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2. 36-month clinical outcomes of patients with venous thromboembolism: GARFIELD-VTE

Author

Loualidi, Ab, Colak, Abdurrahim, Bezuidenhout, Abraham, Abdool-Carrim, Abu, Azeddine, Addala, Beyers, Adriaan, Dees, Adriaan, Mohamed, Ahmed, Aksoy, Ahmet, Abiko, Akihiko, Watanabe, Akinori, Krichell, Alan, Fernandez, Alberto Alfredo, Tosetto, Alberto, Khotuntsov, Alexey, Oropallo, Alisha, Slocombe, Alison, Kelly, Allan, Clark, Amanda, Gad, Amr, Arouni, Amy, Schmidt, Andor, Berni, Andrea, Kleiban, Andres Javier, Machowski, Andrew, Kazakov, Andrey, Galvez, Angel, Lockman, Ann, Falanga, Anna, Chauhan, Anoop, Riera-Mestre, Antoni, Mazzone, Antonino, D'Angelo, Armando, Herdy, Artur, Kato, Atsushi, Salem, Ayman Abd Elhamid Ebrahim Mahmoud, Husin, Azlan, Erdelyi, Barbara, Jacobson, Barry, Amann-Vesti, Beatrice, Battaloglu, Bektas, Wilson, Benedicte, Cosmi, Benilde, Francois, Bergmann Jean, Toufek, Berremeli, Hunt, Beverley, Natha, Bhavesh, Mustafa, Bisher, Kho, Bonnie Chi Shan, Carine, Boulon, Zidel, Brian, Dominique, Brisot, Christophe, Brousse, Trimarco, Bruno, Luo, Canhua, Cuneo, Carlos Alberto, Diaz, Carlos Jerjes Sanchez, Schwencke, Carsten, Cader, Cas, Yavuz, Celal, Zaidman, Cesar Javier, Lunn, Charles, Wu, Chau-Chung, Toh, Cheng Hock, Chiang, Chern-En, Elisa, Chevrier, Hsia, Chien-Hsun, Huang, Chien-Lung, Kwok, Chi-Hang Kevin, Wu, Chih-Cheng, Huang, Chi-Hung, Ward, Chris, Opitz, Christian, Jeanneret-Gris, Christina, Ha, Chung Yin, Huang, Chun-Yao, Bidi, Claude Luyeye, Smith, Clifford, Brauer, Cornelia, Lodigiani, Corrado, Francis, Couturaud, Wu, Cynthia, Staub, Daniel, Theodoro, Daniel, Poli, Daniela, Acevedo, David - Riesco, Adler, David, Jimenez, David, Keeling, David, Scott, David, Imberti, Davide, Creagh, Desmond, Helene, Desmurs-Clavel, Hagemann, Dirk, Le Roux, Dirk, Skowasch, Dirk, Belenky, Dmitry, Dorokhov, Dmitry, Petrov, Dmitry, Zateyshchikov, Dmitry, Prisco, Domenico, Møller, Dorthe, Kucera, Dusan, Esheiba, Ehab M., Panchenko, Elizaveta, Dominique, Elkouri, Dogan, Emre, Kubat, Emre, Diaz, Enrique Diaz, Tse, Eric Wai Choi, Yeo, Erik, Hashas, Erman, Grochenig, Ernst, Tiraferri, Eros, Blessing, Erwin, Michèle, Escande Orthlieb, Usandizaga, Esther, Porreca, Ettore, Ferroni, Fabian, Nicolas, Falvo, Ayala-Paredes, Félix, Koura, Firas, Henry, Fitjerald, Cosmi, Franco, Erdkamp, Frans, Kamalov, Gadel, Dalmau, Garcia-Bragado, Damien, Garrigues, Klein, Garry, Shah, Gaurand, Hollanders, Geert, Merli, Geno, Plassmann, Georg, Platt, George, Poirier, Germain, Sokurenko, German, Haddad, Ghassan, Ali, Gholam, Agnelli, Giancarlo, Gan, Gin Gin, Kaye-Eddie, Grace, Le Gal, Gregoire, Allen, Gregory, Esperón, Guillermo Antonio Llamas, Jean-Paul, Guillot, Gerofke, Hagen, Elali, Hallah, Burianova, Hana, Ohler, Hans-Juergen, Wang, Haofu, Darius, Harald, Gogia, Harinder S., Striekwold, Harry, Gibbs, Harry, Hasanoglu, Hatice, Turker, Hatice, Franow, Hendrik, Bounameaux, Henri, De Raedt, Herbert, Schroe, Herman, ElDin, Hesham Salah, Zidan, Hesham, Nakamura, Hiroaki, Kim, Ho Young, Lawall, Holger, Zhu, Hong, Tian, Hongyan, Yhim, Ho-Young, ten Cate, Hugo, Hwang, Hun Gyu, Shim, Hyeok, Kim, Igor, Libov, Igor, Sonkin, Igor, Suchkov, Igor, Song, Ik-Chan, Kiris, Ilker, Staroverov, Ilya, Looi, Irene, De La Azuela Tenorio, Isabel M., Savas, Ismail, Gordeev, Ivan, Podpera, Ivo, Lee, Jae Hoon, Sathar, Jameela, Welker, James, Beyer-Westendorf, Jan, Kvasnicka, Jan, Vanwelden, Jan, Kim, JangYong, Svobodova, Jaromira, Gujral, Jaspal, Marino, Javier, Galvar, Javier Tristan, Kassis, Jeannine, Kuo, Jen-Yuan, Shih, Jhih-Yuan, Kwon, JiHyun, Joh, Jin Hyun, Park, Jin Hyun, Kim, Jin Seok, Yang, Jinghua, Krupicka, Jiri, Lastuvka, Jiri, Pumprla, Jiri, Vesely, Jiri, Souto, Joan Carlos, Correa, João Antônio, Duchateau, Johan, Fletcher, John Perry, del Toro, Jorge, Paez, Jorge Guillermo Chavez, Nielsen, Jørn, Filho, Jose Dalmo Araujo, Saraiva, Jose, Peromingo, Jose Antonio Diaz, Lara, Jose Gomez, Fedele, Jose Luis, Surinach, Jose Maria, Chacko, Joseph, Muntaner, Juan Antonio, Benitez, Juan Carlos Álvarez, Abril, Juan Moreno Hoyos, Humphrey, Julian, Bono, Julio, Kanda, Junji, Boondumrongsagoon, Juree, Yiu, Kai Hang, Chansung, Kanchana, Boomars, Karin, Burbury, Kate, Kondo, Katsuhiro, Karaarslan, Kemal, Takeuchi, Kensuke, Kroeger, Knut, Zrazhevskiy, Konstantin, Svatopluk, Koscál, Shyu, Kou-Gi, Vandenbosch, Kristel, Chang, Kuan-Cheng, Chiu, Kuan-Ming, Jean-Manuel, Kubina, Wern, Kwan Jing, Ueng, Kwo-Chang, Norasetthada, Lalita, Binet, Laure, Chew, Lee Ping, Zhang, Lei, Cristina, Leone Maria, Tick, Lidwine, Schiavi, Lilia Beatriz, Wong, Lily Lee Lee, Borges, Lohana, Botha, Louis, Capiau, Luc, Timmermans, Luc, López, Luciano Eduardo, Ria, Luigi, Blasco, Luis Manuel Hernandez, Guzman, Luis Alberto, Cervera, Luis Flota, Isabelle, Mahe, Bosch, Manuel Monreal, de los Rios Ibarra, Manuel, Fernandez, Manuel Núñez, Carrier, Marc, Barrionuevo, Marcelo Raul, Gamba, Marco Antonio Alcocer, Cattaneo, Marco, Moia, Marco, Bowers, Margaret, Chetanachan, Mariam, Berli, Mario Alberto, Fixley, Mark, Faghih, Markus, Stuecker, Markus, Schul, Marlin, Banyai, Martin, Koretzky, Martin, Myriam, Martin, Gaffney, Mary Elizabeth, Hirano, Masao, Kanemoto, Masashi, Nakamura, Mashio, Tahar, Mersel, Emmanuel, Messas, Kovacs, Michael, Leahy, Michael, Levy, Michael, Munch, Michael, Olsen, Michael, De Pauw, Michel, Gustin, Michel, Van Betsbrugge, Michiel, Boyarkin, Mikhail, Homza, Miroslav, Koto, Modise, Abdool-Gaffar, Mohamed, Nagib, Mohamed Ayman Fakhry, El-Dessoki, Mohamed, Khan, Mohamed, Mohamed, Monniaty, Kim, Moo Hyun, Lee, Moon-Hee, Soliman, Mosaad, Ahmed, Mostafa Shawky, el Bary, Mostafa Soliman Abd, Moustafa, Moustafa A., Hameed, Muhammad, Kanko, Muhip, Majumder, Mujibur, Zubareva, Nadezhda, Mumoli, Nicola, Abdullah, Nik Azim Nik, Makruasi, Nisa, Paruk, Nishen, Kanitsap, Nonglak, Duda, Norberto, Nordin, Nordiana, Nyvad, Ole, Barbarash, Olga, Gurbuz, Orcun, Vilamajo, Oscar Gomez, Flores, Oscar Nandayapa, Gur, Ozcan, Oto, Oztekin, Marchena, Pablo Javier, Angchaisuksiri, Pantep, Carroll, Patrick, Lang, Pavel, MacCallum, Peter, von Bilderling, Peter Baron, Blombery, Peter, Verhamme, Peter, Jansky, Petr, Bernadette, Peuch, De Vleeschauwer, Philippe, Hainaut, Philippe, Ferrini, Piera Maria, Iamsai, Piriyaporn, Christian, Ponchaux, Viboonjuntra, Pongtep, Rojnuckarin, Ponlapat, Ho, Prahlad, Mutirangura, Pramook, Wells, Rachel, Martinez, Rafael, Miranda, Raimundo Tirado, Kroening, Ralf, Ratsela, Rapule, Reyes, Raquel Lopez, de Leon, Raul Franco Diaz, Wong, Raymond Siu Ming, Alikhan, Raz, Jerwan-Keim, Reinhold, Otero, Remedios, Murena-Schmidt, Renate, Canevascini, Reto, Ferkl, Richard, White, Richard, Van Herreweghe, Rika, Santoro, Rita, Klamroth, Robert, Mendes, Robert, Prosecky, Robert, Cappelli, Roberto, Spacek, Rudolf, Singh, Rupesh, Griffin, Sam, Na, Sang Hoon, Chunilal, Sanjeev, Middeldorp, Saskia, Nakazawa, Satoshi, Schellong, Sebastian, Toh, See Guan, Christophe, Seinturier, Isbir, Selim, Raymundo, Selma, Ting, Seng Kiat, Motte, Serge, Aktogu, Serir Ozkan, Donders, Servaas, Cha, Seung Ick, Nam, Seung-Hyun, Marie-Antoinette, Sevestre-Pietri, Maasdorp, Shaun, Sun, Shenghua, Wang, Shenming, Essameldin, Sherif Mohamed, Sholkamy, Sherif Mohamed, Kuki, Shintaro, Goto, Shinya, Yoshida, Shuichi, Matsuoka, Shunzo, McRae, Simon, Watt, Simon, Patanasing, Siriwimon, Jean-Léopold, Siwe-Nana, Wongkhantee, Somchai, Bang, Soo-Mee, Testa, Sophie, Zemek, Stanislav, Behrens, Steffen, Dominique, Stephan, Mellor, Stuart, Singh, Suaran Singh Gurcharan, Datta, Sudip, Chayangsu, Sunee, Solymoss, Susan, Everington, Tamara, Abdel-Azim, Tarek Ahmed Adel, Suwanban, Tawatchai, Adademir, Taylan, Hart, Terence, Béatrice, Terriat, Luvhengo, Thifhelimbilu, Horacek, Thomas, Zeller, Thomas, Boussy, Tim, Reynolds, Tim, Biss, Tina, Chao, Ting-Hsing, Casabella, Tomas Smith, Onodera, Tomoya, Numbenjapon, Tontanai, Gerdes, Victor, Cech, Vladimir, Krasavin, Vladimir, Tolstikhin, Vladimir, Bax, W.A., Malek, Wagih Fawzy Abdel, Ho, Wai Khoon, Ageno, Walter, Pharr, Walter, Jiang, Weihong, Lin, Wei-Hsiang, Zhang, Weihua, Tseng, Wei-Kung, Lai, Wen-Ter, De Backer, Wilfried, Haverkamp, Wilhelm, Yoshida, Winston, Korte, Wolfgang, Choi, Won Il, Kim, Yang-Ki, Tanabe, Yasuhiro, Ohnuma, Yasushi, Mun, Yeung-Chul, Balthazar, Yohan, Park, Yong, Shibata, Yoshisato, Burov, Yuriy, Subbotin, Yuriy, Coufal, Zdenek, Yang, Zhenwen, Jing, Zhicheng, Yang, Zhongqi, Turpie, Alexander G.G., Farjat, Alfredo E., Haas, Sylvia, Weitz, Jeffrey I., Goldhaber, Samuel Z., Kayani, Gloria, Lopes, Renato D., Tse, Eric, Muntaner, Juan, Prandoni, Paolo, Maheshwari, Uma, and Kakkar, Ajay K.

