumab prophylaxis in a large, unselected cohort using national registry and patient reported Haemtrack (HT) data between 01 January 2018 and 30 September 2021. Methods: Prospectively collected bleeding outcomes were analysed in people with ≥6 months emicizumab HT data and compared with previous treatment if available. Change in paired Haemophilia Joint Health Scores (HJHS) were analysed in a subgroup. Adverse events (AEs) reports were collected and adjudicated centrally. Results: This analysis includes 117 PwHA‐I. Mean annualised bleeding rate (ABR) was.32 (95% CI,.18;.39) over a median 42 months treatment with emicizumab. Within‐person comparison (n = 74) demonstrated an 89% reduction in ABR after switching to emicizumab and an increase in zero treated bleed rate from 45 to 88% (p <.01). In a subgroup of 37 people, total HJHS improved in 36%, remained stable in 46% and deteriorated in 18%, with a median (IQR) within‐person change of −2.0 (−9, 1.5) (p =.04). Three arterial thrombotic events were reported, two possibly drug related. Other AEs were generally non‐severe and usually limited to early treatment, included cutaneous reactions (3.6%), headaches (1.4%), nausea (2.8%) and arthralgia (1.4%). Conclusions: Emicizumab prophylaxis is associated with sustained low bleeding rates and was generally well‐tolerated in people with haemophilia A and inhibitors. [ABSTRACT FROM AUTHOR]

Published
2023
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29. FVIII inhibitor development according to concentrate: data from the EUHASS registry excluding overlap with other studies

Author

Fischer, K., Iorio, A., Hollingsworth, R., Makris, M., Watson, Henry, Rae, Joan, Platokouki, Helen, Pergantou, Helen, Katsarou, Olga, Theodossiades, George, Nomikou, Efrosyni, Parra, Rafael, Alonso, Sofia, Klamroth, Robert, Kubicek, Cornelia, Wilde, Jonathan, Dunkley, Tracey, Oldenburg, Johannes, Schmickler, Daniela, Ackroyd, Sam, Mirza, Lubena, Batorova, Angelika, Jankovicova, Denisa, Auerswald, Günter, Buehrlen, Martina, Penka, Miroslav, Smejkal, Petr, Blatny, Jan, Zapletal, Ondrej, Hermans, Cedric, Lambert, Catherine, Tagariello, Giuseppe, Radossi, Paolo, Nolan, Beatrice, Brady, Bridin, O'Donnell, James, Singleton, Evelyn, Shea, Irma, Morfini, Massimo, Linari, Silvia, de Moerloose, Philippe, Boehlen, Francoise, Campbell Tait, R., Brodie, Nancy, Chalmers, Elizabeth, Gibson, Aileen, Meijer, Karina, Tamminga, Rienk, Lassila, Riitta, Armstrong, Elina, Zulfikar, Bulent, Ozdemir, Nihal, Kavakli, Kaan, Balkan, Can, Jurgutis, Romualdas, Gailiute, Neringa, Peerlinck, Kathelijne, Van Geet, Chris, Goudemand, Jenny, Wibaut, Bénédicte, Joao Diniz, Maria, Antunes, Margarida, Liesner, Ri, Khair, Kate, Laffan, Mike, Patel, Sanjay, Thynn Yee, Thynn, Harrington, Christine, Pasi, John, Bowles, Louise, Bevan, David, Madan, Bella, Negrier, Claude, Ringenbach, Stéphanie, Mingot Castellano, Maria Eva, Astermark, Jan, Lindvall, Karin, Gatt, Alexander, Hay, Charles RM, Grey, Paula, Will, Andrew, Hague, Allyson, Peyvandi, Flora, Mancuso, Maria Elisa, Schved, Jean Francois, Rousseau, Florence, Kurnik, Karin, Bidlingmaier, Christoph, Rocino, Angiola, Hanley, John, Talks, Kate, Antoniades, Marios, Zanon, Ezio, De Bon, Emiliano, Lambert, Thierry, Rothschild, Chantal, Matingou, Marcelline, Tagliaferri, Annarita, Rivolta, Gianna Franca, Marchesini, Emanuela, Fraga, Cristina, Cunha-Ribeiro, Luís, Carvalho, Manuela, Komrska, Vladimir, Pindurova, Ester, Lejniece, Sandra, Kluce, Gunta, Leebeek, Frank, Cnossen, Marjon, Lockley, Caryl, Payne, Jeanette, Vidler, Vicky, Lissitchkov, Toshko, Raia, Petrova, Holmström, Margareta, Garipidou, Vassileia, Vakalopoulou, Sofia, Serban, Margit, Mihailov, Maria-Delia, Schinco, Piercarla, Valeri, Federica, Schutgens, Roger, Bonanad, Santiago, Cid, Ana Rosa, Castaman, Giancarlo, Pabinger, Ingrid, Reitter, Sylvia-Elisabeth, Male, Christoph, Thom, Katharina, Windyga, Jerzy, Piorowski, Michal, Schmugge, Markus, and Albisetti, Manuela

Published
2016
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30. The COVID Whirlwind on the Veterinary World: End-of-life Care and Euthanasia During the COVID-19 Pandemic.

