Low serum haptoglobin and blood films suggest intravascular hemolysis contributes to severe anemia in hereditary hemorrhagic telangiectasia

by Lieze Thielemans, D. Mark Layton, Claire L. Shovlin
Published 2019-04-01

P1479: COMORBIDITIES AND COMPLICATIONS IN ADULTS WITH PYRUVATE KINASE DEFICIENCY ACCORDING TO HEMOGLOBIN STRATA – A DESCRIPTIVE ANALYSIS FROM THE PEAK REGISTRY

by Dagmar Pospíŝilová, Rachael F. Grace, Andreas Glenthøj, Carl Lander, Eduard van Beers, Bertil Glader, Mark Layton, Kevin H.M. Kuo, Juan-Luis Vives-Corrons, Yan Yan, Bryan Mcgee, Sara Higa, Paola Bianchi
Published 2023-08-01

Bone mineral density in adult patients with pyruvate kinase deficiency on long-term mitapivat treatment

by Hanny Al-Samkari, Rachael F. Grace, Andreas Glenthøj, Oliver Andres, Wilma Barcellini, Frédéric Galacteros, Kevin H. M. Kuo, D. Mark Layton, Marta Morado, Vip Viprakasit, Feng Tai, Rolandas Urbstonaitis, Jaime Morales, Bryan McGee, Eduard J. van Beers
Published 2023-09-01

P1473: CLINICALLY RELEVANT HEMOGLOBIN RESPONSE IN ADULTS WITH PYRUVATE KINASE DEFICIENCY TREATED WITH MITAPIVAT – A SUB-ANALYSIS OF THE ACTIVATE TRIAL

by Hanny Al-Samkari, Rachael F. Grace, Andreas Glenthøj, Wilma Barcellini, Madeleine Verhovsek, Jennifer A. Rothman, Marta Morado, Mark Layton, Oliver Andres, Frédéric Galactéros, Koichi Onodera, Satheesh Chonat, Rengyi Xu, Bryan Mcgee, Melissa Dibacco, Jaime Morales, Eduard van Beers
Published 2023-08-01

The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design

by Yan Yan, Junlong Li, D Mark Layton, Rachael F Grace, Vip Viprakasit, Eduard J van Beers, Joan-Lluis Vives Corrons, Bertil Glader, Andreas Glenthøj, Hitoshi Kanno, Kevin H M Kuo, Carl Lander, Dagmar Pospíŝilová, Audra N Boscoe, Chris Bowden, Paola Bianchi
Published 2023-03-01

Individual Watershed Areas in Sickle Cell Anemia: An Arterial Spin Labeling Study

by Hanne Stotesbury, Patrick W. Hales, Anna M. Hood, Melanie Koelbel, Jamie M. Kawadler, Dawn E. Saunders, Sati Sahota, David C. Rees, Olu Wilkey, Mark Layton, Maria Pelidis, Baba P. D. Inusa, Jo Howard, Subarna Chakravorty, Chris A. Clark, Fenella J. Kirkham
Published 2022-05-01

Mutation of von Hippel-Lindau tumour suppressor and human cardiopulmonary physiology.

by Thomas G Smith, Jerome T Brooks, George M Balanos, Terence R Lappin, D Mark Layton, Dawn L Leedham, Chun Liu, Patrick H Maxwell, Mary F McMullin, Christopher J McNamara, Melanie J Percy, Christopher W Pugh, Peter J Ratcliffe, Nick P Talbot, Marilyn Treacy, Peter A Robbins
Published 2006-07-01

The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper

by Noémi B. A. Roy, Lydie Da Costa, Roberta Russo, Paola Bianchi, Maria del Mar Mañú-Pereira, Elisa Fermo, Immacolata Andolfo, Barnaby Clark, Melanie Proven, Mayka Sanchez, Richard van Wijk, Bert van der Zwaag, Mark Layton, David Rees, Achille Iolascon, on behalf of the British Society for Haematology and the European Hematology Association
Published 2022-06-01

Quantification of Silent Cerebral Infarction on High-Resolution FLAIR and Cognition in Sickle Cell Anemia

by Hanne Stotesbury, Jamie M. Kawadler, Jonathan D. Clayden, Dawn E. Saunders, Anna M. Hood, Anna M. Hood, Melanie Koelbel, Sati Sahota, David C. Rees, Olu Wilkey, Mark Layton, Maria Pelidis, Baba P. D. Inusa, Jo Howard, Subarna Chakravorty, Chris A. Clark, Fenella J. Kirkham, Fenella J. Kirkham
Published 2022-06-01