Published
2023
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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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7. 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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8. Apixaban overdose in children:case report and proposed management. A brief communication from the Pediatric and Neonatal Thrombosis and Hemostasis SSC of ISTH

Author

Wiggins, Meredith, Biss, Tina, Raffini, Leslie, Van Ommen, Heleen, Chan, Anthony, Vanderpluym, Christina, Goldenberg, Neil, Monagle, Paul, Wiggins, Meredith, Biss, Tina, Raffini, Leslie, Van Ommen, Heleen, Chan, Anthony, Vanderpluym, Christina, Goldenberg, Neil, and Monagle, Paul

Abstract

Background: Direct oral anticoagulants are commonly prescribed for adults and increasingly also for children requiring anticoagulation therapy. While household medications should not be accessible to children, accidental, and intentional overdoses occur. Key Clinical Question: How should apixaban overdose in children be managed?. Clinical Approach: We present a case of an accidental overdose with the factor Xa antagonist apixaban in a young child and propose an approach to the management of cases of apixaban overdose in children. Conclusion: Given the increasing use of direct oral anticoagulants, it is important to have an approach to the management of overdose of these medications.

Published
2024

9. CYP2C9, VKORC1, and CYP4F2 polymorphisms and pediatric warfarin maintenance dose: a systematic review and meta-analysis

Author

Takeuchi, Masanobu, Kobayashi, Tohru, Biss, Tina, Kamali, Farhad, Vear, Susan I., Ho, Richard H., Bajolle, Fanny, Loriot, Marie-Anne, Shaw, Kaitlyn, Carleton, Bruce C., Hamberg, Anna-Karin, Wadelius, Mia, Hirono, Keiichi, Taguchi, Masato, Wakamiya, Takuya, Yanagimachi, Masakatsu, Hirai, Keita, Itoh, Kunihiko, Brandão, Leonardo R., and Ito, Shinya

Published
2020
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10. Bodyweight-adjusted rivaroxaban for children with venous thromboembolism (EINSTEIN-Jr): results from three multicentre, single-arm, phase 2 studies

Author

Monagle, Paul, Robertson, Jeremy, Grangl, Gernot, Male, Christoph, Streif, Werner, Carniero, Jorge, Logetto, Sandra, Brandao, Leonardo, Halton, Jacqueline, Amedro, Pascal, Bonnet, Damien, Beyer-Westendorf, Jan, Dietrich, Sven, Holzhauer, Susanne, Nowak-Göttl, Ulrike, Kallay, Krisztian, Kenet, Gili, Revel-Vilk, Shoshana, Tamary, Hannah, Giordano, Paola, Abbattista, Maria, Artoni, Andrea, Molinari, Angelo C, Saracco, Paola, Simioni, Paolo, Tormene, Daniela, Ono, Hiroshi, Te Loo, Maroeska WM, Van Ommen, Heleen, Veening, Margreet A, Suiker, Monique H, Peters, Marjolein, Samochatova, Elena, Shamardina, Anastasia, Novgorod, Nizhny, Zubarovskaya, Lyudmila, Dasi, Maria A, Elorza, Maria, Santamaria, Amparo, Sánchez-Luna, Manuel, Albisetti, Manuela, Grunt, Sebastian, Kavakli, Kaan, Biss, Tina, Connor, Philip, Williams, Mike, Acharya, Suchitra, Bhat, Rumi, Kearney, Susan, Kumar, Riten, Patel, Kavita, Rajpukar, Madvi, Schwartz, Jeffrey H, Vik, Terry, Wynn, Tung, Yee, Donald L, Young, Guy, Lensing, Anthonie W A, Thelen, Kirstin, Martinelli, Ida, Santamaría, Amparo, Connor, Phillip, Kapsa, Stefanie, Willmann, Stefan, Pap, Akos F, Becka, Michael, Twomey, Teresa, Prins, Martin H, and Kubitza, Dagmar

Published
2019
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11. Anticoagulation therapy patterns for acute treatment of venous thromboembolism in GARFIELD‐VTE patients

