BetterScholar BetterScholar
10
Role
Title
Level Year L/R
🐜 Whole-genome sequencing of patients with rare diseases in a national health system
452 auth. E. Turro, W. Astle, K. Megy, S. Gräf, D. Greene, O. Shamardina, H. L. Allen, Alba Sanchis-Juan, M. Frontini, C. Thys, J. Stephens, R. Mapeta, O. Burren, K. Downes, M. Haimel, ... Salih Tuna, Sri V. V. Deevi, T. Aitman, David L. Bennett, P. Calleja, K. Carss, M. Caulfield, P. Chinnery, P. Dixon, D. Gale, R. James, A. Koziell, M. Laffan, A. Levine, E. Maher, H. Markus, Joannella Morales, N. Morrell, A. Mumford, E. Ormondroyd, Stuart Rankin, A. Rendon, S. Richardson, I. Roberts, N. Roy, M. Saleem, Kenneth G. C. Smith, H. Stark, R. Tan, Andreas C Themistocleous, A. Thrasher, H. Watkins, A. Webster, M. Wilkins, C. Williamson, J. Whitworth, S. Humphray, D. Bentley, S. Abbs, L. Abulhoul, J. Adlard, Munaza Ahmed, H. Alachkar, D. Allsup, J. Almeida-King, P. Ancliff, R. Antrobus, R. Armstrong, G. Arno, Sofie Ashford, A. Attwood, P. Aurora, C. Babbs, C. Bacchelli, T. Bakchoul, S. Banka, T. Bariana, J. Barwell, Joana Batista, H. Baxendale, P. Beales, A. Bierzynska, T. Biss, M. Bitner-Glindzicz, G. Black, M. Bleda, Iulia Blesneac, D. Bockenhauer, H. Bogaard, Christian J. Bourne, S. Boyce, J. Bradley, E. Bragin, G. Breen, P. Brennan, C. Brewer, Matthew Brown, A. Browning, M. Browning, R. Buchan, M. Buckland, T. Bueser, Carmen Bugarin Diz, J. Burn, S. Burns, N. Burrows, Carolyn Campbell, G. Carr-White, R. Casey, Jenny Chambers, John Chambers, M. Chan, Calvin Cheah, F. Cheng, M. Chitre, M. Christian, C. Church, J. Clayton-Smith, M. Cleary, Naomi Clements Brod, G. Coghlan, Elizabeth Colby, T. Cole, J. Collins, P. Collins, Camilla Colombo, C. Compton, R. Condliffe, S. Cook, H. Cook, Nichola H Cooper, P. Corris, A. Furnell, Fiona Cunningham, N. Curry, A. Cutler, M. Daniels, M. Dattani, L. Daugherty, John Davis, A. De Soyza, Timothy Dent, C. Deshpande, Eleanor F. Dewhurst, S. Douzgou, A. Drazyk, E. Drewe, Daniel Duarte, T. Dutt, J. Edgar, Karen E. Edwards, W. Egner, Melanie N. Ekani, P. Elliott, W. Erber, M. Erwood, M. Estiú, D. G. Evans, G. Evans, T. Everington, M. Eyries, H. Fassihi, R. Favier, J. Findhammer, Debra Fletcher, F. Flinter, R. Floto, T. Fowler, James C. Fox, Amy J. Frary, Courtney E. French, K. Freson, H. Gall, V. Ganesan, M. Gattens, C. Geoghegan, Terence S. A. Gerighty, A. Gharavi, S. Ghio, H. Ghofrani, J. Gibbs, Kate Gibson, K. Gilmour, B. Girerd, Nicholas S. Gleadall, S. Goddard, D. Goldstein, K. Gomez, Pavels Gordins, D. Gosal, J. Graham, L. Grassi, L. Greenhalgh, A. Greinacher, P. Gresele, P. Griffiths, S. Grigoriadou, R. Grocock, D. Grozeva, M. Gurnell, S. Hackett, C. Hadinnapola, W. Hague, R. Hague, M. Hall, H. Hanson, Eshika Haque, K. Harkness, A. Harper, Claire L. Harris, D. Hart, Ahamad Hassan, G. Hayman, A. Henderson, A. Herwadkar, Jonathan Hoffman, S. Holden, R. Horvath, H. Houlden, A. Houweling, L. Howard, Fengyuan Hu, G. Hudson, J. Hughes, A. Huissoon, M. Humbert, Sarah Hunter, Matthew Hurles, M. Irving, L. Izatt, Sally A. Johnson, S. Jolles, J. Jolley, D. Josifova, Neringa Jurkute, Tim Karten, J. Karten, Mary A. Kasanicki, H. Kazkaz, R. Kazmi, P. Kelleher, A. Kelly, W. Kelsall, Carly