Reference and point-of-care testing for G6PD deficiency: Blood disorder interference, contrived specimens, and fingerstick equivalence and precision.

by Sampa Pal, Jane Myburgh, Pooja Bansil, Amanda Hann, Lynn Robertson, Emily Gerth-Guyette, Gwen Ambler, Greg Bizilj, Maria Kahn, Stephanie Zobrist, Michelle R Manis, Nickolas A Styke, Vajra Allan, Richard Ansbro, Tobi Akingbade, Andrew Bryan, Sean C Murphy, James G Kublin, Mark Layton, Gonzalo J Domingo
Published 2021-01-01

Clinical performance validation of the STANDARD G6PD test: A multi-country pooled analysis.

by Wondimagegn Adissu, Marcelo Brito, Eduardo Garbin, Marcela Macedo, Wuelton Monteiro, Sandip Kumar Mukherjee, Jane Myburg, Mohammad Shafiul Alam, Germana Bancone, Pooja Bansil, Sampa Pal, Abhijit Sharma, Stephanie Zobrist, Andrew Bryan, Cindy S Chu, Santasabuj Das, Gonzalo J Domingo, Amanda Hann, James Kublin, Marcus V G Lacerda, Mark Layton, Benedikt Ley, Sean C Murphy, Francois Nosten, Dhélio Pereira, Ric N Price, Arunansu Talukdar, Daniel Yilma, Emily Gerth-Guyette
Published 2023-10-01

Real-time national survey of COVID-19 in hemoglobinopathy and rare inherited anemia patients

by Paul Telfer, Josu de la Fuente, Mamta Sohal, Ralph Brown, Perla Eleftheriou, Noémi Roy, Frédéric B. Piel, Subarna Chakravorty, Kate Gardner, Mark Velangi, Emma Drasar, Farrukh Shah, John B. Porter, Sara Trompeter, Wale Atoyebi, Richard Szydlo, Kofi A. Anie, Kate Ryan, Joseph Sharif, Josh Wright, Emma Astwood, C. Sarah Nicolle, Amy Webster, David J. Roberts, Sanne Lugthart, Banu Kaya, Moji Awogbade, David C. Rees, Rob Hollingsworth, Baba Inusa, Jo Howard, D. Mark Layton
Published 2020-09-01

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

by Ana Rio-Machin, Tom Vulliamy, Nele Hug, Amanda Walne, Kiran Tawana, Shirleny Cardoso, Alicia Ellison, Nikolas Pontikos, Jun Wang, Hemanth Tummala, Ahad Fahad H. Al Seraihi, Jenna Alnajar, Findlay Bewicke-Copley, Hannah Armes, Michael Barnett, Adrian Bloor, Csaba Bödör, David Bowen, Pierre Fenaux, Andrew Green, Andrew Hallahan, Henrik Hjorth-Hansen, Upal Hossain, Sally Killick, Sarah Lawson, Mark Layton, Alison M. Male, Judith Marsh, Priyanka Mehta, Rogier Mous, Josep F. Nomdedéu, Carolyn Owen, Jiri Pavlu, Elspeth M. Payne, Rachel E. Protheroe, Claude Preudhomme, Nuria Pujol-Moix, Aline Renneville, Nigel Russell, Anand Saggar, Gabriela Sciuccati, David Taussig, Cynthia L. Toze, Anne Uyttebroeck, Peter Vandenberghe, Brigitte Schlegelberger, Tim Ripperger, Doris Steinemann, John Wu, Joanne Mason, Paula Page, Susanna Akiki, Kim Reay, Jamie D. Cavenagh, Vincent Plagnol, Javier F. Caceres, Jude Fitzgibbon, Inderjeet Dokal
Published 2020-02-01