Author

Haas, Sylvia, Ageno, Walter, Weitz, Jeffrey I., Goldhaber, Samuel Z., Turpie, Alexander G.G., Goto, Shinya, Angchaisuksiri, Pantep, Dalsgaard Nielsen, Joern, Kayani, Gloria, Zaghdoun, Audrey, Farjat, Alfredo E., Schellong, Sebastian, Bounameaux, Henri, Mantovani, Lorenzo G., Prandoni, Paolo, Kakkar, Ajay K., Loualidi, Ab, Colak, Abdurrahim, Bezuidenhout, Abraham, Abdool‐Carrim, Abu, Azeddine, Addala, Beyers, Adriaan, Dees, Adriaan, Mohamed, Ahmed, Aksoy, Ahmet, Abiko, Akihiko, Watanabe, Akinori, Krichell, Alan, Fernandez, Alberto Alfredo, Tosetto, Alberto, Khotuntsov, Alexey, Oropallo, Alisha, Slocombe, Alison, Kelly, Allan, Clark, Amanda, Gad, Amr, Arouni, Amy, Schmidt, Andor, Berni, Andrea, Kleiban, Andres Javier, Machowski, Andrew, Kazakov, Andrey, Galvez, Angel, Lockman, Ann, Falanga, Anna, Chauhan, Anoop, Riera‐Mestre, Antoni, Mazzone, Antonino, D'Angelo, Armando, Herdy, Artur, Kato, Atsushi, Ebrahim, Ayman Abd Elhamid, Salem, Mahmoud, Husin, Azlan, Erdelyi, Barbara, Jacobson, Barry, Amann‐Vesti, Beatrice, Battaloglu, Bektas, Wilson, Benedicte, Cosmi, Benilde, Francois, Bergmann Jean, Toufek, Berremeli, Hunt, Beverley, Natha, Bhavesh, Mustafa, Bisher, Kho, Bonnie Chi Shan, Carine, Boulon, Zidel, Brian, Dominique, Brisot, Christophe, Brousse, Trimarco, Bruno, Luo, Canhua, Alberto Cuneo, Carlos, Sanchez Diaz, Carlos Jerjes, Schwencke, Carsten, Cader, Cas, Yavuz, Celal, Javier Zaidman, Cesar, Lunn, Charles, Wu, Chau‐Chung, Toh, Cheng Hock, Chiang, Chern‐En, Elisa, Chevrier, Hsia, Chien‐Hsun, Huang, Chien‐Lung, Kwok, Chi‐Hang Kevin, Wu, Chih‐Cheng, Huang, Chi‐Hung, Ward, Chris, Opitz, Christian, Jeanneret‐Gris, Christina, Ha, Chung Yin, Huang, Chun‐Yao, Bidi, Claude Luyeye, Smith, Clifford, Brauer, Cornelia, Lodigiani, Corrado, Francis, Couturaud, Wu, Cynthia, Staub, Daniel, Theodoro, Daniel, Poli, Daniela, Acevedo, Riesco, Adler, David, Jimenez, David, Keeling, David, Scott, David, Imberti, Davide, Creagh, Desmond, Helene, Desmurs‐Clavel, Hagemann, Dirk, Le Roux, Dirk, Skowasch, Dirk, Belenky, Dmitry, Dorokhov, Dmitry, Petrov, Dmitry, Zateyshchikov, Dmitry, Prisco, Domenico, Møller, Dorthe, Kucera, Dusan, Esheiba, Ehab M., Panchenko, Elizaveta, Dominique, Elkouri, Dogan, Emre, Kubat, Emre, Diaz Diaz, Enrique, Tse, Eric Wai Choi, Yeo, Erik, Hashas, Erman, Grochenig, Ernst, Tiraferri, Eros, Blessing, Erwin, Michèle, Escande Orthlieb, Usandizaga, Esther, Porreca, Ettore, Ferroni, Fabian, Nicolas, Falvo, Ayala‐Paredes, Félix, Koura, Firas, Henry, Fitjerald, Cosmi, Franco, Erdkamp, Frans, Kamalov, Gadel, Dalmau, Garcia‐Bragado, Damien, Garrigues, Klein, Garry, Shah, Gaurand, Hollanders, Geert, Merli, Geno, Plassmann, Georg, Platt, George, Poirier, Germain, Sokurenko, German, Haddad, Ghassan, Ali, Gholam, Agnelli, Giancarlo, Gan, Gin Gin, Kaye‐Eddie, Grace, Le Gal, Gregoire, Allen, Gregory, Llamas Esperón, Guillermo Antonio, Jean‐Paul, Guillot, Gerofke, Hagen, Elali, Hallah, Burianova, Hana, Ohler, Hans‐Juergen, Wang, Haofu, Darius, Harald, Gogia, Harinder S., Striekwold, Harry, Gibbs, Harry, Hasanoglu, Hatice, Turker, Hatice, Franow, Hendrik, De Raedt, Herbert, Schroe, Herman, ElDin, Hesham Salah, Zidan, Hesham, Nakamura, Hiroaki, Kim, Ho Young, Lawall, Holger, Zhu, Hong, Tian, Hongyan, Yhim, Ho‐Young, ten Cate, Hugo, Hwang, Hun Gyu, Shim, Hyeok, Kim, Igor, Libov, Igor, Sonkin, Igor, Suchkov, Igor, Song, Ik‐Chan, Kiris, Ilker, Staroverov, Ilya, Looi, Irene, De La Azuela Tenorio, Isabel M, Savas, Ismail, Gordeev, Ivan, Podpera, Ivo, Lee, Jae Hoon, Sathar, Jameela, Welker, James, Beyer‐Westendorf, Jan, Kvasnicka, Jan, Vanwelden, Jan, Kim, JangYong, Svobodova, Jaromira, Gujral, Jaspal, Marino, Javier, Galvar, Javier Tristan, Kassis, Jeannine, Kuo, Jen‐Yuan, Shih, Jhih‐Yuan, Kwon, JiHyun, Joh, Jin Hyun, Park, Jin Hyun, Kim, Jin Seok, Yang, Jinghua, Krupicka, Jiri, Lastuvka, Jiri, Pumprla, Jiri, Vesely, Jiri, Carlos Souto, Joan, Antônio Correa, João, Duchateau, Johan, Fletcher, John Perry, del Toro, Jorge, Chavez Paez, Jorge Guillermo, Araujo Filho, Jose Dalmo, Saraiva, Jose, Diaz Peromingo, Jose Antonio, Gomez Lara, Jose, Luis Fedele, Jose, Maria Surinach, Jose, Chacko, Joseph, Antonio Muntaner, Juan, Álvarez Benitez, Juan Carlos, Hoyos Abril, Juan Moreno, Humphrey, Julian, Bono, Julio, Kanda, Junji, Boondumrongsagoon, Juree, Yiu, Kai Hang, Chansung, Kanchana, Boomars, Karin, Burbury, Kate, Kondo, Katsuhiro, Karaarslan, Kemal, Takeuchi, Kensuke, Kroeger, Knut, Zrazhevskiy, Konstantin, Svatopluk, Koscál, Shyu, Kou‐Gi, Vandenbosch, Kristel, Chang, Kuan‐Cheng, Chiu, Kuan‐Ming, Jean‐Manuel, Kubina, Wern, Kwan Jing, Ueng, Kwo‐Chang, Norasetthada, Lalita, Binet, Laure, Chew, Lee Ping, Zhang, Lei, Cristina, Leone Maria, Tick, Lidwine, Beatriz Schiavi, Lilia, Wong, Lily Lee Lee, Borges, Lohana, Botha, Louis, Capiau, Luc, Timmermans, Luc, Eduardo López, Luciano, Ria, Luigi, Hernandez Blasco, Luis Manuel, Guzman, Luis Alberto, Flota Cervera, Luis, Isabelle, Mahe, Monreal Bosch, Manuel, de los Rios Ibarra, Manuel, Núñez Fernandez, Manuel, Carrier, Marc, Raul Barrionuevo, Marcelo, Alcocer Gamba, Marco Antonio, Cattaneo, Marco, Moia, Marco, Bowers, Margaret, Chetanachan, Mariam, Berli, Mario Alberto, Fixley, Mark, Faghih, Markus, Stuecker, Markus, Schul, Marlin, Banyai, Martin, Koretzky, Martin, Myriam, Martin, Gaffney, Mary Elizabeth, Hirano, Masao, Kanemoto, Masashi, Nakamura, Mashio, Tahar, Mersel, Emmanuel, Messas, Kovacs, Michael, Leahy, Michael, Levy, Michael, Munch, Michael, Olsen, Michael, De Pauw, Michel, Gustin, Michel, Van Betsbrugge, Michiel, Boyarkin, Mikhail, Homza, Miroslav, Koto, Modise, Abdool‐Gaffar, Mohamed, Nagib, Mohamed Ayman Fakhry, El‐Dessoki, Mohamed, Khan, Mohamed, Mohamed, Monniaty, Kim, Moo Hyun, Lee, Moon‐Hee, Soliman, Mosaad, Ahmed, Mostafa Shawky, el Bary, Mostafa Soliman Abd, Moustafa, Moustafa A., Hameed, Muhammad, Kanko, Muhip, Majumder, Mujibur, Zubareva, Nadezhda, Mumoli, Nicola, Abdullah, Nik Azim Nik, Makruasi, Nisa, Paruk, Nishen, Kanitsap, Nonglak, Duda, Norberto, Nordin, Nordiana, Nyvad, Ole, Barbarash, Olga, Gurbuz, Orcun, Vilamajo, Oscar Gomez, Nandayapa Flores, Oscar, Gur, Ozcan, Oto, Oztekin, Javier Marchena, Pablo, Carroll, Patrick, Lang, Pavel, MacCallum, Peter, von Bilderling, Peter Baron, Blombery, Peter, Verhamme, Peter, Jansky, Petr, Bernadette, Peuch, De Vleeschauwer, Philippe, Hainaut, Philippe, Ferrini, Piera Maria, Iamsai, Piriyaporn, Christian, Ponchaux, Viboonjuntra, Pongtep, Rojnuckarin, Ponlapat, Ho, Prahlad, Mutirangura, Pramook, Wells, Rachel, Martinez, Rafael, Miranda, Raimundo Tirado, Kroening, Ralf, Ratsela, Rapule, Reyes, Raquel Lopez, Diaz de Leon, Raul Franco, Wong, Raymond Siu Ming, Alikhan, Raz, Jerwan‐Keim, Reinhold, Otero, Remedios, Murena‐Schmidt, Renate, Canevascini, Reto, Ferkl, Richard, White, Richard, Van Herreweghe, Rika, Santoro, Rita, Klamroth, Robert, Mendes, Robert, Prosecky, Robert, Cappelli, Roberto, Spacek, Rudolf, Singh, Rupesh, Griffin, Sam, Na, Sang Hoon, Chunilal, Sanjeev, Middeldorp, Saskia, Nakazawa, Satoshi, Toh, See Guan, Christophe, Seinturier, Isbir, Selim, Raymundo, Selma, Ting, Seng Kiat, Motte, Serge, Aktogu, Serir Ozkan, Donders, Servaas, Cha, Seung Ick, Nam, Seung‐Hyun, Marie‐Antoinette, Sevestre‐Pietri, Maasdorp, Shaun, Sun, Shenghua, Wang, Shenming, Essameldin, Sherif Mohamed, Sholkamy, Sherif Mohamed, Kuki, Shintaro, Yoshida, Shuichi, Matsuoka, Shunzo, McRae, Simon, Watt, Simon, Patanasing, Siriwimon, Jean‐Léopold, Siwe‐Nana, Wongkhantee, Somchai, Bang, Soo‐Mee, Testa, Sophie, Zemek, Stanislav, Behrens, Steffen, Dominique, Stephan, Mellor, Stuart, Singh, Suaran Singh Gurcharan, Datta, Sudip, Chayangsu, Sunee, Solymoss, Susan, Everington, Tamara, Abdel‐Azim, Tarek Ahmed Adel, Suwanban, Tawatchai, Adademir, Taylan, Hart, Terence, Béatrice, Terriat, Luvhengo, Thifhelimbilu, Horacek, Thomas, Zeller, Thomas, Boussy, Tim, Reynolds, Tim, Biss, Tina, Chao, Ting‐Hsing, Casabella, Tomas Smith, Onodera, Tomoya, Numbenjapon, Tontanai, Gerdes, Victor, Cech, Vladimir, Krasavin, Vladimir, Tolstikhin, Vladimir, Bax, W.A., Malek, Wagih Fawzy Abdel, Ho, Wai Khoon, Pharr, Walter, Jiang, Weihong, Lin, Wei‐Hsiang, Zhang, Weihua, Tseng, Wei‐Kung, Lai, Wen‐Ter, De Backer, Wilfried, Haverkamp, Wilhelm, Yoshida, Winston, Korte, Wolfgang, Choi, Won II, Kim, Yang‐Ki, Tanabe, Yasuhiro, Ohnuma, Yasushi, Mun, Yeung‐Chul, Balthazar, Yohan, Park, Yong, Shibata, Yoshisato, Burov, Yuriy, Subbotin, Yuriy, Coufal, Zdenek, Yang, Zhenwen, Jing, Zhicheng, and Yang, Zhongqi