Author

Chalmers, Elizabeth, Gerstenblatt, Paula, and Hodgdon, River

Subjects
COVID-19 pandemic, EUTHANASIA, TERMINAL care, COVID-19, VETERINARY medicine, SECONDARY traumatic stress, JOB stress, PSYCHOLOGICAL burnout
Abstract

Veterinary providers experience job-specific psychological stress from their dual role in both providing medical care to pets and supporting pet-owner clients through end-of- life care and the euthanasia process, contributing to compassion fatigue and burnout in the field. COVID-19 has impacted the provision of veterinary care and affected communication between providers and pet owners. This qualitative study explores the experiences of veterinary providers who provided end-of- life care and performed euthanasia during the COVID-19 pandemic. Participants for this qualitative study were recruited and interviewed using criterion sampling from four veterinary practices in the northeastern United States. Inductive thematic analysis was used to interpret the data collected. Significant findings include: veterinary staff are overwhelmed by the spike in animal care due to increased pet ownership during COVID-19, changes in provision of care have created additional stressors in veterinary medicine, veterinary providers feel "emotionally distanced" from their clients, and veterinary providers recognize a need for increased mental health support in the field. [ABSTRACT FROM AUTHOR]

Published
2023
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32. Abstract 9192: Efficacy and Safety of Dabigatran in the Treatment and Secondary Prophylaxis of Children With Congenital Heart Disease

Author

Albisetti, Manuela, primary, Tartakovsky, Igor, additional, Halton, Jacqueline, additional, Bomgaars, Lisa, additional, Chalmers, Elizabeth, additional, Mitchell, Lesley, additional, Luciani, Matteo, additional, Nurmeev, Ildar, additional, Gorbatikov, Kirill, additional, Kleine, Eva, additional, Brueckmann, Martina, additional, and Brandao, Leonardo, additional

Published
2021
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33. Routine management, healthcare resource use and patient and carer‐reported outcomes of patients with transfusion‐dependent β‐thalassaemia in the United Kingdom: A mixed methods observational study

Author

Shah, Farrukh, primary, Telfer, Paul, additional, Velangi, Mark, additional, Pancham, Shivan, additional, Wynn, Robert, additional, Pollard, Sally, additional, Chalmers, Elizabeth, additional, Kell, Jonathan, additional, Carter, Angela M., additional, Hickey, Joe, additional, Paramore, Clark, additional, Jobanputra, Minesh, additional, and Ryan, Kate, additional

Published
2021
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35. sj-pdf-8-tah-10.1177_20406207211007058 – Supplemental material for Expert opinion on the UK standard of care for haemophilia patients with inhibitors: a modified Delphi consensus study

Author

Khair, Kate, Chalmers, Elizabeth, Thuvia Flannery, Griffiths, Annabel, Rowley, Felicity, Tobaruela, Guillermo, and Chowdary, Pratima

Subjects
FOS: Clinical medicine, Cardiology, 111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified, 111299 Oncology and Carcinogenesis not elsewhere classified
Abstract

Supplemental material, sj-pdf-8-tah-10.1177_20406207211007058 for Expert opinion on the UK standard of care for haemophilia patients with inhibitors: a modified Delphi consensus study by Kate Khair, Elizabeth Chalmers, Thuvia Flannery, Annabel Griffiths, Felicity Rowley, Guillermo Tobaruela and Pratima Chowdary in Therapeutic Advances in Hematology

Published
2021
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36. sj-pdf-4-tah-10.1177_20406207211007058 – Supplemental material for Expert opinion on the UK standard of care for haemophilia patients with inhibitors: a modified Delphi consensus study

Author

Khair, Kate, Chalmers, Elizabeth, Thuvia Flannery, Griffiths, Annabel, Rowley, Felicity, Tobaruela, Guillermo, and Chowdary, Pratima

Subjects
FOS: Clinical medicine, Cardiology, 111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified, 111299 Oncology and Carcinogenesis not elsewhere classified
Abstract

Supplemental material, sj-pdf-4-tah-10.1177_20406207211007058 for Expert opinion on the UK standard of care for haemophilia patients with inhibitors: a modified Delphi consensus study by Kate Khair, Elizabeth Chalmers, Thuvia Flannery, Annabel Griffiths, Felicity Rowley, Guillermo Tobaruela and Pratima Chowdary in Therapeutic Advances in Hematology