Kempster, D. Kiely, N. Kingston, R. Klima, Nils Koelling, Myrto A. Kostadima, G. Kovacs, Roman Kreuzhuber, T. Kuijpers, Ajith Kumar, D. Kumararatne, M. Kurian, F. Lalloo, Michele P. Lambert, A. Lawrie, D. M. Layton, N. Lench, C. Lentaigne, T. Lester, R. Linger, H. Longhurst, Lorena E. Lorenzo, E. Louka, P. Lyons, R. Machado, R. M. MacKenzie Ross, B. Madan, Jesmeen Maimaris, S. Malka, S. Mangles, K. Marchbank, S. Marks, H. Marschall, Andrew Marshall, Jennifer M. Martin, M. Mathias, E. Matthews, H. Maxwell, P. Mcalinden, Mark I. McCarthy, H. McKinney, A. McMahon, Stuart Meacham, A. Mead, Ignacio Castelló, S. Mehta, M. Michaelides, C. Millar, S. Mohammed, S. Moledina, D. Montani, A. Moore, M. Mozere, K. Muir, A. Nemeth, W. G. Newman, M. Newnham, S. Noorani, P. Nurden, J. O'Sullivan, S. Obaji, C. Odhams, S. Okoli, A. Olschewski, H. Olschewski, K. Ong, S. Oram, W. Ouwehand, C. Palles, S. Papadia, Soo-Mi Park, D. Parry, Smita Y. Patel, J. Paterson, A. Peacock, S. H. Pearce, J. Peden, K. Peerlinck, C. Penkett, J. Pepke-Zaba, Romina Petersen, C. Pilkington, Ken Poole, Radhika Prathalingam, B. Psaila, A. Pyle, R. Quinton, S. Rahman, A. Rao, F. Raymond, Paula Rayner-Matthews, Christine Rees, T. Renton, Christopher J. Rhodes, Andrew S C Rice, A. Richter, L. Robert, Anthony Rogers, S. Rose, R. Ross-Russell, Catherine Roughley, D. Ruddy, O. Sadeghi-Alavijeh, N. Samani, C. Samarghitean, R. Sargur, R. Sarkany, S. Satchell, S. Savic, J. Sayer, G. Sayer, L. Scelsi, A. Schaefer, Sol Schulman, R. Scott, M. Scully, C. Searle, W. Seeger, Arjune Sen, W. Sewell, Denis Seyres, N. Shah, S. Shapiro, A. Shaw, Patrick J. Short, Keith R Sibson, L. Side, Ilenia Simeoni, Michael Simpson, M. C. Sims, S. Sivapalaratnam, D. Smedley, Katherine R. Smith, K. Snape, N. Soranzo, F. Soubrier, L. Southgate, O. Spasic-Boskovic, Simon Staines, E. Staples, C. Steward, K. Stirrups, A. Stuckey, J. Suntharalingam, E. Swietlik, P. Syrris, R. Tait, K. Talks, Katie Tate, John M. Taylor, Jenny C. Taylor, James E. D. Thaventhiran, E. Thomas, D. Thomas, Moira J. Thomas, Patrick Thomas, K. Thomson, Glen Threadgold, T. Tilly, M. Tischkowitz, Catherine Titterton, J. Todd, C. Toh, B. Tolhuis, I. Tomlinson, M. Toshner, M. Traylor, C. Treacy, Paul Treadaway, R. Trembath, Wojciech Turek, E. Turro, Philip Twiss, Tom A Vale, C. Geet, N. Zuydam, Maarten Vandekuilen, A. Vandersteen, Marta Vazquez-Lopez, J. von Ziegenweidt, A. Vonk Noordegraaf, Annette Wagner, Q. Waisfisz, S. Walker, Neil E. Walker, Klaudia Walter, J. Ware, C. Watt, L. Wedderburn, Wei Wei, S. Welch, Julie Wessels, S. Westbury, J. Westwood, J. Wharton, Deborah Whitehorn, A. Wilkie, Brian T. Wilson, E. Wong, N. Wood, Y. Wood, C. Woods, E. Woodward, S. Wort, A. Worth, Michael Wright, Katherine Yates, P. Yong, Tim Young, Ping Yu, P. Yu-Wai-Man, Eliska Zlamalova, F. Raymond, W. Ouwehand
8 2020
8
🐜
🦁 Clinical features and outcome of pulmonary embolism in children
T. Biss, L. Brandão, W. Kahr, Anthony K. C. Chan, Suzan Williams
7 2008
7
🦁
🐜 Rivaroxaban compared with standard anticoagulants for the treatment of acute venous thromboembolism in children: a randomised, controlled, phase 3 trial.