Published
2019
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12. Characterization and treatment of congenital thrombotic thrombocytopenic purpura

Author

Alwan, Ferras, Vendramin, Chiara, Liesner, Ri, Clark, Amanda, Lester, William, Dutt, Tina, Thomas, William, Gooding, Richard, Biss, Tina, Watson, H.G., Cooper, Nichola, Rayment, Rachel, Cranfield, Tanya, van Veen, Joost J., Hill, Quentin A., Davis, Sarah, Motwani, Jayashree, Bhatnagar, Neha, Priddee, Nicole, David, Marianna, Crowley, Maeve P., Alamelu, Jayanthi, Lyall, Hamish, Westwood, John-Paul, Thomas, Mari, and Scully, Marie

Published
2019
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15. Identification of the factors influencing anticoagulation response to warfarin in children

Author

Biss, Tina Tracey

Subjects
615.7
Abstract

The requirement for anticoagulant therapy in children is increasing and warfarin remains the long-term anticoagulant agent of choice. However, little is known about the factors that influence inter-individual variability in response to warfarin among children. The aim of this MD was to gain a greater understanding of the factors that affect warfarin anticoagulant control and response in children. A retrospective study of a cohort of anticoagulated children identified factors contributing to poor anticoagulant control. It also highlighted the importance of the way in which anticoagulant control is assessed in children, with the study results showing that the use of a linear interpolation method may be more appropriate than the proportion of INRs within target range during intermittent periods of instability when INR measurements are carried out more frequently. A multi-centre, cross-sectional study of 120 children with stable anticoagulation with warfarin showed that 72% of the inter-individual variability in warfarin maintenance dose is accounted for by height, VKORC1 and CYP2C9 genotype, and indication for warfarin. The study results were used to develop a pharmacogenetics-based warfarin-dosing algorithm. The latter was demonstrated to have the power to accurately predict maintenance warfarin dose in an unrelated cohort of 23 children. Analysis of data for a subgroup of 51 children showed that VKORC1 and CYP2C9 genotype influence outcome variables during initiation of warfarin therapy, including peak INR response during week 1 and the proportion of supratherapeutic INRs during month 1 of therapy. The above findings have provided us with an insight into the factors influencing anticoagulant control and variability in response to warfarin in children. Application of a pharmacogenetics-based approach to initiation and maintenance warfarin therapy in children has the potential to improve efficacy and safety of warfarin therapy in this challenging patient population.

Published
2012

17. Presenting ADAMTS13 antibody and antigen levels predict prognosis in immune-mediated thrombotic thrombocytopenic purpura

Author

Alwan, Ferras, Vendramin, Chiara, Vanhoorelbeke, Karen, Langley, Katy, McDonald, Vickie, Austin, Steve, Clark, Amanda, Lester, William, Gooding, Richard, Biss, Tina, Dutt, Tina, Cooper, Nichola, Chapman, Oliver, Cranfield, Tanya, Douglas, Kenny, Watson, H.G., van Veen, J.J., Sibson, Keith, Thomas, William, Manson, Lynn, Hill, Quentin A., Benjamin, Sylvia, Ellis, Debra, Westwood, John-Paul, Thomas, Mari, and Scully, Marie

Published
2017
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18. 36-month clinical outcomes of patients with venous thromboembolism: GARFIELD-VTE