Published
2021
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37. sj-pdf-7-tah-10.1177_20406207211007058 – Supplemental material for Expert opinion on the UK standard of care for haemophilia patients with inhibitors: a modified Delphi consensus study

Author

Khair, Kate, Chalmers, Elizabeth, Thuvia Flannery, Griffiths, Annabel, Rowley, Felicity, Tobaruela, Guillermo, and Chowdary, Pratima

Subjects
FOS: Clinical medicine, Cardiology, 111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified, 111299 Oncology and Carcinogenesis not elsewhere classified
Abstract

Supplemental material, sj-pdf-7-tah-10.1177_20406207211007058 for Expert opinion on the UK standard of care for haemophilia patients with inhibitors: a modified Delphi consensus study by Kate Khair, Elizabeth Chalmers, Thuvia Flannery, Annabel Griffiths, Felicity Rowley, Guillermo Tobaruela and Pratima Chowdary in Therapeutic Advances in Hematology

Published
2021
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38. sj-pdf-9-tah-10.1177_20406207211007058 – Supplemental material for Expert opinion on the UK standard of care for haemophilia patients with inhibitors: a modified Delphi consensus study

Author

Khair, Kate, Chalmers, Elizabeth, Thuvia Flannery, Griffiths, Annabel, Rowley, Felicity, Tobaruela, Guillermo, and Chowdary, Pratima

Subjects
FOS: Clinical medicine, Cardiology, 111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified, 111299 Oncology and Carcinogenesis not elsewhere classified
Abstract

Supplemental material, sj-pdf-9-tah-10.1177_20406207211007058 for Expert opinion on the UK standard of care for haemophilia patients with inhibitors: a modified Delphi consensus study by Kate Khair, Elizabeth Chalmers, Thuvia Flannery, Annabel Griffiths, Felicity Rowley, Guillermo Tobaruela and Pratima Chowdary in Therapeutic Advances in Hematology

Published
2021
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39. sj-pdf-5-tah-10.1177_20406207211007058 – Supplemental material for Expert opinion on the UK standard of care for haemophilia patients with inhibitors: a modified Delphi consensus study

Author

Khair, Kate, Chalmers, Elizabeth, Thuvia Flannery, Griffiths, Annabel, Rowley, Felicity, Tobaruela, Guillermo, and Chowdary, Pratima

Subjects
FOS: Clinical medicine, Cardiology, 111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified, 111299 Oncology and Carcinogenesis not elsewhere classified
Abstract

Supplemental material, sj-pdf-5-tah-10.1177_20406207211007058 for Expert opinion on the UK standard of care for haemophilia patients with inhibitors: a modified Delphi consensus study by Kate Khair, Elizabeth Chalmers, Thuvia Flannery, Annabel Griffiths, Felicity Rowley, Guillermo Tobaruela and Pratima Chowdary in Therapeutic Advances in Hematology

Published
2021
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40. sj-pdf-6-tah-10.1177_20406207211007058 – Supplemental material for Expert opinion on the UK standard of care for haemophilia patients with inhibitors: a modified Delphi consensus study

Author

Khair, Kate, Chalmers, Elizabeth, Thuvia Flannery, Griffiths, Annabel, Rowley, Felicity, Tobaruela, Guillermo, and Chowdary, Pratima

Subjects
FOS: Clinical medicine, Cardiology, 111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified, 111299 Oncology and Carcinogenesis not elsewhere classified
Abstract

Supplemental material, sj-pdf-6-tah-10.1177_20406207211007058 for Expert opinion on the UK standard of care for haemophilia patients with inhibitors: a modified Delphi consensus study by Kate Khair, Elizabeth Chalmers, Thuvia Flannery, Annabel Griffiths, Felicity Rowley, Guillermo Tobaruela and Pratima Chowdary in Therapeutic Advances in Hematology

Published
2021
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42. Immune tolerance induction in severe haemophilia A: A UKHCDO inhibitor and paediatric working party consensus update

Author

Hart, Daniel P., primary, Alamelu, Jayanthi, additional, Bhatnagar, Neha, additional, Biss, Tina, additional, Collins, Peter W., additional, Hall, Georgina, additional, Hay, Charles, additional, Liesner, Ri, additional, Makris, Michael, additional, Mathias, Mary, additional, Motwani, Jayashree, additional, Palmer, Ben, additional, Payne, Jeanette, additional, Percy, Charles, additional, Richards, Michael, additional, Riddell, Anne, additional, Talks, Kate, additional, Tunstall, Oliver, additional, and Chalmers, Elizabeth, additional

Published
2021
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43. Haematological evaluation of bruising and bleeding in children undergoing child protection investigation for possible physical maltreatment: A British Society for Haematology Good Practice Paper.

