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181
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. by Lamont, P, Wallefeld, W, Hilton-Jones, D, Udd, B, Argov, Z, Barboi, A, Bonneman, C, Boycott, K, Bushby, K, Connolly, A, Davies, N, Beggs, A, Cox, G, Dastgir, J, DeChene, E, Gooding, R, Jungbluth, H, Muelas, N, Palmio, J, Penttilä, S, Schmedding, E, Suominen, T, Straub, V, Staples, C, Van den Bergh, P
Published 2014Journal article -
182
Withdrawn Article by Alcy Torres, Catherine A. Brownstein, Sahil K. Tembulkar, Kelsey Graber, Casie Genetti, Robin J. Kleiman, Kathleen Sweadner, Kevin X. Liu, Chrystal Mavros, Niklas Smedemark-Margulies, Pankaj B. Agrawal, Jiahai Shi, Alan H. Beggs, Eugene D'Angelo, Sarah Hope Lincoln, Devon Carroll, Fatma Dedeoglu, William A. Gahl, Catherine M. Biggs, Kathryn J. Swoboda, Gerard T. Berry, Joseph Gonzalez-Heydrich
Published 2019-03-01
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183
Risk of thrombocytopenic, haemorrhagic and thromboembolic disorders following COVID-19 vaccination and positive test: a self-controlled case series analysis in Wales by Torabi, F, Bedston, S, Lowthian, E, Akbari, A, Owen, RK, Bradley, DT, Agrawal, U, Collins, P, Fry, R, Griffiths, LJ, Beggs, J, Davies, G, Hollinghurst, J, Lyons, J, Abbasizanjani, H, Cottrell, S, Perry, M, Roberts, R, Azcoaga-Lorenzo, A, Fagbamigbe, AF, Shi, T, Tsang, RSM, Robertson, C, Hobbs, FDR, de Lusignan, S, McCowan, C, Gravenor, M, Simpson, CR, Sheikh, A, Lyons, RA
Published 2022Journal article -
184
De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome by Alcy Torres, Catherine A. Brownstein, Sahil K. Tembulkar, Kelsey Graber, Casie Genetti, Robin J. Kleiman, Kathleen J. Sweadner, Chrystal Mavros, Kevin X. Liu, Niklas Smedemark-Margulies, Kiran Maski, Edward Yang, Pankaj B. Agrawal, Jiahai Shi, Alan H. Beggs, Eugene D'Angelo, Sarah Hope Lincoln, Devon Carroll, Fatma Dedeoglu, William A. Gahl, Catherine M. Biggs, Kathryn J. Swoboda, Gerard T. Berry, Joseph Gonzalez-Heydrich
Published 2018-09-01
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185
Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors by Doulatov, Sergei, Vo, Linda T., Macari, Elizabeth R., Wahlster, Lara, Kinney, Melissa A., Taylor, Alison M., Barragan, Jessica, Gupta, Manav, McGrath, Katherine, Humphries, Jessica M., DeVine, Alex, Narla, Anupama, Alter, Blanche P., Beggs, Alan H., Agarwal, Suneet, Ebert, Benjamin L., Gazda, Hanna T., Sieff, Colin A., Schlaeger, Thorsten M., Zon, Leonard I., Daley, George Q., Lee, Hsiang-Ying, Lodish, Harvey F
Published 2018
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186
COVID-19 hospital admissions and deaths after BNT162b2 and ChAdOx1 nCoV-19 vaccinations in 2·57 million people in Scotland (EAVE II): a prospective cohort study by Agrawal, U, Katikireddi, SV, McCowan, C, Mulholland, RH, Azcoaga-Lorenzo, A, Amele, S, Fagbamigbe, AF, Vasileiou, E, Grange, Z, Shi, T, Kerr, S, Moore, E, Murray, JLK, Shah, SA, Ritchie, L, O'Reilly, D, Stock, SJ, Beggs, J, Chuter, A, Torabi, F, Akbari, A, Bedston, S, McMenamin, J, Wood, R, Tang, RSM, de Lusignan, S, Hobbs, FDR, Woolhouse, M, Simpson, CR, Robertson, C, Sheikh, A