39 auth. C. Male, A. Lensing, J. Palumbo, Riten Kumar, I. Nurmeev, Kerry M Hege, D. Bonnet, P. Connor, H. L. Hooimeijer, M. Torres, Anthony K. C. Chan, G. Kenet, S. Holzhauer, A. Santamaría, P. Amedro, ... E. Chalmers, P. Simioni, R. Bhat, D. Yee, O. Lvova, J. Beyer-Westendorf, T. Biss, I. Martinelli, P. Saracco, M. Peters, K. Kállay, Cynthia A. Gauger, M. Massicotte, G. Young, Á. Pap, Madhurima Majumder, William T. Smith, J. Heubach, S. Berkowitz, K. Thelen, D. Kubitza, M. Crowther, M. Prins, P. Monagle
7 2019
7
🐜
🐜 Whole genome sequencing of a sporadic primary immunodeficiency cohort
602 auth. James E. D. Thaventhiran, Hana Lango Allen, O. Burren, W. Rae, D. Greene, E. Staples, Zinan Zhang, J. H. Farmery, Ilenia Simeoni, E. Rivers, Jesmeen Maimaris, C. Penkett, J. Stephens, Sri V. V. Deevi, Alba Sanchis-Juan, ... Nicholas S. Gleadall, Moira J. Thomas, R. Sargur, Pavels Gordins, H. Baxendale, Matthew Brown, P. Tuijnenburg, A. Worth, S. Hanson, R. Linger, M. Buckland, Paula Rayner-Matthews, K. Gilmour, C. Samarghitean, S. Seneviratne, D. Sansom, A. Lynch, K. Megy, E. Ellinghaus, D. Ellinghaus, S. Jørgensen, T. Karlsen, K. Stirrups, A. Cutler, D. Kumararatne, Anita Chandra, J. D. Edgar, A. Herwadkar, Nichola H Cooper, S. Grigoriadou, A. Huissoon, S. Goddard, S. Jolles, C. Schuetz, Felix Boschann, S. Abbs, Z. Adhya, J. Adlard, M. Afzal, I. Ahmed, Munaza Ahmed, Saeed Ahmed, T. Aitman, H. Alachkar, J. Alamelu, R. Alikhan, C. Allen, L. Allen, D. Allsup, Arif Alvi, G. Ambegaonkar, A. Anantharachagan, P. Ancliff, Julie Anderson, R. Antrobus, R. Armstrong, G. Arno, G. Arumugakani, R. Arya, Sofie Ashford, W. Astle, A. Attwood, S. Austin, Y. Aydinok, Waqar Ayub, C. Babbs, C. Bacchelli, T. Baglin, T. Bakchoul, T. Bariana, J. Barratt, J. Barwell, John Baski, R. Bates, Joana Batista, G. Baynam, David L. Bennett, C. Bethune, N. Bhatnagar, Shahnaz Bibi, A. Bierzynska, T. Biss, M. Bitner-Glindzicz, M. Bleda, Iulia Blesneac, Barbara Boardman, P. Boddana, H. Bogaard, C. Booth, S. Boyce, J. Bradley, A. Brady, G. Breen, P. Brennan, C. Brewer, A. Briley, Richard Brown, M. Browning, M. Brownlie, Christine J. Bryson, R. Buchan, J. Buck, M. Buckland, T. Bueser, Carmen Bugarin Diz, S. Burns, P. Calleja, J. Carmichael, G. Carr-White, K. Carss, R. Casey, E. Chalmers, Jenny Chambers, John Chambers, M. Chan, Melissa V. Chan, F. Cheng, Ivan K. Chinn, P. Chinnery, M. Chitre, S. Chong, M. Christian, C. Church, E. Clement, Naomi Clements Brod, H. Clifford, V. Clowes, G. Coghlan, Elizabeth Colby, T. Cole, J. Collins, P. Collins, R. Condliffe, H. Cook, S. Cook, V. Cookson, P. Corris, A. Creaser-Myers, Abigail Crisp-Hihn, N. Curry, Rosa