Author

Turpie, Alexander G.G., primary, Farjat, Alfredo E., additional, Haas, Sylvia, additional, Ageno, Walter, additional, Weitz, Jeffrey I., additional, Goldhaber, Samuel Z., additional, Goto, Shinya, additional, Angchaisuksiri, Pantep, additional, Kayani, Gloria, additional, Lopes, Renato D., additional, Chiang, Chern-En, additional, Gibbs, Harry, additional, Tse, Eric, additional, Verhamme, Peter, additional, ten Cate, Hugo, additional, Muntaner, Juan, additional, Schellong, Sebastian, additional, Bounameaux, Henri, additional, Prandoni, Paolo, additional, Maheshwari, Uma, additional, Kakkar, Ajay K., additional, Loualidi, Ab, additional, Colak, Abdurrahim, additional, Bezuidenhout, Abraham, additional, Abdool-Carrim, Abu, additional, Azeddine, Addala, additional, Beyers, Adriaan, additional, Dees, Adriaan, additional, Mohamed, Ahmed, additional, Aksoy, Ahmet, additional, Abiko, Akihiko, additional, Watanabe, Akinori, additional, Krichell, Alan, additional, Fernandez, Alberto Alfredo, additional, Tosetto, Alberto, additional, Khotuntsov, Alexey, additional, Oropallo, Alisha, additional, Slocombe, Alison, additional, Kelly, Allan, additional, Clark, Amanda, additional, Gad, Amr, additional, Arouni, Amy, additional, Schmidt, Andor, additional, Berni, Andrea, additional, Kleiban, Andres Javier, additional, Machowski, Andrew, additional, Kazakov, Andrey, additional, Galvez, Angel, additional, Lockman, Ann, additional, Falanga, Anna, additional, Chauhan, Anoop, additional, Riera-Mestre, Antoni, additional, Mazzone, Antonino, additional, D'Angelo, Armando, additional, Herdy, Artur, additional, Kato, Atsushi, additional, Salem, Ayman Abd Elhamid Ebrahim Mahmoud, additional, Husin, Azlan, additional, Erdelyi, Barbara, additional, Jacobson, Barry, additional, Amann-Vesti, Beatrice, additional, Battaloglu, Bektas, additional, Wilson, Benedicte, additional, Cosmi, Benilde, additional, Francois, Bergmann Jean, additional, Toufek, Berremeli, additional, Hunt, Beverley, additional, Natha, Bhavesh, additional, Mustafa, Bisher, additional, Kho, Bonnie Chi Shan, additional, Carine, Boulon, additional, Zidel, Brian, additional, Dominique, Brisot, additional, Christophe, Brousse, additional, Trimarco, Bruno, additional, Luo, Canhua, additional, Cuneo, Carlos Alberto, additional, Diaz, Carlos Jerjes Sanchez, additional, Schwencke, Carsten, additional, Cader, Cas, additional, Yavuz, Celal, additional, Zaidman, Cesar Javier, additional, Lunn, Charles, additional, Wu, Chau-Chung, additional, Toh, Cheng Hock, additional, Elisa, Chevrier, additional, Hsia, Chien-Hsun, additional, Huang, Chien-Lung, additional, Kwok, Chi-Hang Kevin, additional, Wu, Chih-Cheng, additional, Huang, Chi-Hung, additional, Ward, Chris, additional, Opitz, Christian, additional, Jeanneret-Gris, Christina, additional, Ha, Chung Yin, additional, Huang, Chun-Yao, additional, Bidi, Claude Luyeye, additional, Smith, Clifford, additional, Brauer, Cornelia, additional, Lodigiani, Corrado, additional, Francis, Couturaud, additional, Wu, Cynthia, additional, Staub, Daniel, additional, Theodoro, Daniel, additional, Poli, Daniela, additional, Acevedo, David - Riesco, additional, Adler, David, additional, Jimenez, David, additional, Keeling, David, additional, Scott, David, additional, Imberti, Davide, additional, Creagh, Desmond, additional, Helene, Desmurs-Clavel, additional, Hagemann, Dirk, additional, Le Roux, Dirk, additional, Skowasch, Dirk, additional, Belenky, Dmitry, additional, Dorokhov, Dmitry, additional, Petrov, Dmitry, additional, Zateyshchikov, Dmitry, additional, Prisco, Domenico, additional, Møller, Dorthe, additional, Kucera, Dusan, additional, Esheiba, Ehab M., additional, Panchenko, Elizaveta, additional, Dominique, Elkouri, additional, Dogan, Emre, additional, Kubat, Emre, additional, Diaz, Enrique Diaz, additional, Tse, Eric Wai Choi, additional, Yeo, Erik, additional, Hashas, Erman, additional, Grochenig, Ernst, additional, Tiraferri, Eros, additional, Blessing, Erwin, additional, Michèle, Escande Orthlieb, additional, Usandizaga, Esther, additional, Porreca, Ettore, additional, Ferroni, Fabian, additional, Nicolas, Falvo, additional, Ayala-Paredes, Félix, additional, Koura, Firas, additional, Henry, Fitjerald, additional, Cosmi, Franco, additional, Erdkamp, Frans, additional, Kamalov, Gadel, additional, Dalmau, Garcia-Bragado, additional, Damien, Garrigues, additional, Klein, Garry, additional, Shah, Gaurand, additional, Hollanders, Geert, additional, Merli, Geno, additional, Plassmann, Georg, additional, Platt, George, additional, Poirier, Germain, additional, Sokurenko, German, additional, Haddad, Ghassan, additional, Ali, Gholam, additional, Agnelli, Giancarlo, additional, Gan, Gin Gin, additional, Kaye-Eddie, Grace, additional, Le Gal, Gregoire, additional, Allen, Gregory, additional, Esperón, Guillermo Antonio Llamas, additional, Jean-Paul, Guillot, additional, Gerofke, Hagen, additional, Elali, Hallah, additional, Burianova, Hana, additional, Ohler, Hans-Juergen, additional, Wang, Haofu, additional, Darius, Harald, additional, Gogia, Harinder S., additional, Striekwold, Harry, additional, Hasanoglu, Hatice, additional, Turker, Hatice, additional, Franow, Hendrik, additional, De Raedt, Herbert, additional, Schroe, Herman, additional, ElDin, Hesham Salah, additional, Zidan, Hesham, additional, Nakamura, Hiroaki, additional, Kim, Ho Young, additional, Lawall, Holger, additional, Zhu, Hong, additional, Tian, Hongyan, additional, Yhim, Ho-Young, additional, Hwang, Hun Gyu, additional, Shim, Hyeok, additional, Kim, Igor, additional, Libov, Igor, additional, Sonkin, Igor, additional, Suchkov, Igor, additional, Song, Ik-Chan, additional, Kiris, Ilker, additional, Staroverov, Ilya, additional, Looi, Irene, additional, De La Azuela Tenorio, Isabel M., additional, Savas, Ismail, additional, Gordeev, Ivan, additional, Podpera, Ivo, additional, Lee, Jae Hoon, additional, Sathar, Jameela, additional, Welker, James, additional, Beyer-Westendorf, Jan, additional, Kvasnicka, Jan, additional, Vanwelden, Jan, additional, Kim, JangYong, additional, Svobodova, Jaromira, additional, Gujral, Jaspal, additional, Marino, Javier, additional, Galvar, Javier Tristan, additional, Kassis, Jeannine, additional, Kuo, Jen-Yuan, additional, Shih, Jhih-Yuan, additional, Kwon, JiHyun, additional, Joh, Jin Hyun, additional, Park, Jin Hyun, additional, Kim, Jin Seok, additional, Yang, Jinghua, additional, Krupicka, Jiri, additional, Lastuvka, Jiri, additional, Pumprla, Jiri, additional, Vesely, Jiri, additional, Souto, Joan Carlos, additional, Correa, João Antônio, additional, Duchateau, Johan, additional, Fletcher, John Perry, additional, del Toro, Jorge, additional, Paez, Jorge Guillermo Chavez, additional, Nielsen, Jørn, additional, Filho, Jose Dalmo Araujo, additional, Saraiva, Jose, additional, Peromingo, Jose Antonio Diaz, additional, Lara, Jose Gomez, additional, Fedele, Jose Luis, additional, Surinach, Jose Maria, additional, Chacko, Joseph, additional, Muntaner, Juan Antonio, additional, Benitez, Juan Carlos Álvarez, additional, Abril, Juan Moreno Hoyos, additional, Humphrey, Julian, additional, Bono, Julio, additional, Kanda, Junji, additional, Boondumrongsagoon, Juree, additional, Yiu, Kai Hang, additional, Chansung, Kanchana, additional, Boomars, Karin, additional, Burbury, Kate, additional, Kondo, Katsuhiro, additional, Karaarslan, Kemal, additional, Takeuchi, Kensuke, additional, Kroeger, Knut, additional, Zrazhevskiy, Konstantin, additional, Svatopluk, Koscál, additional, Shyu, Kou-Gi, additional, Vandenbosch, Kristel, additional, Chang, Kuan-Cheng, additional, Chiu, Kuan-Ming, additional, Jean-Manuel, Kubina, additional, Wern, Kwan Jing, additional, Ueng, Kwo-Chang, additional, Norasetthada, Lalita, additional, Binet, Laure, additional, Chew, Lee Ping, additional, Zhang, Lei, additional, Cristina, Leone Maria, additional, Tick, Lidwine, additional, Schiavi, Lilia Beatriz, additional, Wong, Lily Lee Lee, additional, Borges, Lohana, additional, Botha, Louis, additional, Capiau, Luc, additional, Timmermans, Luc, additional, López, Luciano Eduardo, additional, Ria, Luigi, additional, Blasco, Luis Manuel Hernandez, additional, Guzman, Luis Alberto, additional, Cervera, Luis Flota, additional, Isabelle, Mahe, additional, Bosch, Manuel Monreal, additional, de los Rios Ibarra, Manuel, additional, Fernandez, Manuel Núñez, additional, Carrier, Marc, additional, Barrionuevo, Marcelo Raul, additional, Gamba, Marco Antonio Alcocer, additional, Cattaneo, Marco, additional, Moia, Marco, additional, Bowers, Margaret, additional, Chetanachan, Mariam, additional, Berli, Mario Alberto, additional, Fixley, Mark, additional, Faghih, Markus, additional, Stuecker, Markus, additional, Schul, Marlin, additional, Banyai, Martin, additional, Koretzky, Martin, additional, Myriam, Martin, additional, Gaffney, Mary Elizabeth, additional, Hirano, Masao, additional, Kanemoto, Masashi, additional, Nakamura, Mashio, additional, Tahar, Mersel, additional, Emmanuel, Messas, additional, Kovacs, Michael, additional, Leahy, Michael, additional, Levy, Michael, additional, Munch, Michael, additional, Olsen, Michael, additional, De Pauw, Michel, additional, Gustin, Michel, additional, Van Betsbrugge, Michiel, additional, Boyarkin, Mikhail, additional, Homza, Miroslav, additional, Koto, Modise, additional, Abdool-Gaffar, Mohamed, additional, Nagib, Mohamed Ayman Fakhry, additional, El-Dessoki, Mohamed, additional, Khan, Mohamed, additional, Mohamed, Monniaty, additional, Kim, Moo Hyun, additional, Lee, Moon-Hee, additional, Soliman, Mosaad, additional, Ahmed, Mostafa Shawky, additional, el Bary, Mostafa Soliman Abd, additional, Moustafa, Moustafa A., additional, Hameed, Muhammad, additional, Kanko, Muhip, additional, Majumder, Mujibur, additional, Zubareva, Nadezhda, additional, Mumoli, Nicola, additional, Abdullah, Nik Azim Nik, additional, Makruasi, Nisa, additional, Paruk, Nishen, additional, Kanitsap, Nonglak, additional, Duda, Norberto, additional, Nordin, Nordiana, additional, Nyvad, Ole, additional, Barbarash, Olga, additional, Gurbuz, Orcun, additional, Vilamajo, Oscar Gomez, additional, Flores, Oscar Nandayapa, additional, Gur, Ozcan, additional, Oto, Oztekin, additional, Marchena, Pablo Javier, additional, Carroll, Patrick, additional, Lang, Pavel, additional, MacCallum, Peter, additional, von Bilderling, Peter Baron, additional, Blombery, Peter, additional, Jansky, Petr, additional, Bernadette, Peuch, additional, De Vleeschauwer, Philippe, additional, Hainaut, Philippe, additional, Ferrini, Piera Maria, additional, Iamsai, Piriyaporn, additional, Christian, Ponchaux, additional, Viboonjuntra, Pongtep, additional, Rojnuckarin, Ponlapat, additional, Ho, Prahlad, additional, Mutirangura, Pramook, additional, Wells, Rachel, additional, Martinez, Rafael, additional, Miranda, Raimundo Tirado, additional, Kroening, Ralf, additional, Ratsela, Rapule, additional, Reyes, Raquel Lopez, additional, de Leon, Raul Franco Diaz, additional, Wong, Raymond Siu Ming, additional, Alikhan, Raz, additional, Jerwan-Keim, Reinhold, additional, Otero, Remedios, additional, Murena-Schmidt, Renate, additional, Canevascini, Reto, additional, Ferkl, Richard, additional, White, Richard, additional, Van Herreweghe, Rika, additional, Santoro, Rita, additional, Klamroth, Robert, additional, Mendes, Robert, additional, Prosecky, Robert, additional, Cappelli, Roberto, additional, Spacek, Rudolf, additional, Singh, Rupesh, additional, Griffin, Sam, additional, Na, Sang Hoon, additional, Chunilal, Sanjeev, additional, Middeldorp, Saskia, additional, Nakazawa, Satoshi, additional, Toh, See Guan, additional, Christophe, Seinturier, additional, Isbir, Selim, additional, Raymundo, Selma, additional, Ting, Seng Kiat, additional, Motte, Serge, additional, Aktogu, Serir Ozkan, additional, Donders, Servaas, additional, Cha, Seung Ick, additional, Nam, Seung-Hyun, additional, Marie-Antoinette, Sevestre-Pietri, additional, Maasdorp, Shaun, additional, Sun, Shenghua, additional, Wang, Shenming, additional, Essameldin, Sherif Mohamed, additional, Sholkamy, Sherif Mohamed, additional, Kuki, Shintaro, additional, Yoshida, Shuichi, additional, Matsuoka, Shunzo, additional, McRae, Simon, additional, Watt, Simon, additional, Patanasing, Siriwimon, additional, Jean-Léopold, Siwe-Nana, additional, Wongkhantee, Somchai, additional, Bang, Soo-Mee, additional, Testa, Sophie, additional, Zemek, Stanislav, additional, Behrens, Steffen, additional, Dominique, Stephan, additional, Mellor, Stuart, additional, Singh, Suaran Singh Gurcharan, additional, Datta, Sudip, additional, Chayangsu, Sunee, additional, Solymoss, Susan, additional, Everington, Tamara, additional, Abdel-Azim, Tarek Ahmed Adel, additional, Suwanban, Tawatchai, additional, Adademir, Taylan, additional, Hart, Terence, additional, Béatrice, Terriat, additional, Luvhengo, Thifhelimbilu, additional, Horacek, Thomas, additional, Zeller, Thomas, additional, Boussy, Tim, additional, Reynolds, Tim, additional, Biss, Tina, additional, Chao, Ting-Hsing, additional, Casabella, Tomas Smith, additional, Onodera, Tomoya, additional, Numbenjapon, Tontanai, additional, Gerdes, Victor, additional, Cech, Vladimir, additional, Krasavin, Vladimir, additional, Tolstikhin, Vladimir, additional, Bax, W.A., additional, Malek, Wagih Fawzy Abdel, additional, Ho, Wai Khoon, additional, Pharr, Walter, additional, Jiang, Weihong, additional, Lin, Wei-Hsiang, additional, Zhang, Weihua, additional, Tseng, Wei-Kung, additional, Lai, Wen-Ter, additional, De Backer, Wilfried, additional, Haverkamp, Wilhelm, additional, Yoshida, Winston, additional, Korte, Wolfgang, additional, Choi, Won Il, additional, Kim, Yang-Ki, additional, Tanabe, Yasuhiro, additional, Ohnuma, Yasushi, additional, Mun, Yeung-Chul, additional, Balthazar, Yohan, additional, Park, Yong, additional, Shibata, Yoshisato, additional, Burov, Yuriy, additional, Subbotin, Yuriy, additional, Coufal, Zdenek, additional, Yang, Zhenwen, additional, Jing, Zhicheng, additional, and Yang, Zhongqi, additional