Author

Biss, Tina, Sibson, Keith, Baker, Peter, Macartney, Christine, Grayson, Caroline, Grainger, John, Chalmers, Elizabeth, and Dixon, Sarah

Subjects
BRUISES, CHILD welfare, HEMORRHAGE, HEMATOLOGY, HEALTH facilities, MEDICAL personnel
Abstract

The presence of multiple bleeding symptoms and/or severe bleeding symptom(s) contribute to a higher score and therefore a greater chance of a bleeding disorder diagnosis. There is bleeding at a critical site (e.g., ICH, retinal haemorrhage, gastrointestinal haemorrhage, intraspinal haemorrhage, haemarthrosis) with no correlating history of trauma or other explanation that adequately accounts for the bleeding. ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders. A standardised bleeding assessment tool, e.g., the International Society for Haemostasis and Thrombosis Bleeding Assessment Tool (ISTH-BAT), can be used to quantitate bleeding symptoms in order to generate a bleeding score. [Extracted from the article]

Published
2022
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44. Publisher Correction:Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature, (2020), 583, 7814, (90-95), 10.1038/s41586-020-2265-1)

Author

Thaventhiran, James E.D., Lango Allen, Hana, Burren, Oliver S., Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H.R., Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J., Stephens, Jonathan, Deevi, Sri V.V., Sanchis-Juan, Alba, Gleadall, Nicholas S., Thomas, Moira J., Sargur, Ravishankar B., Gordins, Pavels, Baxendale, Helen E., Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel J., Buckland, Matthew S., Rayner-Matthews, Paula J., Gilmour, Kimberly C., Samarghitean, Crina, Seneviratne, Suranjith L., Sansom, David M., Lynch, Andy G., Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F., Karlsen, Tom H., Stirrups, Kathleen E., Cutler, Antony J., Kumararatne, Dinakantha S., Chandra, Anita, Edgar, J. David M., Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud P., Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Abbs, Stephen, Adhya, Zoe, Adlard, Julian, Afzal, Maryam, Ahmed, Irshad, Ahmed, Munaza, Ahmed, Saeed, Aitman, Timothy J., Alachkar, Hana, Alamelu, Jayanthi, Alikhan, Raza, Allen, Carl E., Allen, Louise, Allsup, David J., Alvi, Arif, Ambegaonkar, Gautam, Anantharachagan, Ariharan, Ancliff, Philip, Anderson, Julie, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Arumugakani, Gururaj, Arya, Rita, Ashford, Sofie, Astle, William J., Attwood, Anthony, Austin, Steve, Aydinok, Yesim, Ayub, Waqar, Babbs, Christian, Bacchelli, Chiara, Baglin, Trevor, Bakchoul, Tamam, Bariana, Tadbir K., Barratt, Jonathan, Barwell, Julian, Baski, John, Bates, Rachel W., Batista, Joana, Baynam, Gareth, Bennett, David L., Bethune, Claire, Bhatnagar, Neha, Bibi, Shahnaz, Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria A.K., Bleda, Marta, Blesneac, Iulia, Boardman, Barbara, Boddana, Preetham, Bogaard, Harm J., Booth, Claire, Boyce, Sara, Bradley, John R., Brady, Angela, Breen, Gerome, Brennan, Paul, Brewer, Carole, Briley, Annette, Brown, Richard, Browning, Michael J., Brownlie, Mary, Bryson, Christine J., Buchan, Rachel J., Buck, Jackie, Bueser, Teofila, Diz, Carmen Bugarin, Burns, Siobhan O., Calleja, Paul, Carmichael, Jenny, Carr-White, Gerald, Carss, Keren J., Casey, Ruth, Chalmers, Elizabeth, Chambers, Jenny, Chambers, John, Chan, Melanie M.Y., Chan, Melissa V., Cheng, Floria, Chinn, Ivan K., Chinnery, Patrick F., Chitre, Manali, Chong, Sam, Christian, Martin T., Church, Colin, Clement, Emma M., Brod, Naomi Clements, Clifford, Hayley, Clowes, Virginia E., Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor R.P., Collins, Janine H., Collins, Peter W., Condliffe, Robin, Cook, H. Terence, Cook, Stuart, Cookson, Victoria, Corris, Paul A., Creaser-Myers, Amanda, Crisp-Hihn, Abigail, Curry, Nicola S., Da Costa, Rosa, Danesino, Cesare, Daniels, Matthew