Da Costa, C. Danesino, M. Daniels, D. Darby, L. Daugherty, E. Davies, Sophie Davies, John Davis, G. D. de Bree, S. Deacock, P. Deegan, Sri V. V. Deevi, J. Dempster, Timothy Dent, C. Deshpande, L. Devlin, Eleanor F. Dewhurst, A. Dixit, P. Dixon, R. Doffinger, H. Dolling, N. Dormand, K. Downes, A. Drazyk, E. Drewe, Daniel Duarte, T. Dutt, Karen E. Edwards, W. Egner, Melanie N. Ekani, T. El-shanawany, S. Elkhalifa, T. Elston, I. Emmerson, W. Erber, M. Erwood, M. Estiú, D. G. Evans, G. Evans, T. Everington, M. Eyries, R. Favier, H. Firth, Maggie M. Fitzpatrick, Debra Fletcher, F. Flinter, James C. Fox, Amy J. Frary, Courtney E. French, K. Freson, M. Frontini, B. Furie, D. Gale, H. Gall, A. Gardham, H. Gaspar, M. Gattens, N. Ghali, P. Ghataorhe, S. Ghio, H. Ghofrani, Rohit R. Ghurye, J. Gibbs, R. Gilbert, B. Girerd, J. Girling, P. Gissen, K. Gorman, D. Gosal, S. Graf, L. Grassi, A. Greenhalgh, L. Greenhalgh, A. Greinacher, P. Gresele, P. Griffiths, S. Griffiths, D. Grozeva, S. Hackett, R. Hadden, C. Hadinnapola, R. Hague, W. Hague, M. Haimel, M. Hall, Csaba Halmagyi, Tracey Hammerton, H. Hanson, K. Harkness, A. Harper, L. Harper, Claire L. Harris, C. Harrison, D. Hart, Ahamad Hassan, G. Hayman, J. Heemskerk, S. Hegde, A. Henderson, R. Henderson, A. Hensiek, Y. Henskens, J. Hodgson, Jonathan Hoffman, S. Holden, M. Holder, R. Horvath, H. Houlden, A. Houweling, L. Howard, Fengyuan Hu, G. Hudson, Sean Hughes, Stephen Hughes, A. E. Huis in ‘t Veld, M. Humbert, M. Hurles, J. Hurst, V. Irvine, L. Izatt, R. James, P. Jeevaratnam, M. Johnson, Sally A. Johnson, J. Jolley, Bryony Jones, Julie Jones, D. Josifova, Neringa Jurkute, Yousuf M. Karim, M. Karoshi, Mary A. Kasanicki, H. Kazkaz, R. Kazmi, D. Keeling, P. Kelleher, A. Kelly, Carly Kempster, F. Kennedy, S. Kiani, D. Kiely, N. Kingston, S. Kinsey, N. Klein, R. Klima, E. Knox, Myrto A. Kostadima, G. Kovacs, A. Koziell, Roman Kreuzhuber, D. Krishnakumar, T. Kuijpers, Ajith Kumar, M. Kurian, J. Laffan, M. Laffan, F. Lalloo, Michele P. Lambert, Hana Lango Allen, S. Lawman, A. Lawrie, D. M. Layton, S. Lear, M. Lees, C. Lentaigne, A. Levine, A. Lewington, Wei Li, R. Liesner, B. Liu, H. Longhurst, Lorena E. Lorenzo, E. Louka, Silvia Lucato Hadeler, Paul A. Lyons, M. Macdougall, R. Machado, R. M. MacKenzie Ross, L. Mackillop, R. MacLaren, B. Madan, Laura Magee, M. Mahdi-Rogers, E. Maher, M. Makris, S. Mangles, A. Manson, A. Manzur, R. Mapeta, K. Marchbank, P. Mark, S. Marks, H. Markus, H. Marschall, Andrew Marshall, Jennifer M. Martin, Larahmie Masati, M. Mathias, Vera Matser, E. Matthews, A. Maw, H. Maxwell, P. Mcalinden, Mark