Published
2023
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20. A HaemSTAR-led, UK-wide 'flash-mob’ audit of ­intravenous immunoglobulin use in immune ­thrombocytopenia

Author

Nicolson, Phillip, Perry, Rita, Fisher, Amelia, Scott, Gemma, Magill, Laura, Chan-Lam, Dominique, Thorpe, Alice, Macheta, Mac, Carter-Brzezinski, Luke, Ackroyd, Sam, Katumba, Alvin, Bradbury, Charlotte, Jen, Sheila, Camillieri, Marquita, Besser, Martin, Bull, Tom, Leighton, Katherine, Ayalew, Yezenash, Willan, John, Watson, Edmund, Oshinyemi, Pamela, Upadhye, Yogesh, Pickard, Keir, Swart-Rimmer, Imogen, Knott, Chloe, Chown, Sally, Crolla, Francesca, Quinn, Daire, McLeod-Kennedy, Lindsay, Oun, Hajer, McDermott, Christopher, Walker, Mairi, Mullally, Ryan, Herlihy, Naoimh, Shah, Gulnaz, Doyle, Andrew, Robinson, Susan, Sayar, Zara, Pryor, Rebecca, Peet, Chris, Shenouda, Amir, Venkatadasari, Indrani, Cartier, Jorge, Akay, Melek, Tsitsikas, Dimitris, Sivapalaratnam, Suthesh, Cooper, Nichola, Lentaigne, Claire, Bailey, Chris, Xu, Dan Mei, Janum, Sine, Mohan, Arunodaya, Kimberger, Katja, Kgologolo, Maipelo, Sevillano, Belen, Hanina, Sophie, Danga, Akila, Mustafa, Chira, Wilding, Charlotte, Trikha, Roochi, Wang, Han, Crossette-Thambiah, Cristina, Hastings, Andrew, Sreedhara, Sree, Wright, David, Batey, Laura, Atkin, Abigail, Davis, Sarah, Jaafar, Sarah, Ejaz, Ayesha, Biss, Tina, Swieton, Jennifer, Noh, Mohd Sharin Mohd, Gibson, Holly, Freeman, Tanya, Badaguma, Upekha, Kreze, Olivia, Kirkpatrick, Suriya, Suntharalingam, Surenthini, Kmonicek, Miroslab, Joffe, Michael, Halperin, Dan, Desborough, Michael, Rampotas, Alexandros, Dhillon, Elissa, Greaves, Paul, Blacker, Edward, Aiken, Laura, Boot, Jesca, Prasannan, Nithya, Kerr, Jonathan, Martin, Abi, Wexler, Sarah, Burney, Claire, Melly, Michelle, Nolan, Regina, Hipkins, Rupert, Kaddam, Israa, Elmoamly, Shereef, Darlow, Jennifer, Plews, Dianne, Shrubsole, Caroline, Loizou, Eleana, Garth, Louise, Peter, Hina, Wolf, Julia, Walia, Shivali, MacDonald, Vickie, Zaidi, Abbas, Dunk, Robert, Miah, Haroon, Miah, Atiqa, Tucker, David, Skinner, Thomas, Cakmak, Seda, Cakmak, Ipek, Hussein, Hayder, Buka, Richard, Wilson, Lydia, Talbot, Georgina, Qureshi, Hafiz, Wharin, Sarah, Dillon, Anna, Bailiff, Benjamin, McIlroy, Graham, Murray, Duncan, Seymour, Frances, Graham, Jane, Harrison, Samuel, Salhan, Beena, Sharpe, David, Thomas, Wayne, McCulloch, Rory, Crosbie, Nicola, Lowe, Gillian, and Hill, Quentin

Published
2019
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23. Clinical presentation and therapeutic management of venous thrombosis in young children: a retrospective analysis

Author

Chan, Anthony, Lensing, Anthonie W. A., Kubitza, Dagmar, Brown, Grahaem, Elorza, Dolores, Ybarra, Marta, Halton, Jacqueline, Grunt, Sebastian, Kenet, Gili, Bonnet, Damien, Santamaria, Amparo, Saracco, Paola, Biss, Tina, Climent, Francesco, Connor, Philip, Palumbo, Joseph, Thelen, Kirstin, Smith, William T., Mason, Amy, Adalbo, Ivet, Berkowitz, Scott D., Hurst, Eva, van Kesteren, Jeroen, Young, Guy, and Monagle, Paul

Published
2018
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24. GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

