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Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

Lisa-Marie Niestroj Orcid Logo, Eduardo Perez-Palma, Daniel P Howrigan, Yadi Zhou, Feixiong Cheng, Elmo Saarentaus Orcid Logo, Peter Nürnberg, Remi Stevelink, Mark J Daly, Aarno Palotie, Dennis Lal, Yen-Chen Anne Feng, Daniel P Howrigan, Liam E Abbott, Katherine Tashman, Felecia Cerrato, Dennis Lal, Claire Churchhouse, Namrata Gupta, Benjamin M Neale, Samuel F Berkovic, Holger Lerche, David B Goldstein, Daniel H Lowenstein, Gianpiero L Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon-Salazar, Renzo Guerrini, Hakon Hakonarson, Erin L Heinzen, Ingo Helbig, Patrick Kwan, Anthony G Marson, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis J Dlugos, Ingrid E Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin McKenna, Brigid M Regan, Susannah T Bellows, Costin Leu, Brigid M Regan, Caitlin A Bennett, Susannah T Bellows, Esther C Johns, Alexandra Macdonald, Hannah Shilling, Rosemary Burgess, Dorien Weckhuysen, Melanie Bahlo, Terence J O’Brien, Patrick Kwan, Slavé Petrovski, Marian Todaro, Sarah Weckhuysen, Hannah Stamberger, Peter De Jonghe, Chantal Depondt, Danielle M Andrade, Tara R Sadoway, Kelly Mo, Heinz Krestel, Sabina Gallati, Savvas S Papacostas, Ioanna Kousiappa, George A Tanteles, Katalin Šterbová, Markéta Vlcková, Lucie Sedlácková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S Reif, Susanne Knake, Wolfram S Kunz, Gábor Zsurka, Christian E Elger, Jürgen Bauer, Michael Rademacher, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Müller-Schlüter, Gerhard Kluger, Martin Häusler, Ilan Blatt, Johannes R Lemke, Ilona Krey, Yvonne G Weber, Stefan Wolking, Felicitas Becker, Christian Hengsbach, Sarah Rau, Ana F Maisch, Bernhard J Steinhoff, Andreas Schulze-Bonhage, Susanne Schubert-Bast, Herbert Schreiber, Ingo Borggräfe, Christoph J Schankin, Thomas Mayer, Rudolf Korinthenberg, Knut Brockmann, Gerhard Kurlemann, Dieter Dennig, Rene Madeleyn, Reetta Kälviäinen, Pia Auvinen, Anni Saarela, Tarja Linnankivi, Anna-Elina Lehesjoki, Mark I Rees, Seo-Kyung Chung, William O Pickrell, Robert Powell, Sanjay M Sisodiya, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Anthony G Marson, Michael R Johnson, Pauls Auce, Graeme J Sills, Patrick Kwan, Larry W Baum, Pak C Sham, Stacey S Cherny, Colin H T Lui, Nina Barišic, Gianpiero L Cavalleri, Norman Delanty, Colin P Doherty, Arif Shukralla, Mark McCormack, Hany El-Naggar, Laura Canafoglia, Silvana Franceschetti, Barbara Castellotti, Tiziana Granata, Pasquale Striano, Federico Zara, Michele Iacomino, Francesca Madia, Maria Stella Vari, Maria Margherita Mancardi, Vincenzo Salpietro, Francesca Bisulli, Paolo Tinuper, Laura Licchetta, Tommaso Pippucci, Carlotta Stipa, Lorenzo Muccioli, Raffaella Minardi, Antonio Gambardella, Angelo Labate, Grazia Annesi, Lorella Manna, Monica Gagliardi, Elena Parrini, Davide Mei, Annalisa Vetro, Claudia Bianchini, Martino Montomoli, Viola Doccini, Carla Marini, Toshimitsu