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

by Farmery, James H. R., Smith, Mike L., Huissoon, Aarnoud, Furnell, Abigail, Mead, Adam, Levine, Adam P., Manzur, Adnan, Thrasher, Adrian, Greenhalgh, Alan, Parker, Alasdair, Sanchis-Juan, Alba, Richter, Alex, Gardham, Alice, Lawrie, Allan, Sohal, Aman, Creaser-Myers, Amanda, Frary, Amy, Greinacher, Andreas, Themistocleous, Andreas, Peacock, Andrew J., Marshall, Andrew, Mumford, Andrew, Rice, Andrew, Webster, Andrew, Brady, Angie, Koziell, Ania, Manson, Ania, Chandra, Anita, Hensiek, Anke, Veld, Anna Huis in’t, Maw, Anna, Kelly, Anne M., Moore, Anthony, Vonk Noordegraaf, Anton, Attwood, Antony, Herwadkar, Archana, Ghofrani, Ardi, Houweling, Arjan C., Girerd, Barbara, Furie, Bruce, Treacy, Carmen M., Millar, Carolyn M., Sewell, Carrock, Roughley, Catherine, Titterton, Catherine, Williamson, Catherine, Hadinnapola, Charaka, Deshpande, Charu, Toh, Cheng-Hock, Bacchelli, Chiara, Patch, Chris, Geet, Chris Van, Babbs, Christian, Bryson, Christine, Penkett, Christopher J., Rhodes, Christopher J., Watt, Christopher, Bethune, Claire, Booth, Claire, Lentaigne, Claire, McJannet, Coleen, Church, Colin, French, Courtney, Samarghitean, Crina, Halmagyi, Csaba, Gale, Daniel, Greene, Daniel, Hart, Daniel, Allsup, David, Bennett, David, Edgar, David, Kiely, David G., Gosal, David, Perry, David J., Keeling, David, Montani, David, Shipley, Debbie, Whitehorn, Deborah, Fletcher, Debra, Krishnakumar, Deepa, Grozeva, Detelina, Kumararatne, Dinakantha, Thompson, Dorothy, Josifova, Dragana, Maher, Eamonn, Wong, Edwin K. S., Murphy, Elaine, Dewhurst, Eleanor, Louka, Eleni, Rosser, Elisabeth, Chalmers, Elizabeth, Colby, Elizabeth, Drewe, Elizabeth, McDermott, Elizabeth, Thomas, Ellen, Staples, Emily, Clement, Emma, Matthews, Emma, Wakeling, Emma, Oksenhendler, Eric, Turro, Ernest, Reid, Evan, Wassmer, Evangeline, Raymond, F. Lucy, Hu, Fengyuan, Kennedy, Fiona, Soubrier, Florent, Flinter, Frances, Kovacs, Gabor, Polwarth, Gary, Ambegaonkar, Gautum, Arno, Gavin, Hudson, Gavin, Woods, Geoff, Coghlan, Gerry, Hayman, Grant, Arumugakani, Gururaj, Schotte, Gwen, Cook, H. Terry, Alachkar, Hana, Lango Allen, Hana, Lango-Allen, Hana, Stark, Hannah, Stauss, Hans, Schulze, Harald, Boggard, Harm J., Baxendale, Helen, Dolling, Helen, Firth, Helen, Gall, Henning, Watson, Henry, Longhurst, Hilary, Markus, Hugh S., Watkins, Hugh, Simeoni, Ilenia, Emmerson, Ingrid, Roberts, Irene, Quinti, Isabella, Wanjiku, Ivy, Gibbs, J. Simon R., Thaventhiran, James, Whitworth, James, Hurst, Jane, Collins, Janine, Suntharalingam, Jay, Payne, Jeanette, Thachil, Jecko, Martin, Jennifer M., Martin, Jennifer, Carmichael, Jenny, Maimaris, Jesmeen, Paterson, Joan, Pepke-Zaba, Joanna, Heemskerk, Johan W. M., Gebhart, Johanna, Davis, John, Pasi, John, Bradley, John R., Wharton, John, Stephens, Jonathan, Rankin, Julia, Anderson, Julie, Vogt, Julie, von Ziegenweldt, Julie, Rehnstrom, Karola, Megy, Karyn, Talks, Kate, Peerlinck, Kathelijne, Yates, Katherine, Freson, Kathleen, Stirrups, Kathleen, Gomez, Keith, Smith, Kenneth