J., Darby, Damaris, Daugherty, Louise C., Davies, E. G., Davies, Sophie, Davis, John, de Bree, Godelieve J., Deacock, Sarah, Deegan, Patrick B., Dempster, John, Dent, Timothy, Deshpande, Charu, Devlin, Lisa A., Dewhurst, Eleanor F., Dixit, Anand K., Dixon, Peter H., Doffinger, Rainer, Dolling, Helen, Dormand, Natalie, Downes, Kate, Drazyk, Anna M., Drewe, Elizabeth, Duarte, Daniel, Dutt, Tina, Edwards, Karen E., Egner, William, Ekani, Melanie N., El-Shanawany, Tariq, Elkhalifa, Shuayb, Elston, Tony, Emmerson, Ingrid, Erber, Wendy N., Erwood, Marie, Estiu, Maria C., Evans, Dafydd Gareth, Evans, Gillian, Everington, Tamara, Eyries, Mélanie, Favier, Remi, Firth, Helen V., Fitzpatrick, Maggie M., Fletcher, Debra, Flinter, Frances A., Fox, James C., Frary, Amy J., French, Courtney E., Freson, Kathleen, Frontini, Mattia, Furie, Bruce, Gale, Daniel P., Gall, Henning J., Gardham, Alice, Gaspar, H. Bobby, Gattens, Michael, Ghali, Neeti, Ghataorhe, Pavandeep K., Ghio, Stefano, Ghofrani, Hossein Ardeschir, Ghurye, Rohit, Gibbs, J. Simon R., Gilbert, Rodney D., Girerd, Barbara, Girling, Joanna C., Gissen, Paul, Gorman, Kathleen M., Gosal, David, Graf, Stefan, Grassi, Luigi, Greenhalgh, Alan J., Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip G., Griffiths, Sian, Grozeva, Detelina, Hackett, Scott J., Hadden, Robert D.M., Hadinnapola, Charaka, Hague, Rosie, Hague, William M., Haimel, Matthias, Hall, Matthew, Halmagyi, Csaba, Hammerton, Tracey, Hanson, Helen L., Harkness, Kirsty, Harper, Andrew R., Harper, Lorraine, Harris, Claire, Harrison, Claire, Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Heemskerk, Johan W.M., Hegde, Shivaram, Henderson, Alex, Henderson, Robert H., Hensiek, Anke, Henskens, Yvonne M.C., Hodgson, Joshua, Hoffman, Jonathan, Holden, Simon, Holder, Muriel, Horvath, Rita, Houlden, Henry, Houweling, Arjan C., Howard, Luke S., Hu, Fengyuan, Hudson, Gavin, Hughes, Sean, Hughes, Stephen, Huis in ‘t Veld, Anna E., Humbert, Marc, Hurles, Matthew E., Hurst, Jane A., Irvine, Val, Izatt, Louise, James, Roger, Jeevaratnam, Praveen, Johnson, Mark, Johnson, Sally A., Jolley, Jennifer D., Jones, Bryony, Jones, Julie, Josifova, Dragana, Jurkute, Neringa, Karim, Yousuf M., Karoshi, Mahantesh A., Kasanicki, Mary A., Kazkaz, Hanadi, Kazmi, Rashid, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kempster, Carly, Kennedy, Fiona, Kiani, Sorena, Kiely, David G., Kingston, Nathalie, Kinsey, Sally, Klein, Nigel, Klima, Robert, Knox, Ellen, Kostadima, Myrto A., Kovacs, Gabor, Koziell, Ania B., Kreuzhuber, Roman, Krishnakumar, Deepa, Kuijpers, Taco W., Kumar, Ajith, Kurian, Manju A., Laffan, James, Laffan, Michael A., Lalloo, Fiona, Lambert, Michele P., Lawman, Sarah H.A., Lawrie, Allan, Layton, D. Mark, Lear, Sara E., Lees, Melissa M., Lentaigne, Claire, Levine, Adam P., Lewington, Andrew J.P., Li, Wei, Liesner, Ri, Liu, Bin, Longhurst, Hilary, Lorenzo, Lorena E., Louka, Eleni, Hadeler, Silvia Lucato, Lyons, Paul A., Macdougall, Malcolm, Machado, Rajiv D., MacKenzie Ross, Robert V., Mackillop, Lucy H., MacLaren, Robert, Madan, Bella, Magee, Laura, Mahdi-Rogers, Mohamed, Maher, Eamonn R., Makris, Mike, Mangles, Sarah, Manson, Ania, Manzur, Adnan, Mapeta, Rutendo, Marchbank, Kevin J., Mark, Patrick B., Marks, Stephen, Markus, Hugh S., Marschall, Hanns Ulrich, Marshall, Andrew, Martin, Jennifer M., Masati, Larahmie, Mathias, Mary, Matser, Vera, Matthews, Emma L., Maw, Anna, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark I., McDermott, Elizabeth M., McGowan, Simon J., McJannet, Coleen, McKinney, Harriet, Meacham, Stuart, Mead, Adam J., Castello, Ignacio Medina, Meehan, Sharon, Mehta, Sarju, Mercer, Catherine L., Michaelides, Michel, Michell, Anna C., Milford, David, Millar, Carolyn M., Millar, Hazel, Mistry, Anoop, Moenen, Floor, Moledina, Shahin, Montani, David, Moore, Anthony