Suzuki, Yushi Inoue, Kazuhiro Yamakawa, Birute Tumiene, Ruta Mameniskiene, Algirdas Utkus, Ruta Praninskiene, Jurgita Grikiniene, Ruta Samaitiene, Lynette G Sadleir, Chontelle King, Emily Mountier, S Hande Caglayan, Mutluay Arslan, Zuhal Yapici, Uluc Yis, Pinar Topaloglu, Bulent Kara, Dilsad Turkdogan, Asli Gundogdu-Eken, Nerses Bebek, Sibel Ugur-Iseri, Betül Baykan, Baris Salman, Garen Haryanyan, Emrah Yücesan, Yesim Kesim, Çigdem Özkara, Beth R Sheidley, Catherine Shain, Annapurna Poduri, Russell J Buono, Thomas N Ferraro, Michael R Sperling, Dennis J Dlugos, Warren Lo, Michael Privitera, Jacqueline A French, Patrick Cossette, Steven Schachter, Hakon Hakonarson, Ruben I Kuzniecky, Dennis J Dlugos, Orrin Devinsky, Ruben I Kuzniecky, Jacqueline A French, Manu Hegde, Pouya Khankhanian, Katherine L Helbig, Colin A Ellis, Gianfranco Spalletta, Fabrizio Piras, Federica Piras, Tommaso Gili, Valentina Ciullo, (the Epi25 Collaborative)

Brain, Volume: 143, Issue: 7, Pages: 2106 - 2118

Swansea University Author: Robert Powell

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DOI (Published version): 10.1093/brain/awaa171

Published in: Brain
ISSN: 0006-8950 1460-2156
Published: Oxford University Press (OUP) 2020
Online Access: Check full text

URI: https://cronfa.swan.ac.uk/Record/cronfa60622
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fullrecord <?xml version="1.0"?><rfc1807><datestamp>2022-08-15T11:34:27.5030115</datestamp><bib-version>v2</bib-version><id>60622</id><entry>2022-07-25</entry><title>Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17&#x2009;458 subjects</title><swanseaauthors><author><sid>7c8ac48bb6ae4281930e4138f94a51b6</sid><firstname>Robert</firstname><surname>Powell</surname><name>Robert Powell</name><active>true</active><ethesisStudent>false</ethesisStudent></author></swanseaauthors><date>2022-07-25</date><deptcode>FGMHL</deptcode><abstract/><type>Journal Article</type><journal>Brain</journal><volume>143</volume><journalNumber>7</journalNumber><paginationStart>2106</paginationStart><paginationEnd>2118</paginationEnd><publisher>Oxford University Press (OUP)</publisher><placeOfPublication/><isbnPrint/><isbnElectronic/><issnPrint>0006-8950</issnPrint><issnElectronic>1460-2156</issnElectronic><keywords>copy number variation, epilepsy, genetic generalized epilepsy, developmental and epileptic encephalopathy, focal epilepsy</keywords><publishedDay>1</publishedDay><publishedMonth>7</publishedMonth><publishedYear>2020</publishedYear><publishedDate>2020-07-01</publishedDate><doi>10.1093/brain/awaa171</doi><url/><notes/><college>COLLEGE NANME</college><department>Medicine, Health and Life Science - Faculty</department><CollegeCode>COLLEGE CODE</CollegeCode><DepartmentCode>FGMHL</DepartmentCode><institution>Swansea University</institution><apcterm/><funders>This work is part of the Centers for Common Disease Genomics (CCDG) program, funded by the National Human Genome Research Institute (NHGRI) and the National Heart, Lung, and Blood Institute (NHLBI). CCDG-funded Epi25 research activities at the Broad Institute, including genomic data generation in the Broad Genomics Platform, are supported by NHGRI grant UM1 HG008895 (PIs: Eric Lander, Stacey Gabriel, Mark Daly, Sekar Kathiresan).