Author

Dixon, Peter H., Levine, Adam P., Cebola, Inês, Chan, Melanie M. Y., Amin, Aliya S., Aich, Anshul, Mozere, Monika, Maude, Hannah, Mitchell, Alice L., Zhang, Jun, Adlard, Julian, Ahmed, Munaza, Aitman, Tim, Alachkar, Hana, Allsup, David, Almeida-King, Jeff, Ancliff, Philip, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Ashford, Sofie, Astle, William, Attwood, Anthony, Babbs, Chris, Bakchoul, Tamam, Bariana, Tadbir, Barwell, Julian, Bennett, David, Bentley, David, Bierzynska, Agnieszka, Biss, Tina, Bleda, Marta, Bogaard, Harm, Bourne, Christian, Boyce, Sara, Bradley, John, Breen, Gerome, Brennan, Paul, Brewer, Carole, Brown, Matthew, Browning, Michael, Buchan, Rachel, Buckland, Matthew, Bueser, Teofila, Burns, Siobhan, Burren, Oliver, Calleja, Paul, Carr-White, Gerald, Carss, Keren, Casey, Ruth, Caulfield, Mark, Chambers, John, Chambers, Jennifer, Cheng, Floria, Chinnery, Patrick F., Christian, Martin, Church, Colin, Brod, Naomi Clements, Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor, Collins, Janine, Collins, Peter, Colombo, Camilla, Condliffe, Robin, Cook, Stuart, Cook, Terry, Cooper, Nichola, Corris, Paul, Crisp-Hihn, Abigail, Curry, Nicola, Danesino, Cesare, Daniels, Matthew, Daugherty, Louise, Davis, John, Deevi, Sri V. V., Dent, Timothy, Dewhurst, Eleanor, Dixon, Peter, Downes, Kate, Drazyk, Anna, Drewe, Elizabeth, Dutt, Tina, Edgar, David, Edwards, Karen, Egner, William, Erber, Wendy, Erwood, Marie, Estiu, Maria C., Evans, Gillian, Evans, Dafydd Gareth, Everington, Tamara, Eyries, Mélanie, Favier, Remi, Fletcher, Debra, Fox, James, Frary, Amy, French, Courtney, Freson, Kathleen, Frontini, Mattia, Gale, Daniel, Gall, Henning, Geoghegan, Claire, Gerighty, Terry, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, Simon, Gilmour, Kimberley, Girerd, Barbara, Goddard, Sarah, Gomez, Keith, Gordins, Pavels, Gosal, David, Gräf, Stefan, Grassi, Luigi, Greene, Daniel, Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip, Grigoriadou, Sofia, Grocock, Russell, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, William, Haimel, Matthias, Hall, Matthew, Hanson, Helen, Harkness, Kirsty, Harper, Andrew, Harris, Claire, Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Henderson, Alex, Hoffmann, Jonathan, Horvath, Rita, Houweling, Arjan, Howard, Luke, Hu, Fengyuan, Hudson, Gavin, Hughes, Joseph, Huissoon, Aarnoud, Humbert, Marc, Humphray, Sean, Hunter, Sarah, Hurles, Matthew, Izatt, Louise, James, Roger, Johnson, Sally, Jolles, Stephen, Jolley, Jennifer, Jurkute, Neringa, Kasanicki, Mary, Kazkaz, Hanadi, Kazmi, Rashid, Kelleher, Peter, Kiely, David, Kingston, Nathalie, Klima, Robert, Kostadima, Myrto, Kovacs, Gabor, Koziell, Ania, Kreuzhuber, Roman, Kuijpers, Taco, Kumar, Ajith, Kumararatne, Dinakantha, Kuria, Manju, Laffa, Michael, Lalloo, Fiona, Lamber, Michele, Alle, Hana Lango, Lawrie, Allan, Layton, Mark, Lentaigne, Claire, Levine, Adam, Linger, Rachel, Longhurst, Hilary, Louka, Eleni, Ross, Robert MacKenzie, Madan, Bella, Maher, Eamonn, Maimaris, Jesmeen, Mangles, Sarah, Mapeta, Rutendo, Marchbank, Kevin, Marks, Stephen, Markus, Hugh S., Marshall, Andrew, Martin, Jennifer, Mathias, Mary, Matthews, Emma, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark, Meacham, Stuart, Mead, Adam, Megy, Karyn, Mehta, Sarju, Michaelides, Michel, Millar, Carolyn, Moledina, Shahin, Montani, David, Moor, Tony, Morrell, Nicholas, Muir, Keith, Mumford, Andrew, Newnham, Michael, O'Sullivan, Jennifer, Obaji, Samya, Okoli, Steven, Olschewski, Andrea, Olschewski, Horst, Ong, Kai Ren, Ormondroy, Elizabeth, Ouwehan, Willem, Papadi, Sofia, Park, Soo-Mi, Parry, David, Paterson, Joan, Peacock, Andrew, Peden, John, Peerlinck, Kathelijne, Penkett, Christopher, Pepke-Zaba, Joanna, Petersen, Romina, Pyle, Angela, Rankin, Stuart, Rao, Anupama, Raymond, F. Lucy, Rayner-Matthew, Paula, Rees, Christine, Rendon, Augusto, Renton, Tara, Rice, Andrew, Richardson, Sylvia, Richter, Alex, Roberts, Irene, Roughley, Catherine, Roy, Noemi, Sadeghi-Alavijeh, Omid, Saleem, Moin, Samani, Nilesh, Sanchis-Juan, Alba, Sargur, Ravishankar, Satchell, Simon, Savic, Sinisa, Scelsi, Laura, Schulman, Sol, Scully, Marie, Searle, Claire, Seeger, Werner, Sewell, Carrock, Seyres, Denis, Shapiro, Susie, Sharmardina, Olga, Shtoyerman, Rakefet, Sibson, Keith, Side, Lucy, Simeoni, Ilenia, Simpson, Michael, Sivapalaratnam, Suthesh, Skytte, Anne-Bine, Smith, Katherine, Smith, Kenneth G. C., Snape, Katie, Soubrier, Florent, Staines, Simon, Staples, Emily, Stark, Hannah, Stephens, Jonathan, Stirrups, Kathleen, Stock, Sophie, Suntharalingam, Jay, Swietlik, Emilia, Tait, R. Campbell, Talks, Kate, Tan, Rhea, Thaventhiran, James, Themistocleous, Andreas, Thomas, Moira, Thomson, Kate, Thrasher, Adrian, Thys, Chantal, Tischkowitz, Marc, Titterton, Catherine, Toh, Cheng-Hock, Toshner, Mark, Traylor, Matthew, Treacy, Carmen, Trembath, Richard, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Vale, Tom, Van Geet, Chris, Van Zuydam, Natalie, Vazquez-Lopez, Marta, von Ziegenweidt, Julie, Noordegraaf, Anton Vonk, Waisfisz, Quintin, Walker, Suellen, Ware, James, Watkins, Hugh, Watt, Christopher, Webster, Andrew, Wei, Wei, Welch, Steven, Wessels, Julie, Westbury, Sarah, Westwood, John-Paul, Wharton, John, Whitehorn, Deborah, Whitworth, James, Wilkins, Martin R., Wong, Edwin, Wood, Nicholas, Wood, Yvette, Woods, Geoff, Woodward, Emma, Wort, Stephen, Worth, Austen, Yates, Katherine, Yong, Patrick, Young, Tim, Yu, Ping, Yu-Wai-Man, Patrick, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O'Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Chambers, Jenny, Syngelaki, Argyro, Donnelly, Jennifer, Cooley, Sharon, Geary, Michael, Nicolaides, Kypros, Thorsell, Malin, Hague, William M., Estiu, Maria Cecilia, Marschall, Hanns-Ulrich, Gale, Daniel P., Williamson, Catherine, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Human genetics, ACS - Atherosclerosis & ischemic syndromes, Pediatrics, Foundation for the National Institutes of Health (FNIH), The Academy of Medical Sciences, British Heart Foundation, Imperial College Healthcare NHS Trust- BRC Funding, Paediatric Infectious Diseases / Rheumatology / Immunology, and ARD - Amsterdam Reproduction and Development

Subjects
VARIANT, LOCI, INTEGRATIVE ANALYSIS, General Physics and Astronomy, Cholestasis, Intrahepatic, TRIGLYCERIDE LEVELS, DISEASE, General Biochemistry, Genetics and Molecular Biology, Bile Acids and Salts, Pregnancy, Humans, MUTATION, Science & Technology, Multidisciplinary, Genomics England Research Consortium Collaborators, Infant, Newborn, NIHR BioResource, General Chemistry, GLUCOCORTICOID-RECEPTOR, Multidisciplinary Sciences, ALKALINE SPHINGOMYELINASE, Pregnancy Complications, INSIGHTS, Science & Technology - Other Topics, Premature Birth, Female, FASTING GLUCOSE, Genome-Wide Association Study
Abstract

Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disorder affecting 0.5-2% of pregnancies. The majority of cases present in the third trimester with pruritus, elevated serum bile acids and abnormal serum liver tests. ICP is associated with an increased risk of adverse outcomes, including spontaneous preterm birth and stillbirth. Whilst rare mutations affecting hepatobiliary transporters contribute to the aetiology of ICP, the role of common genetic variation in ICP has not been systematically characterised to date. Here, we perform genome-wide association studies (GWAS) and meta-analyses for ICP across three studies including 1138 cases and 153,642 controls. Eleven loci achieve genome-wide significance and have been further investigated and fine-mapped using functional genomics approaches. Our results pinpoint common sequence variation in liver-enriched genes and liver-specific cis-regulatory elements as contributing mechanisms to ICP susceptibility. ispartof: NATURE COMMUNICATIONS vol:13 issue:1 ispartof: location:England status: published

Published
2022
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25. Allogenic haematopoeitic stem cell transplant as cure for severe transfusion‐dependent non‐dominant hereditary spherocytosis due to homozygous SPTA1 mutation

Author

Ramanathan, Subramaniam, primary, Roberts, Wing, additional, Carey, Peter, additional, Marshall, Scott, additional, Shenton, Geoff, additional, Munoz‐Diaz, Miriam, additional, Biss, Tina, additional, Skinner, Roderick, additional, Fuente, Josu De La, additional, Slatter, Mary, additional, and Lum, Su Han, additional

Published
2022
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31. Rare missense variants in Tropomyosin‐4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects, and excessive bleeding

Author

Stapley, Rachel J., Poulter, Natalie S., Khan, Abdullah O., Smith, Christopher W., Bignell, Patricia, Fratter, Carl, Lester, Will, Lowe, Gillian, Morgan, Neil V., Morgan, Neil, Watson, Steve, Harrison, Paul, Lordkipanidze, Marie, Mumford, Andrew D., Mundell, Stuart J., Gissen, Paul, Daly, Martina E., Clark, Justin, Williams, Mike, Motwani, Jayashree, Marshall, Dianne, Lawson, Natalie, Nyatanga, Priscilla, Mann, Pat, Kirwan, Julie, Percy, Charles, Green, Pam, Hupston, Helen, Nagapachetty, Koomaravel, Dwenger, Elizabeth, Rourke, Ann O, Pope, Martin, Edmead, Camillia, Greenway, April, Makris, Michael, Payne, Jeanette, Pavord, Sue, Gooding, Richard, Dattani, Rashesh, Grimley, Gerry Dolan, Charlotte, Stokley, Simone, Astwood, Emma, Longmuir, Karyn, Chang, Cherry, Foros, Merri, Kightley, Michelle, Trower, Linda, Thachil, Jecko, Bolton Maggs, Paula, Hay, Charlie, Pike, Gill, Will, Andrew, Grainger, John, Foulkes, Matt, Fareh, Mona, Talks, Kate, Biss, Tina, Kesteven, Patrick, Hanley, John, Vowles, Julie, Basey, Lesley, Knaggs, Kevin, Barnes, Michelle, Collins, Peter, Rayment, Rachel, Alikhan, Raza, Rebecca Morris, Ana Guerrero, Mansell, Dianne, Toh, Cheng Hock, Martlew, Vanessa, Murphy, Elaine, Lachmann, Robin, Rose, Peter, Chapman, Oliver, Lokare, Anand, Marshall, Kathryn, Khan, Naseem, Keeling, David, Curry, Nikki, Giangrande, Paul, Austin, Steve, Bevan, David, Alamelu, Jayanthi, Allsup, David, Fletcher, Andrew, Gladstone, Katherine, Fenwick, Jeanette, Woods, Philippa, Camp, Darren, James, Beki, Preston, Suzie, Spencer, Collette, Pike, Alexandra, Lai‐Wah, Chung, Thomas, Angela, Myers, Bethan, Evans, Gillian, Elliot, Kim, Davies, Karen, Graham, Charlotte, Foad, Miranda, and Smith, Jacqueline