T., Moore, Jason, Morrell, Nicholas W., Morrisson, Valerie, Mozere, Monika, Muir, Keith W., Mumford, Andrew D., Murng, Sai H.K., Nasir, Iman, Nejentsev, Sergey, Newnham, Michael, Ng, Joanne, Ngoh, Adeline, Noorani, Sadia, Noori, Muna, Nurden, Paquita, O’Sullivan, Jennifer M., Obaji, Samya, Okoli, Steven, Oksenhendler, Eric, Olschewski, Andrea, Olschewski, Horst, Ong, Albert C.M., Ong, Kai Ren, Oram, Helen, Ormondroyd, Elizabeth, Othman, Shokri, Ouwehand, Willem H., Pantazis, Antonis, Papadia, Sofia, Papandreou, Apostolos, Park, Soo Mi, Parker, Alasdair P.J., Parry, David, Parsons, Georgina, Pasi, K. John, Paterson, Joan, Payne, Jeanette H., Peacock, Andrew J., Peerlinck, Kathelijne, Pepke-Zaba, Joanna, Perry, David, Petersen, Romina, Piechowski-Jozwiak, Bartlomiej, Pinto, Fernando, Polwarth, Gary J., Ponsford, Mark J., Prasad, Sanjay, Prokopenko, Inga, Psaila, Beth, Pyle, Angela, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Raina, Sanjay, Ranganathan, Lavanya, Rankin, Julia, Rankin, Stuart, Rao, Anupama, Raymond, F. Lucy, Rehnstrom, Karola, Reid, Evan, Reilly, Mary M., Renton, Tara, Revel-Vilk, Shoshana, Rhodes, Christopher J., Rice, Andrew S.C., Richards, Emma E., Richards, Mike, Richardson, Sylvia, Richter, Alex, Robert, Leema, Roberts, Irene, Rondina, Matthew T., Rosser, Elisabeth, Rothwell, Peter, Roughley, Catherine, Roy, Noemi B., Rue-Albrecht, Kevin, Sadeghi-Alavijeh, Omid, Saleem, Moin A., Salmon, Richard M., Samani, Nilesh J., Sambrook, Jennifer G., Sandford, Richard, Santra, Saikat, Satchell, Simon C., Savic, Sinisa, Scelsi, Laura, Schotte, Gwen, Schulman, Sol, Schulze, Harald, Scott, Richard, Scully, Marie, Searle, Claire, Seeger, Werner, Sewell, W. A.Carrock, Seyres, Denis, Shackley, Fiona, Shamardina, Olga, Shapiro, Susan E., Sharma, Pankaj, Shehata, Hassan A., Shipley, Deborah, Shtoyerman, Rakefet, Sibson, Keith, Side, Lucy, Simpson, Michael, Sims, Matthew C., Sinha, Manish D., Sivapalaratnam, Suthesh, Skytte, Anne Bine, Smith, Kenneth G.C., Snape, Katie, Sneddon, Linda, Sohal, Aman, Soubrier, Florent, Southgate, Laura, Southwood, Mark, Splitt, Miranda, Staines, Simon, Stark, Hannah, Stauss, Hans, Steele, Cathal L., Stein, Daniel, Stein, Penelope E., Stock, Sophie, Stubbs, Matthew J., Suntharalingam, Jay, Swietlik, Emilia M., Symington, Emily, Tait, R. Campbell, Talks, Kate, Tan, Rhea Y.Y., Taylor, Gordon B., Thachil, Jecko, Themistocleous, Andreas C., Thomas, David C., Thomas, Ellen, Thomas, Patrick, Thompson, Dorothy A., Thomson, Kate, Thrasher, Adrian J., Thys, Chantal, Tilly, Tobias, Tischkowitz, Marc, Titterton, Catherine, Todd, John A., Toh, Cheng Hock, Tool, Anton T.J., Toshner, Mark R., Traylor, Matthew, Treacy, Carmen M., Treadaway, Paul, Trembath, Richard C., Trippier, Sarah, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Upton, Paul D., Urniaz, Rafal, Vale, Tom, Van Geet, Chris, van Zuydam, Natalie, Vandersteen, Anthony M., Vazquez-Lopez, Marta, Veltman, Marijcke W.M., Vogt, Julie, von Ziegenweidt, Julie, Noordegraaf, Anton Vonk, Vora, Ajay, Vries, Minka J.A., Wakeling, Emma L., Walker, Neil, Walker, Suellen M., Walsh, Roddy, Wanjiku, Ivy, Ware, James S., Warner, Timothy Q., Wassmer, Evangeline, Watkins, Hugh, Watson, Henry G., Watt, Christopher, Waugh, Dean, Webb, Nick, Webster, Andrew R., Wei, Wei, Welch, Angela, Welch, Steven B., Werring, David, Wessels, Julie, Westbury, Sarah K., Westwood, John Paul W., Wharton, John, Whitehorn, Deborah, Whitworth, James, Wilkins, Martin R., Willcocks, Lisa, Williams, David J., Williamson, Catherine, Wong, Edwin K.S., Wood, Nicholas, Wood, Yvette, Woods, Christopher Geoffrey, Woodward, Emma R., Workman, Sarita, Wort, Stephen J., Yates, Katherine, Yeatman, Nigel, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Yu-Wai-Man, Patrick, Zlamalova, Eliska, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, and ACS - Atherosclerosis & ischemic syndromes

Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Published
2020
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45. Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Author

Thaventhiran, James E. D., Lango Allen, Hana, Burren, Oliver S., Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H. R., Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J., Stephens, Jonathan, Deevi, Sri V. V., Sanchis-Juan, Alba, Gleadall, Nicholas S., Thomas, Moira J., Sargur, Ravishankar B., Gordins, Pavels, Baxendale, Helen E., Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel J., Buckland, Matthew S., Rayner-Matthews, Paula J., Gilmour, Kimberly C., Samarghitean, Crina, Seneviratne, Suranjith L., Sansom, David M., Lynch, Andy G., Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F., Karlsen, Tom H., Stirrups, Kathleen E., Cutler, Antony J., Kumararatne, Dinakantha S., Chandra, Anita, Edgar, J. David M., Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud P., Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Lyons, Paul A., Hurles, Matthew E., Savic, Sinisa, Burns, Siobhan O., Kuijpers, Taco W., Turro, Ernest, Ouwehand, Willem H., Thrasher, Adrian J., Smith, Kenneth G. C., Tait, R. Campbell, Chalmers, Elizabeth, Hague, Rosie, Maxwell, Heather, Peacock, Andrew J., Mark, Patrick B., and Muir, Keith W.

Abstract

Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic challenges. Although the most severe forms of PID are identified in early childhood, most patients present in adulthood, typically with no apparent family history and a variable clinical phenotype of widespread immune dysregulation: about 25% of patients have autoimmune disease, allergy is prevalent and up to 10% develop lymphoid malignancies1,2,3. Consequently, in sporadic (or non-familial) PID genetic diagnosis is difficult and the role of genetics is not well defined. Here we address these challenges by performing whole-genome sequencing in a large PID cohort of 1,318 participants. An analysis of the coding regions of the genome in 886 index cases of PID found that disease-causing mutations in known genes that are implicated in monogenic PID occurred in 10.3% of these patients, and a Bayesian approach (BeviMed4) identified multiple new candidate PID-associated genes, including IVNS1ABP. We also examined the noncoding genome, and found deletions in regulatory regions that contribute to disease causation. In addition, we used a genome-wide association study to identify loci that are associated with PID, and found evidence for the colocalization of—and interplay between—novel high-penetrance monogenic variants and common variants (at the PTPN2 and SOCS1 loci). This begins to explain the contribution of common variants to the variable penetrance and phenotypic complexity that are observed in PID. Thus, using a cohort-based whole-genome-sequencing approach in the diagnosis of PID can increase diagnostic yield and further our understanding of the key pathways that influence immune responsiveness in humans.

Published
2020

46. Dabigatran etexilate for the treatment of acute venous thromboembolism in children (DIVERSITY): a randomised, controlled, open-label, phase 2b/3, non-inferiority trial.

Author

UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique, Halton, Jacqueline, Brandão, Leonardo R, Luciani, Matteo, Bomgaars, Lisa, Chalmers, Elizabeth, Mitchell, Lesley G, Nurmeev, Ildar, Sharathkumar, Anjali, Svirin, Pavel, Gorbatikov, Kirill, Tartakovsky, Igor, Simetzberger, Monika, Huang, Fenglei, Sun, Zhichao, Kreuzer, Jörg, Gropper, Savion, Reilly, Paul, Brueckmann, Martina, Albisetti, Manuela, DIVERSITY Trial Investigators, Van Damme, An, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique, Halton, Jacqueline, Brandão, Leonardo R, Luciani, Matteo, Bomgaars, Lisa, Chalmers, Elizabeth, Mitchell, Lesley G, Nurmeev, Ildar, Sharathkumar, Anjali, Svirin, Pavel, Gorbatikov, Kirill, Tartakovsky, Igor, Simetzberger, Monika, Huang, Fenglei, Sun, Zhichao, Kreuzer, Jörg, Gropper, Savion, Reilly, Paul, Brueckmann, Martina, Albisetti, Manuela, DIVERSITY Trial Investigators, and Van Damme, An