</funders><projectreference/><lastEdited>2022-08-15T11:34:27.5030115</lastEdited><Created>2022-07-25T11:14:46.2160150</Created><path><level id="1">Faculty of Medicine, Health and Life Sciences</level><level id="2">Swansea University Medical School - Medicine</level></path><authors><author><firstname>Lisa-Marie</firstname><surname>Niestroj</surname><orcid>0000-0002-6986-0549</orcid><order>1</order></author><author><firstname>Eduardo</firstname><surname>Perez-Palma</surname><order>2</order></author><author><firstname>Daniel 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spelling 2022-08-15T11:34:27.5030115 v2 60622 2022-07-25 Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects 7c8ac48bb6ae4281930e4138f94a51b6 Robert Powell Robert Powell true false 2022-07-25 FGMHL Journal Article Brain 143 7 2106 2118 Oxford University Press (OUP) 0006-8950 1460-2156 copy number variation, epilepsy, genetic generalized epilepsy, developmental and epileptic encephalopathy, focal epilepsy 1 7 2020 2020-07-01 10.1093/brain/awaa171 COLLEGE NANME Medicine, Health and Life Science - Faculty COLLEGE CODE FGMHL Swansea University This work is part of the Centers for Common Disease Genomics (CCDG) program, funded by the National Human Genome Research Institute (NHGRI) and the National Heart, Lung, and Blood Institute (NHLBI). CCDG-funded Epi25 research activities at the Broad Institute, including genomic data generation in the Broad Genomics Platform, are supported by NHGRI grant UM1 HG008895 (PIs: Eric Lander, Stacey Gabriel, Mark Daly, Sekar Kathiresan). 2022-08-15T11:34:27.5030115 2022-07-25T11:14:46.2160150 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Medicine Lisa-Marie Niestroj 0000-0002-6986-0549 1 Eduardo Perez-Palma 2 Daniel P Howrigan 3 Yadi Zhou 4 Feixiong Cheng 5 Elmo Saarentaus 0000-0002-8475-7187 6 Peter Nürnberg 7 Remi Stevelink 8 Mark J Daly 9 Aarno Palotie 10 Dennis Lal 11 Yen-Chen Anne Feng 12 Daniel P Howrigan 13 Liam E Abbott 14 Katherine Tashman 15 Felecia Cerrato 16 Dennis Lal 17 Claire Churchhouse 18 Namrata Gupta 19 Benjamin M Neale 20 Samuel F Berkovic 21 Holger Lerche 22 David B Goldstein 23 Daniel H Lowenstein 24 Gianpiero L Cavalleri 25 Patrick Cossette 26 Chris Cotsapas 27 Peter De Jonghe 28 Tracy Dixon-Salazar 29 Renzo Guerrini 30 Hakon Hakonarson 31 Erin L Heinzen 32 Ingo Helbig 33 Patrick Kwan 34 Anthony G Marson 35 Slavé Petrovski 36 Sitharthan Kamalakaran 37 Sanjay M Sisodiya 38 Randy Stewart 39 Sarah Weckhuysen 40 Chantal Depondt 41 Dennis J Dlugos 42 Ingrid E Scheffer 43 Pasquale Striano 44 Catharine Freyer 45 Roland Krause 46 Patrick May 47 Kevin McKenna 48 Brigid M Regan 49 Susannah T Bellows 50 Costin Leu 51 Brigid M Regan 52 Caitlin A Bennett 53 Susannah T Bellows 54 Esther C Johns 55 