Published 2021Journal article -
187
First-dose ChAdOx1 and BNT162b2 COVID-19 vaccines and thrombocytopenic, thromboembolic and hemorrhagic events in Scotland by Simpson, CR, Shi, T, Vasileiou, E, Katikireddi, SV, Kerr, S, Moore, E, McCowan, C, Agrawal, U, Shah, SA, Ritchie, LD, Murray, J, Pan, J, Bradley, DT, Stock, SJ, Wood, R, Chuter, A, Beggs, J, Stagg, HR, Joy, M, Tsang, RSM, de Lusignan, S, Hobbs, R, Lyons, RA, Torabi, F, Bedston, S, O'Leary, M, Akbari, A, McMenamin, J, Robertson, C, Sheikh, A
Published 2021Journal article -
188
Interim findings from first-dose mass COVID-19 vaccination roll-out and COVID-19 hospital admissions in Scotland: a national prospective cohort study by Vasileiou, E, Simpson, CR, Shi, T, Kerr, S, Agrawal, U, Akbari, A, Bedston, S, Beggs, J, Bradley, D, Chuter, A, de Lusignan, S, Docherty, AB, Hobbs, F, Joy, M, Katikireddi, SV, Marple, J, McCowan, C, McGagh, D, McMenamin, J, Moore, E, Murray, J-LK, Pan, J, Ritchie, L, Shah, SA, Stock, S, Torabi, F, Tsang, R, Wood, R, Woolhouse, M, Roberton, C, Sheikh, A
Published 2021Journal article -
189
Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans by Sally C. Fletcher, Charlotte Hall, Tristan J. Kennedy, Sander Pajusalu, Monica H. Wojcik, Uncaar Boora, Chan Li, Kaisa Teele Oja, Eline Hendrix, Christian A.E. Westrip, Regina Andrijes, Sonia K. Piasecka, Mansi Singh, Mohammed E. El-Asrag, Anetta Ptasinska, Vallo Tillmann, Martin R. Higgs, Deanna A. Carere, Andrew D. Beggs, John Pappas, Rachel Rabin, Stephen J. Smerdon, Grant S. Stewart, Katrin Õunap, Mathew L. Coleman
Published 2023-04-01
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190
P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies* by Marina DiStefano, Ryan Webb, Hannah McCurry, Shannon McNulty Gray, Swati Tomar, Prasad Kopparapu, Eleanor Broeren, Kezang Tshering, Alan Beggs, Enrico Silvio Bertini, Adele D'Amico, Sandra Donkervoort, James Dowling, Fabiana Fattori, Ana Ferreiro, Casie Genetti, Hernan Gonorazky, Svetlana Gorokhova, Amanda Lindy, Livija Medne, Sander Pajusalu, Katarina Pelin, John Rendu, Matteo Vatta, Tom Winder, Hui Yang, Grace Yoon, Ozge Ceyhan-Birsoy, Carsten Bönnemann
Published 2023-01-01
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191
Effectiveness of first dose of COVID-19 vaccines against hospital admissions in Scotland: National prospective cohort study of 5.4 million people by Vasileiou, E, Simpson, CR, Robertson, C, Shi, T, Kerr, S, Agrawal, U, Akbari, A, Bedston, S, Beggs, J, Bradley, D, Chuter, A, de Lusignan, S, Docherty, A, Ford, D, Hobbs, R, Joy, M, Katikireddi, SV, Marple, J, McCowan, C, McGagh, D, McMenamin, J, Moore, E, Murray, J-LK, Pan, J, Ritchie, L, Shah, SA, Stock, S, Torabi, F, Tsang, RSM, Wood, R, Woolhouse, M, Sheikh, A
Published 2021Journal article -
192
First dose ChAdOx1 and BNT162b2 COVID-19 vaccinations and cerebral venous sinus thrombosis: a pooled self-controlled case series study of 11.6 million individuals in England, Scotl... by Kerr, S, Joy, M, Torabi, F, Bedston, S, Akbari, A, Agrawal, U, Beggs, J, Bradley, D, Chuter, A, Docherty, AB, Ford, D, Hobbs, R, Katikireddi, SV, Lowthian, E, de Lusignan, S, Lyons, R, Marple, J, McCowan, C, McGagh, D, McMenamin, J, Moore, E, Murray, J-LK, Owen, RK, Pan, J, Ritchie, L, Shah, SA, Shi, T, Stock, S, Tsang, RSM, Vasileiou, E, Woolhouse, M, Simpson, CR, Robertson, C, Sheikh, A