I. McCarthy, E. McDermott, S. McGowan, Coleen McJannet, H. McKinney, Stuart Meacham, A. Mead, Ignacio Castelló, S. Meehan, K. Megy, S. Mehta, C. Mercer, M. Michaelides, Anna C. Michell, D. Milford, C. Millar, H. Millar, Anoop Mistry, F. Moenen, S. Moledina, D. Montani, A. Moore, Jason Moore, N. Morrell, Valerie Morrisson, M. Mozere, K. Muir, A. Mumford, S. Murng, Iman Nasir, S. Nejentsev, M. Newnham, J. Ng, A. Ngoh, S. Noorani, M. Noori, P. Nurden, J. O'Sullivan, S. Obaji, S. Okoli, É. Oksenhendler, A. Olschewski, H. Olschewski, A. Ong, K. Ong, Helen Oram, E. Ormondroyd, Shokri Othman, W. Ouwehand, A. Pantazis, S. Papadia, A. Papandreou, Soo-Mi Park, A. Parker, D. Parry, Georgina Parsons, K. Pasi, J. Paterson, J. Payne, A. Peacock, K. Peerlinck, C. Penkett, J. Pepke-Zaba, D. Perry, Romina Petersen, B. Piechowski-Jóźwiak, F. Pinto, Gary Polwarth, Mark J. Ponsford, S. Prasad, I. Prokopenko, B. Psaila, A. Pyle, W. Qasim, Ellen Quinn, I. Quinti, S. Raina, Lavanya Ranganathan, J. Rankin, Stuart Rankin, A. Rao, F. L. Raymond, Karola Rehnstrom, E. Reid, M. Reilly, T. Renton, S. Revel-Vilk, Christopher J. Rhodes, Andrew S C Rice, Emma E. Richards, M. Richards, S. Richardson, A. Richter, L. Robert, I. Roberts, M. Rondina, E. Rosser, P. Rothwell, Catherine Roughley, N. Roy, Kevin C. Rue-Albrecht, O. Sadeghi-Alavijeh, M. Saleem, R. Salmon, N. Samani, J. Sambrook, R. Sandford, S. Santra, S. Satchell, S. Savic, L. Scelsi, Gwen Schotte, Sol Schulman, H. Schulze, R. Scott, M. Scully, C. Searle, W. Seeger, W. Sewell, Denis Seyres, F. Shackley, O. Shamardina, S. Shapiro, Pankaj Sharma, H. Shehata, Deborah Shipley, R. Shtoyerman, Keith R Sibson, L. Side, Michael Simpson, M. C. Sims, M. Sinha, S. Sivapalaratnam, A. Skytte, Kenneth G. C. Smith, K. Snape, L. Sneddon, A. Sohal, F. Soubrier, L. Southgate, M. Southwood, M. Splitt, Simon Staines, H. Stark, H. Stauss, C. Steele, D. Stein, P. Stein, K. Stirrups, S. Stock, M. Stubbs, J. Suntharalingam, E. Swietlik, E. Symington, R. Tait, K. Talks, R. Tan, G. Taylor, J. Thachil, James E. D. Thaventhiran, Andreas C Themistocleous, D. Thomas, E. Thomas, Patrick Thomas, D. Thompson, K. Thomson, A. Thrasher, C. Thys, T. Tilly, M. Tischkowitz, Catherine Titterton, J. Todd, C. Toh, A. Tool, M. Toshner, M. Traylor, C. Treacy, Paul Treadaway, R. Trembath, S. Trippier, Salih Tuna, Wojciech Turek, E. Turro, P. Upton, Rafal Urniaz, Tom A Vale, C. van Geet, Natalie R. van Zuydam, A. Vandersteen, Marta Vazquez-Lopez, M. Veltman, J. Vogt, J. von Ziegenweidt, A. Vonk Noordegraaf, A. Vora, Minka J. A. Vries, E. Wakeling, Neil E. Walker, S. Walker, R. Walsh, Ivy Wanjiku, J. Ware, Timothy