Alexandra Macdonald 56 Hannah Shilling 57 Rosemary Burgess 58 Dorien Weckhuysen 59 Melanie Bahlo 60 Terence J O’Brien 61 Patrick Kwan 62 Slavé Petrovski 63 Marian Todaro 64 Sarah Weckhuysen 65 Hannah Stamberger 66 Peter De Jonghe 67 Chantal Depondt 68 Danielle M Andrade 69 Tara R Sadoway 70 Kelly Mo 71 Heinz Krestel 72 Sabina Gallati 73 Savvas S Papacostas 74 Ioanna Kousiappa 75 George A Tanteles 76 Katalin Šterbová 77 Markéta Vlcková 78 Lucie Sedlácková 79 Petra Laššuthová 80 Karl Martin Klein 81 Felix Rosenow 82 Philipp S Reif 83 Susanne Knake 84 Wolfram S Kunz 85 Gábor Zsurka 86 Christian E Elger 87 Jürgen Bauer 88 Michael Rademacher 89 Manuela Pendziwiat 90 Hiltrud Muhle 91 Annika Rademacher 92 Andreas van Baalen 93 Sarah von Spiczak 94 Ulrich Stephani 95 Zaid Afawi 96 Amos D Korczyn 97 Moien Kanaan 98 Christina Canavati 99 Gerhard Kurlemann 100 Karen Müller-Schlüter 101 Gerhard Kluger 102 Martin Häusler 103 Ilan Blatt 104 Johannes R Lemke 105 Ilona Krey 106 Yvonne G Weber 107 Stefan Wolking 108 Felicitas Becker 109 Christian Hengsbach 110 Sarah Rau 111 Ana F Maisch 112 Bernhard J Steinhoff 113 Andreas Schulze-Bonhage 114 Susanne Schubert-Bast 115 Herbert Schreiber 116 Ingo Borggräfe 117 Christoph J Schankin 118 Thomas Mayer 119 Rudolf Korinthenberg 120 Knut Brockmann 121 Gerhard Kurlemann 122 Dieter Dennig 123 Rene Madeleyn 124 Reetta Kälviäinen 125 Pia Auvinen 126 Anni Saarela 127 Tarja Linnankivi 128 Anna-Elina Lehesjoki 129 Mark I Rees 130 Seo-Kyung Chung 131 William O Pickrell 132 Robert Powell 133 Sanjay M Sisodiya 134 Natascha Schneider 135 Simona Balestrini 136 Sara Zagaglia 137 Vera Braatz 138 Anthony G Marson 139 Michael R Johnson 140 Pauls Auce 141 Graeme J Sills 142 Patrick Kwan 143 Larry W Baum 144 Pak C Sham 145 Stacey S Cherny 146 Colin H T Lui 147 Nina Barišic 148 Gianpiero L Cavalleri 149 Norman Delanty 150 Colin P Doherty 151 Arif Shukralla 152 Mark McCormack 153 Hany El-Naggar 154 Laura Canafoglia 155 Silvana Franceschetti 156 Barbara Castellotti 157 Tiziana Granata 158 Pasquale Striano 159 Federico Zara 160 Michele Iacomino 161 Francesca Madia 162 Maria Stella Vari 163 Maria Margherita Mancardi 164 Vincenzo Salpietro 165 Francesca Bisulli 166 Paolo Tinuper 167 Laura Licchetta 168 Tommaso Pippucci 169 Carlotta Stipa 170 Lorenzo Muccioli 171 Raffaella Minardi 172 Antonio Gambardella 173 Angelo Labate 174 Grazia Annesi 175 Lorella Manna 176 Monica Gagliardi 177 Elena Parrini 178 Davide Mei 179 Annalisa Vetro 180 Claudia Bianchini 181 Martino Montomoli 182 Viola Doccini 183 Carla Marini 184 Toshimitsu Suzuki 185 Yushi Inoue 186 Kazuhiro Yamakawa 187 Birute Tumiene 188 Ruta Mameniskiene 189 Algirdas Utkus 190 Ruta Praninskiene 191 Jurgita Grikiniene 192 Ruta Samaitiene 193 Lynette G Sadleir 194 Chontelle King 195 Emily Mountier 196 S Hande Caglayan 197 Mutluay Arslan 198 Zuhal Yapici 199 Uluc Yis 200 Pinar Topaloglu 201 Bulent Kara 202 Dilsad Turkdogan 203 Asli Gundogdu-Eken 204 Nerses Bebek 205 Sibel Ugur-Iseri 206 Betül Baykan 207 Baris Salman 