Published 2022Journal article -
193
Investigating the uptake, effectiveness and safety of COVID-19 vaccines: protocol for an observational study using linked UK national data by Vasileiou, E, Shi, T, Kerr, S, Robertson, C, Joy, M, Tsang, R, McGagh, D, Williams, J, Hobbs, R, de Lusignan, S, Bradley, D, OReilly, D, Murphy, S, Chuter, A, Beggs, J, Ford, D, Orton, C, Akbari, A, Bedston, S, Davies, G, Griffiths, LJ, Griffiths, R, Lowthian, E, Lyons, J, Lyons, RA, North, L, Perry, M, Torabi, F, Pickett, J, McMenamin, J, McCowan, C, Agrawal, U, Wood, R, Stock, SJ, Moore, E, Henery, P, Simpson, CR, Sheikh, A
Published 2022Journal article -
194
Musculoskeletal ultrasound in hemophilia: Results and recommendations from a global survey and consensus meeting by Nihal Bakeer, Saunya Dover, Paul Babyn, Brian M. Feldman, Annette vonDrygalski, Andrea S. Doria, Danial M. Ignas, Audrey Abad, Cindy Bailey, Ian Beggs, Eric Y. Chang, Amy Dunn, Sharon Funk, Sridhar Gibikote, Nicholas Goddard, Pamela Hilliard, Shyamkumar N. Keshava, Rebecca Kruse‐Jarres, Yingjia Li, Sébastien Lobet, Marilyn Manco‐Johnson, Carlo Martinoli, James S. O’Donnell, Olympia Papakonstantinou, Helen Pergantou, Pradeep Poonnoose, Felipe Querol, Alok Srivastava, Bruno Steiner, Karen Strike, Merel Timmer, Pascal N. Tyrrell, Logi Vidarsson, Victor S. Blanchette
Published 2021-07-01
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195
First dose ChAdOx1 and BNT162b2 COVID-19 vaccinations and cerebral venous sinus thrombosis: A pooled self-controlled case series study of 11.6 million individuals in England, Scotl... by Steven Kerr, Mark Joy, Fatemeh Torabi, Stuart Bedston, Ashley Akbari, Utkarsh Agrawal, Jillian Beggs, Declan Bradley, Antony Chuter, Annemarie B Docherty, David Ford, Richard Hobbs, Srinivasa Vittal Katikireddi, Emily Lowthian, Simon de Lusignan, Ronan Lyons, James Marple, Colin McCowan, Dylan McGagh, Jim McMenamin, Emily Moore, Josephine-L K Murray, Rhiannon K Owen, Jiafeng Pan, Lewis Ritchie, Syed Ahmar Shah, Ting Shi, Sarah Stock, Ruby S M Tsang, Eleftheria Vasileiou, Mark Woolhouse, Colin R Simpson, Chris Robertson, Aziz Sheikh
Published 2022-02-01
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196
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing by Cummings, Beryl, Marshall, Jamie L., Tukiainen, Taru, Lek, Monkol, Donkervoort, Sandra, Foley, A. Reghan, Bolduc, Veronique, Waddell, Leigh B., Sandaradura, Sarah A., O’Grady, Gina L., Estrella, Elicia, Reddy, Hemakumar M., Zhao, Fengmei, Weisburd, Ben, Karczewski, Konrad, O’Donnell-Luria, Anne H., Birnbaum, Daniel, Sarkozy, Anna, Hu, Ying, Gonorazky, Hernan, Claeys, Kristl, Joshi, Himanshu, Bournazos, Adam, Oates, Emily C., Ghaoui, Roula, Davis, Mark R., Laing, Nigel G., Topf, Ana, Kang, Peter B., Beggs, Alan H., North, Kathryn N., Straub, Volker, Dowling, James J., Muntoni, Francesco, Clarke, Nigel F., Cooper, Sandra T., Bönnemann, Carsten G., MacArthur, Daniel G.