Abstract

BACKGROUND: Dabigatran etexilate is a direct oral anticoagulant with potential to overcome the limitations of standard of care in children with venous thromboembolism. The aims of this clinical trial were to study the appropriateness of a paediatric dabigatran dosing algorithm, and the efficacy and safety of dabigatran dosed according to that algorithm versus standard of care in treating children with venous thromboembolism. METHODS: DIVERSITY is a randomised, controlled, open-label, parallel-group, phase 2b/3 non-inferiority trial done in 65 centres in 26 countries. Standard of care (low-molecular-weight heparins, unfractionated heparin, vitamin K antagonists or fondaparinux) was compared with a paediatric oral dabigatran dosing regimen (an age-adjusted and weight-adjusted nomogram) in children younger than 18 years with acute venous thromboembolism initially treated (5-21 days) with parenteral anticoagulation, requiring anticoagulation therapy for at least 3 months. Patients were randomised 1:2 (standard of care:dabigatran) and stratified by age (12 to <18 years, 2 to <12 years, and birth to <2 years) via interactive response technology. The primary composite efficacy endpoint (intention-to-treat analysis) was the proportion of children with complete thrombus resolution, and freedom from recurrent venous thromboembolism and venous thromboembolism-related death. A non-inferiority margin of absolute differences of 20% was used. Secondary endpoints included safety (determined by major bleeding events [time-to-event analysis on the treated set]), and pharmacokinetic-pharmacodynamic relationships (descriptive analyses). This trial is registered with ClinicalTrials.gov, NCT01895777 and is completed. FINDINGS: 328 children were enrolled between Feb 18, 2014, and Nov 14, 2019. 267 were randomly assigned (90 [34%] to standard of care and 177 [66%] to dabigatran) and included in the analyses. Median exposure to standard of care was 85·0 days (IQR 80·0-90·0) and to dabigatra

Published
2021

47. International pediatric thrombosis network to advance pediatric thrombosis research: Communication from the ISTH SSC subcommittee on pediatric and neonatal thrombosis and hemostasis

Author

van Ommen, Heleen, Albisetti, M, Bhatt, M, Bonduel, M, Branchford, Brian, Chalmers, Elizabeth, Chan, A, Goldenberg, NA, Holzhauer, S, Monagle, Paul, Nowak-Gottl, U, Revel-Vilk, Shoshana, Sciuccatie, Gabriela, Sirachainan, Nongnuch, Male, Christoph, van Ommen, Heleen, Albisetti, M, Bhatt, M, Bonduel, M, Branchford, Brian, Chalmers, Elizabeth, Chan, A, Goldenberg, NA, Holzhauer, S, Monagle, Paul, Nowak-Gottl, U, Revel-Vilk, Shoshana, Sciuccatie, Gabriela, Sirachainan, Nongnuch, and Male, Christoph

Abstract

Pediatric thromboembolism is a rare and heterogenous disease. As a result, there is a paucity of knowledge with regard to natural history, management, and outcomes of most types of pediatric venous and arterial thromboembolism. International research collaboration is needed to fill these knowledge gaps. Not only randomized controlled trials, but also representative observational studies are required to answer all research questions. Therefore, the ISTH SSC Subcommittee on Pediatric and Neonatal Thrombosis and Hemostasis initiated the International Pediatric Thrombosis Network (IPTN). The aims of the IPTN include (1) development of the Throm-PED registry to facilitate international prospective observational studies, and (2) establishment of a network of pediatric thrombosis centers experienced in effectively conducting clinical trials and observational studies. The IPTN needs dedicated clinicians all over the world and several funding sources to obtain high-quality research data to reach its ultimate goal of improving care in children with thrombosis. The aim of this communication is to call for active participation in the IPTN to all physicians taking care of children with thrombosis worldwide.

Published
2021

48. International pediatric thrombosis network to advance pediatric thrombosis research: Communication from the ISTH SSC subcommittee on pediatric and neonatal thrombosis and hemostasis

Author

van Ommen, C. Heleen, primary, Albisetti, Manuela, additional, Bhatt, Mohir, additional, Bonduel, Marianne, additional, Branchford, Brian, additional, Chalmers, Elizabeth, additional, Chan, Anthony, additional, Goldenberg, Neil A., additional, Holzhauer, Susanne, additional, Monagle, Paul, additional, Nowak‐Göttl, Ulrike, additional, Revel‐Vilk, Shoshana, additional, Sciuccatie, Gabriela, additional, Sirachainan, Nongnuch, additional, and Male, Christoph, additional

Published
2021
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