208 Garen Haryanyan 209 Emrah Yücesan 210 Yesim Kesim 211 Çigdem Özkara 212 Beth R Sheidley 213 Catherine Shain 214 Annapurna Poduri 215 Russell J Buono 216 Thomas N Ferraro 217 Michael R Sperling 218 Dennis J Dlugos 219 Warren Lo 220 Michael Privitera 221 Jacqueline A French 222 Patrick Cossette 223 Steven Schachter 224 Hakon Hakonarson 225 Ruben I Kuzniecky 226 Dennis J Dlugos 227 Orrin Devinsky 228 Ruben I Kuzniecky 229 Jacqueline A French 230 Manu Hegde 231 Pouya Khankhanian 232 Katherine L Helbig 233 Colin A Ellis 234 Gianfranco Spalletta 235 Fabrizio Piras 236 Federica Piras 237 Tommaso Gili 238 Valentina Ciullo 239 (the Epi25 Collaborative) 240
title Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
spellingShingle Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
Robert Powell
title_short Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
title_full Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
title_fullStr Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
title_full_unstemmed Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
title_sort Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
author_id_str_mv 7c8ac48bb6ae4281930e4138f94a51b6
author_id_fullname_str_mv 7c8ac48bb6ae4281930e4138f94a51b6_***_Robert Powell
author Robert Powell
author2 Lisa-Marie Niestroj
Eduardo Perez-Palma
Daniel P Howrigan
Yadi Zhou
Feixiong Cheng
Elmo Saarentaus
Peter Nürnberg
Remi Stevelink
Mark J Daly
Aarno Palotie
Dennis Lal
Yen-Chen Anne Feng
Daniel P Howrigan
Liam E Abbott
Katherine Tashman
Felecia Cerrato
Dennis Lal
Claire Churchhouse
Namrata Gupta
Benjamin M Neale
Samuel F Berkovic
Holger Lerche
David B Goldstein
Daniel H Lowenstein
Gianpiero L Cavalleri
Patrick Cossette
Chris Cotsapas
Peter De Jonghe
Tracy Dixon-Salazar
Renzo Guerrini
Hakon Hakonarson
Erin L Heinzen
Ingo Helbig
Patrick Kwan
Anthony G Marson
Slavé Petrovski
Sitharthan Kamalakaran
Sanjay M Sisodiya
Randy Stewart
Sarah Weckhuysen
Chantal Depondt
Dennis J Dlugos
Ingrid E Scheffer
Pasquale Striano
Catharine Freyer
Roland Krause
Patrick May
Kevin McKenna
Brigid M Regan
Susannah T Bellows
Costin Leu
Brigid M Regan
Caitlin A Bennett
Susannah T Bellows
Esther C Johns
Alexandra Macdonald
Hannah Shilling
Rosemary Burgess
Dorien Weckhuysen
Melanie Bahlo
Terence J O’Brien
Patrick Kwan
Slavé Petrovski
Marian Todaro
Sarah Weckhuysen
Hannah Stamberger
Peter De Jonghe
Chantal Depondt
Danielle M Andrade
Tara R Sadoway
Kelly Mo
Heinz Krestel
Sabina Gallati
Savvas S Papacostas
Ioanna Kousiappa
George A Tanteles
Katalin Šterbová
Markéta Vlcková
Lucie Sedlácková
Petra Laššuthová
Karl Martin Klein
Felix Rosenow
Philipp S Reif
Susanne Knake
Wolfram S Kunz
Gábor Zsurka
Christian E Elger
Jürgen Bauer
Michael Rademacher
Manuela Pendziwiat
Hiltrud Muhle
Annika Rademacher
Andreas van Baalen
Sarah von Spiczak
Ulrich Stephani
Zaid Afawi
Amos D Korczyn
Moien Kanaan
Christina Canavati
Gerhard Kurlemann
Karen Müller-Schlüter
Gerhard Kluger
Martin Häusler
Ilan Blatt
Johannes R Lemke
Ilona Krey
Yvonne G Weber