Published 2020
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197
The Genetic Landscape of Diamond-Blackfan Anemia by Ulirsch, Jacob C., Verboon, Jeffrey M., Kazerounian, Shideh, Guo, Michael H., Yuan, Daniel, Ludwig, Leif S., Handsaker, Robert E., Abdulhay, Nour J., Fiorini, Claudia, Genovese, Giulio, Lim, Elaine T., Cheng, Aaron, Cummings, Beryl B., Chao, Katherine R., Beggs, Alan H., Genetti, Casie A., Sieff, Colin A., Newburger, Peter E., Niewiadomska, Edyta, Matysiak, Michal, Vlachos, Adrianna, Lipton, Jeffrey M., Atsidaftos, Eva, Glader, Bertil, Narla, Anupama, Gleizes, Pierre-Emmanuel, O’Donohue, Marie-Françoise, Montel-Lehry, Nathalie, Amor, David J., McCarroll, Steven A, O’Donnell-Luria, Anne H., Gupta, Namrata, Gabriel, Stacey, MacArthur, Daniel G., Lander, Eric Steven, Lek, Monkol, Da Costa, Lydie, Nathan, David G., Korostelev, Andrei A., Do, Ron, Sankaran, Vijay G., Gazda, Hanna T., Diamond-Blackfan Anemia Cohort
Published 2020
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198
A population-scale temporal case–control evaluation of COVID-19 disease phenotype and related outcome rates in patients with cancer in England (UKCCP) by Starkey, T, Ionescu, MC, Tilby, M, Little, M, Burke, E, Fittall, MW, Khan, S, Liu, JKH, Platt, JR, Mew, R, Tripathy, AR, Watts, I, Williams, ST, Appanna, N, Al-Hajji, Y, Barnard, M, Benny, L, Burnett, A, Bytyci, J, Cattell, EL, Cheng, V, Clark, JJ, Eastlake, L, Gerrand, K, Ghafoor, Q, Grumett, S, Harper-Wynne, C, Kahn, R, Lee, AJX, Lomas, O, Lydon, A, Mckenzie, H, Panneerselvam, H, Pascoe, JS, Patel, G, Patel, V, Potter, VA, Randle, A, Rigg, AS, Robinson, TM, Roylance, R, Roques, TW, Rozmanowski, S, Roux, RL, Shah, K, Sheehan, R, Sintler, M, Swarup, S, Taylor, H, Tillett, T, Tuthill, M, Williams, S, Ying, Y, Beggs, A, Iveson, T, Lee, SM, Middleton, G, Middleton, M, Protheroe, A, Fowler, T, Johnson, P, Lee, LYW
Published 2023Journal article -
199
Molecular characterization of colorectal cancer related peritoneal metastatic disease by Kristiaan J. Lenos, Sander Bach, Leandro Ferreira Moreno, Sanne ten Hoorn, Nina R. Sluiter, Sanne Bootsma, Felipe A. Vieira Braga, Lisanne E. Nijman, Tom van den Bosch, Daniel M. Miedema, Erik van Dijk, Bauke Ylstra, Ruth Kulicke, Fred P. Davis, Nicolas Stransky, Gromoslaw A. Smolen, Robert R. J. Coebergh van den Braak, Jan N. M. IJzermans, John W. M. Martens, Sally Hallam, Andrew D. Beggs, Geert J. P. L. Kops, Nico Lansu, Vivian P. Bastiaenen, Charlotte E. L. Klaver, Maria C. Lecca, Khalid El Makrini, Clara C. Elbers, Mark P. G. Dings, Carel J. M. van Noesel, Onno Kranenburg, Jan Paul Medema, Jan Koster, Lianne Koens, Cornelis J. A. Punt, Pieter J. Tanis, Ignace H. de Hingh, Maarten F. Bijlsma, Jurriaan B. Tuynman, Louis Vermeulen
Published 2022-08-01
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200
A population-scale temporal case–control evaluation of COVID-19 disease phenotype and related outcome rates in patients with cancer in England (UKCCP) by Thomas Starkey, Maria C. Ionescu, Michael Tilby, Martin Little, Emma Burke, Matthew W. Fittall, Sam Khan, Justin K. H. Liu, James R. Platt, Rosie Mew, Arvind R. Tripathy, Isabella Watts, Sophie Therese Williams, Nathan Appanna, Youssra Al-Hajji, Matthew Barnard, Liza Benny, Alexander Burnett, Jola Bytyci, Emma L. Cattell, Vinton Cheng, James J. Clark, Leonie Eastlake, Kate Gerrand, Qamar Ghafoor, Simon Grumett, Catherine Harper-Wynne, Rachel Kahn, Alvin J. X. Lee, Oliver Lomas, Anna Lydon, Hayley Mckenzie, NCRI Consumer Forum, Hari Panneerselvam, Jennifer S. Pascoe, Grisma Patel, Vijay Patel, Vanessa A. Potter, Amelia Randle, Anne S. Rigg, Tim M. Robinson, Rebecca Roylance, Tom W. Roques, Stefan Rozmanowski, René L. Roux, Ketan Shah, Remarez Sheehan, Martin Sintler, Sanskriti Swarup, Harriet Taylor, Tania Tillett, Mark Tuthill, Sarah Williams, Yuxin Ying, Andrew Beggs, Tim Iveson, Siow Ming Lee, Gary Middleton, Mark Middleton, Andrew Protheroe, Tom Fowler, Peter Johnson, Lennard Y. W. Lee
Published 2023-07-01
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