Q. Warner, E. Wassmer, H. Watkins, Henry G. Watson, C. Watt, D. Waugh, Nick Webb, A. Webster, Wei Wei, Angela Welch, S. Welch, D. Werring, Julie Wessels, S. Westbury, J. Westwood, J. Wharton, Deborah Whitehorn, J. Whitworth, M. Wilkins, L. Willcocks, David J. Williams, C. Williamson, E. Wong, N. Wood, Y. Wood, C. Woods, E. Woodward, S. Workman, S. Wort, Katherine Yates, Nigel Yeatman, P. Yong, Tim Young, Ping Yu, P. Yu-Wai-Man, Eliska Zlamalova, Paul A. Lyons, S. Savic, E. Turro, W. Ouwehand, A. Thrasher, Kenneth G. C. Smith
7 2018
7
🐜
🐜 Consensus‐based clinical recommendations and research priorities for anticoagulant thromboprophylaxis in children hospitalized for COVID‐19–related illness
15 auth. N. Goldenberg, A. Sochet, M. Albisetti, T. Biss, M. Bonduel, J. Jaffray, G. MacLaren, P. Monagle, S. O’Brien, L. Raffini, ... S. Revel-Vilk, N. Sirachainan, Suzan Williams, A. Zia, C. Male
7 2020
7
🐜
🐜 Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects
34 auth. Ben Johnson, G. Lowe, J. Futterer, M. Lordkipanidzé, D. MacDonald, M. Simpson, I. Sánchez-Guiu, Sian Drake, D. Bem, Vincenzo C. Leo, Sarah J. Fletcher, B. Dawood, J. Rivera, D. Allsup, T. Biss, ... P. Bolton-Maggs, P. Collins, N. Curry, C. Grimley, Beki James, M. Makris, J. Motwani, S. Pavord, Katherine Talks, J. Thachil, J. Wilde, Mike Williams, P. Harrison, P. Gissen, S. Mundell, A. Mumford, M. Daly, S. Watson, N. Morgan
6 2016
6
🐜
🦁 Quantitation of bleeding symptoms in children with von Willebrand disease: use of a standardized pediatric bleeding questionnaire
10 auth. T. Biss, V. Blanchette, D. Clark, M. Bowman, C. Wakefield, M. Silva, ... D. Lillicrap, P. James, P. D. James, M. Rand
6 2010
6
🦁
🐜 Characterization and treatment of congenital thrombotic thrombocytopenic purpura.
28 auth. F. Alwan, C. Vendramin, R. Liesner, A. Clark, W. Lester, T. Dutt, W. Thomas, R. Gooding, T. Biss, Henry G. Watson, N. Cooper, R. Rayment, T. Cranfield, J. J. Veen, Q. Hill, ... Sarah Davis, J. Motwani, N. Bhatnagar, Nicole Priddee, M. Dávid, Maeve P. Crowley, J. Alamelu, H. Lyall, J. Westwood, M. Thomas, M. Thomas, M. Scully, M. Scully
6 2019
6
🐜
🦁 VKORC1 and CYP2C9 genotype and patient characteristics explain a large proportion of the variability in warfarin dose requirement among children.
10 auth. T. Biss, P. Avery, L. Brandão, E. Chalmers, Michael D. Williams, J. Grainger, ... J. Leathart, J. P. Hanley, A. Daly, F. Kamali
6 2012
6
🦁
🦁 The use of prophylaxis in 2663 children and adults with haemophilia: results of the 2006 Canadian national haemophilia prophylaxis survey
T. Biss, Anthony K. C. Chan, V. Blanchette, L. Iwenofu, M. Mclimont, M. Carcao
6 2008
6
🦁