Stefan Wolking
Felicitas Becker
Christian Hengsbach
Sarah Rau
Ana F Maisch
Bernhard J Steinhoff
Andreas Schulze-Bonhage
Susanne Schubert-Bast
Herbert Schreiber
Ingo Borggräfe
Christoph J Schankin
Thomas Mayer
Rudolf Korinthenberg
Knut Brockmann
Gerhard Kurlemann
Dieter Dennig
Rene Madeleyn
Reetta Kälviäinen
Pia Auvinen
Anni Saarela
Tarja Linnankivi
Anna-Elina Lehesjoki
Mark I Rees
Seo-Kyung Chung
William O Pickrell
Robert Powell
Sanjay M Sisodiya
Natascha Schneider
Simona Balestrini
Sara Zagaglia
Vera Braatz
Anthony G Marson
Michael R Johnson
Pauls Auce
Graeme J Sills
Patrick Kwan
Larry W Baum
Pak C Sham
Stacey S Cherny
Colin H T Lui
Nina Barišic
Gianpiero L Cavalleri
Norman Delanty
Colin P Doherty
Arif Shukralla
Mark McCormack
Hany El-Naggar
Laura Canafoglia
Silvana Franceschetti
Barbara Castellotti
Tiziana Granata
Pasquale Striano
Federico Zara
Michele Iacomino
Francesca Madia
Maria Stella Vari
Maria Margherita Mancardi
Vincenzo Salpietro
Francesca Bisulli
Paolo Tinuper
Laura Licchetta
Tommaso Pippucci
Carlotta Stipa
Lorenzo Muccioli
Raffaella Minardi
Antonio Gambardella
Angelo Labate
Grazia Annesi
Lorella Manna
Monica Gagliardi
Elena Parrini
Davide Mei
Annalisa Vetro
Claudia Bianchini
Martino Montomoli
Viola Doccini
Carla Marini
Toshimitsu Suzuki
Yushi Inoue
Kazuhiro Yamakawa
Birute Tumiene
Ruta Mameniskiene
Algirdas Utkus
Ruta Praninskiene
Jurgita Grikiniene
Ruta Samaitiene
Lynette G Sadleir
Chontelle King
Emily Mountier
S Hande Caglayan
Mutluay Arslan
Zuhal Yapici
Uluc Yis
Pinar Topaloglu
Bulent Kara
Dilsad Turkdogan
Asli Gundogdu-Eken
Nerses Bebek
Sibel Ugur-Iseri
Betül Baykan
Baris Salman
Garen Haryanyan
Emrah Yücesan
Yesim Kesim
Çigdem Özkara
Beth R Sheidley
Catherine Shain
Annapurna Poduri
Russell J Buono
Thomas N Ferraro
Michael R Sperling
Dennis J Dlugos
Warren Lo
Michael Privitera
Jacqueline A French
Patrick Cossette
Steven Schachter
Hakon Hakonarson
Ruben I Kuzniecky
Dennis J Dlugos
Orrin Devinsky
Ruben I Kuzniecky
Jacqueline A French
Manu Hegde
Pouya Khankhanian
Katherine L Helbig
Colin A Ellis
Gianfranco Spalletta
Fabrizio Piras
Federica Piras
Tommaso Gili
Valentina Ciullo
(the Epi25 Collaborative)
format Journal article
container_title Brain
container_volume 143
container_issue 7
container_start_page 2106
publishDate 2020
institution Swansea University
issn 0006-8950
1460-2156
doi_str_mv 10.1093/brain/awaa171
publisher Oxford University Press (OUP)
college_str Faculty of Medicine, Health and Life Sciences
hierarchytype
hierarchy_top_id facultyofmedicinehealthandlifesciences
hierarchy_top_title Faculty of Medicine, Health and Life Sciences
hierarchy_parent_id facultyofmedicinehealthandlifesciences
hierarchy_parent_title Faculty of Medicine, Health and Life Sciences
department_str Swansea University Medical School - Medicine{{{_:::_}}}Faculty of Medicine, Health and Life Sciences{{{_:::_}}}Swansea University Medical School - Medicine
document_store_str 0
active_str 0
published_date 2020-07-01T04:18:53Z
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