G. C., Carss, Keren, Rue-Albrecht, Kevin, Gilmour, Kimberley, Masati, Larahmie, Scelsi, Laura, Southgate, Laura, Ranganathan, Lavanya, Ginsberg, Lionel, Devlin, Lisa, Willcocks, Lisa, Ormondroyd, Liz, Lorenzo, Lorena, Harper, Lorraine, Allen, Louise, Daugherty, Louise, Chitre, Manali, Kurian, Manju, Humbert, Marc, Tischkowitz, Marc, Bitner-Glindzicz, Maria, Erwood, Marie, Scully, Marie, Veltman, Marijke, Caulfield, Mark, Layton, Mark, McCarthy, Mark, Ponsford, Mark, Toshner, Mark, Bleda, Marta, Wilkins, Martin, Mathias, Mary, Reilly, Mary, Afzal, Maryam, Brown, Matthew, Rondina, Matthew, Stubbs, Matthew, Haimel, Matthias, Lees, Melissa, Laffan, Michael A., Browning, Michael, Gattens, Michael, Richards, Michael, Michaelides, Michel, Lambert, Michele P., Makris, Mike, De Vries, Minka, Mahdi-Rogers, Mohamed, Saleem, Moin, Thomas, Moira, Holder, Muriel, Eyries, Mélanie, Clements-Brod, Naomi, Canham, Natalie, Dormand, Natalie, Zuydam, Natalie Van, Kingston, Nathalie, Ghali, Neeti, Cooper, Nichola, Morrell, Nicholas W., Yeatman, Nigel, Roy, Noémi, Shamardina, Olga, Alavijeh, Omid S., Gresele, Paolo, Nurden, Paquita, Chinnery, Patrick, Deegan, Patrick, Yong, Patrick, Man, Patrick Yu Wai, Corris, Paul A., Calleja, Paul, Gissen, Paul, Bolton-Maggs, Paula, Rayner-Matthews, Paula, Ghataorhe, Pavandeep K., Gordins, Pavel, Stein, Penelope, Collins, Peter, Dixon, Peter, Kelleher, Peter, Ancliff, Phil, Yu, Ping, Tait, R. Campbell, Linger, Rachel, Doffinger, Rainer, Machado, Rajiv, Kazmi, Rashid, Sargur, Ravishankar, Favier, Remi, Tan, Rhea, Liesner, Ri, Antrobus, Richard, Sandford, Richard, Scott, Richard, Trembath, Richard, Horvath, Rita, Hadden, Rob, MackenzieRoss, Rob V., Henderson, Robert, MacLaren, Robert, James, Roger, Ghurye, Rohit, DaCosta, Rosa, Hague, Rosie, Mapeta, Rutendo, Armstrong, Ruth, Noorani, Sadia, Murng, Sai, Santra, Saikat, Tuna, Salih, Johnson, Sally, Chong, Sam, Lear, Sara, Walker, Sara, Goddard, Sarah, Mangles, Sarah, Westbury, Sarah, Mehta, Sarju, Hackett, Scott, Nejentsev, Sergey, Moledina, Shahin, Bibi, Shahnaz, Meehan, Sharon, Othman, Shokri, Revel-Vilk, Shoshana, Holden, Simon, McGowan, Simon, Staines, Simon, Savic, Sinisa, Burns, Siobhan, Grigoriadou, Sofia, Papadia, Sofia, Ashford, Sofie, Schulman, Sol, Ali, Sonia, Park, Soo-Mi, Davies, Sophie, Stock, Sophie, Ali, Souad, Deevi, Sri V. V., Gräf, Stefan, Ghio, Stefano, Wort, Stephen J., Jolles, Stephen, Austin, Steve, Welch, Steve, Meacham, Stuart, Rankin, Stuart, Walker, Suellen, Seneviratne, Suranjith, Holder, Susan, Sivapalaratnam, Suthesh, Richardson, Sylvia, Kuijpers, Taco, Kuijpers, Taco W., Bariana, Tadbir K., Bakchoul, Tamam, Everington, Tamara, Renton, Tara, Young, Tim, Aitman, Timothy, Warner, Timothy Q., Vale, Tom, Hammerton, Tracey, Pollock, Val, Matser, Vera, Cookson, Victoria, Clowes, Virginia, Qasim, Waseem, Wei, Wei, Erber, Wendy N., Ouwehand, Willem H., Astle, William, Egner, William, Turek, Wojciech, Henskens, Yvonne, Tan, Yvonne, Lynch, Andy G.
Published 2018