Published
2022
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34. Whole-genome sequencing of patients with rare diseases in a national health system

Author

Turro, Ernest, Astle, William J., Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver S., Downes, Kate, Haimel, Matthias, Tuna, Salih, Deevi, Sri V.V., Aitman, Timothy J., Bennett, David L., Calleja, Paul, Carss, Keren, Caulfield, Mark J., Chinnery, Patrick F., Dixon, Peter H., Gale, Daniel P., James, Roger, Koziell, Ania, Laffan, Michael A., Levine, Adam P., Maher, Eamonn R., Markus, Hugh S., Morales, Joannella, Morrell, Nicholas W., Mumford, Andrew D., Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi B.A., Saleem, Moin A., Smith, Kenneth G.C., Stark, Hannah, Tan, Rhea Y.Y., Themistocleous, Andreas C., Thrasher, Adrian J., Watkins, Hugh, Webster, Andrew R., Wilkins, Martin R., Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David R., Abbs, Stephen, Abulhoul, Lara, Adlard, Julian, Ahmed, Munaza, Alachkar, Hana, Allsup, David J., Almeida-King, Jeff, Ancliff, Philip, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Ashford, Sofie, Attwood, Anthony, Aurora, Paul, Babbs, Christian, Bacchelli, Chiara, Bakchoul, Tamam, Banka, Siddharth, Bariana, Tadbir, Barwell, Julian, Batista, Joana, Baxendale, Helen E., Beales, Phil L., Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria A.K., Black, Graeme C., Bleda, Marta, Blesneac, Iulia, Bockenhauer, Detlef, Bogaard, Harm, Bourne, Christian J., Boyce, Sara, Bradley, John R., Bragin, Eugene, Breen, Gerome, Brennan, Paul, Brewer, Carole, Brown, Matthew, Browning, Andrew C., Browning, Michael J., Buchan, Rachel J., Buckland, Matthew S., Bueser, Teofila, Diz, Carmen Bugarin, Burn, John, Burns, Siobhan O., Burrows, Nigel, Campbell, Carolyn, Carr-White, Gerald, Casey, Ruth, Chambers, Jenny, Chambers, John, Chan, Melanie M.Y., Cheah, Calvin, Cheng, Floria, Chitre, Manali, Christian, Martin T., Church, Colin, Clayton-Smith, Jill, Cleary, Maureen, Brod, Naomi Clements, Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor R.P., Collins, Janine, Collins, Peter W., Colombo, Camilla, Compton, Cecilia J., Condliffe, Robin, Cook, Stuart, Cook, H. Terence, Cooper, Nichola, Corris, Paul A A., Furnell, Abigail, Cunningham, Fiona, Curry, Nicola S., Cutler, Antony J., Daniels, Matthew J., Dattani, Mehul, Daugherty, Louise C., Davis, John, De Soyza, Anthony, Dent, Timothy, Deshpande, Charu, Dewhurst, Eleanor F., Douzgou, Sofia, Drazyk, Anna M., Drewe, Elizabeth, Duarte, Daniel, Dutt, Tina, Edgar, J. David M., Edwards, Karen, Egner, William, Ekani, Melanie N., Elliott, Perry, Erber, Wendy N., Erwood, Marie, Estiu, Maria C., Evans, Dafydd Gareth, Evans, Gillian, Everington, Tamara, Eyries, Mélanie, Fassihi, Hiva, Favier, Remi, Findhammer, Jack, Fletcher, Debra, Flinter, Frances A., Floto, R. Andres, Fowler, Tom, Fox, James, Frary, Amy J., French, Courtney E., Freson, Kathleen, Gall, Henning, Ganesan, Vijeya, Gattens, Michael, Geoghegan, Claire, Gerighty, Terence S.A., Gharavi, Ali G., Ghio, Stefano, Ghofrani, Hossein Ardeschir, Gibbs, J. Simon R., Gibson, Kate, Gilmour, Kimberly C., Girerd, Barbara, Gleadall, Nicholas S., Goddard, Sarah, Goldstein, David B., Gomez, Keith, Gordins, Pavels, Gosal, David, Graham, Jodie, Grassi, Luigi, Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip, Grigoriadou, Sofia, Grocock, Russell J., Grozeva, Detelina, Gurnell, Mark, Hackett, Scott, Hadinnapola, Charaka, Hague, William M., Hague, Rosie, Hall, Matthew, Hanson, Helen L., Haque, Eshika, Harkness, Kirsty, Harper, Andrew R., Harris, Claire L L., Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Henderson, Alex, Herwadkar, Archana, Hoffman, Jonathan, Holden, Simon, Horvath, Rita, Houlden, Henry, Houweling, Arjan C C., Howard, Luke S., Hu, Fengyuan, Hudson, Gavin, Hughes, Joseph, Huissoon, Aarnoud P., Humbert, Marc, Hunter, Sarah, Hurles, Matthew, Irving, Melita, Izatt, Louise, Johnson, Sally A., Jolles, Stephen, Jolley, Jennifer, Josifova, Dragana, Jurkute, Neringa, Karten, Tim, Karten, Johannes, Kasanicki, Mary A., Kazkaz, Hanadi, Kazmi, Rashid, Kelleher, Peter, Kelly, Anne M., Kelsall, Wilf, Kempster, Carly, Kiely, David G., Kingston, Nathalie, Klima, Robert, Koelling, Nils, Kostadima, Myrto, Kovacs, Gabor, Kreuzhuber, Roman, Kuijpers, Taco W., Kumar, Ajith, Kumararatne, Dinakantha, Kurian, Manju A., Lalloo, Fiona, Lambert, Michele, Lawrie, Allan, Layton, D. Mark, Lench, Nick, Lentaigne, Claire, Lester, Tracy, Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena E., Louka, Eleni, Lyons, Paul A., Machado, Rajiv D., MacKenzie Ross, Robert V., Madan, Bella, Maimaris, Jesmeen, Malka, Samantha, Mangles, Sarah, Marchbank, Kevin J., Marks, Stephen, Marschall, Hanns Ulrich, Marshall, Andrew, Martin, Jennifer, Mathias, Mary, Matthews, Emma, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark I., McKinney, Harriet, McMahon, Aoife, Meacham, Stuart, Mead, Adam J., Castello, Ignacio Medina, Mehta, Sarju G G., Michaelides, Michel, Millar, Carolyn, Mohammed, Shehla N., Moledina, Shahin, Montani, David, Moore, Anthony T., Mozere, Monika, Muir, Keith W., Nemeth, Andrea H., Newman, William G., Newnham, Michael, Noorani, Sadia, Nurden, Paquita, O’Sullivan, Jennifer, Obaji, Samya, Odhams, Chris, Okoli, Steven, Olschewski, Andrea, Olschewski, Horst, Ong, Kai Ren, Oram, S. Helen, Ouwehand, Willem H., Palles, Claire, Papadia, Sofia, Park, Soo Mi, Parry, David, Patel, Smita, Paterson, Joan, Peacock, Andrew, Pearce, Simon H H., Peden, John, Peerlinck, Kathelijne, Penkett, Christopher J., Pepke-Zaba, Joanna, Petersen, Romina, Pilkington, Clarissa, Poole, Kenneth E.S., Prathalingam, Radhika, Psaila, Bethan, Pyle, Angela, Quinton, Richard, Rahman, Shamima, Rao, Anupama, Raymond, F. Lucy, Rayner-Matthews, Paula J., Rees, Christine, Renton, Tara, Rhodes, Christopher J., Rice, Andrew S.C., Richter, Alex, Robert, Leema, Rogers, Anthony, Rose, Sarah J., Ross-Russell, Robert, Roughley, Catherine, Roy, Noemi B. A, Ruddy, Deborah M., Sadeghi-Alavijeh, Omid, Samani, Nilesh, Samarghitean, Crina, Sargur, Ravishankar B., Sarkany, Robert N., Satchell, Simon, Savic, Sinisa, Sayer, John A., Sayer, Genevieve, Scelsi, Laura, Schaefer, Andrew M., Schulman, Sol, Scott, Richard, Scully, Marie, Searle, Claire, Seeger, Werner, Sen, Arjune, Sewell, W. A.Carrock, Seyres, Denis, Shah, Neil, Shapiro, Susan E., Shaw, Adam C., Short, Patrick J., Sibson, Keith, Side, Lucy, Simeoni, Ilenia, Simpson, Michael A A., Sims, Matthew C., Sivapalaratnam, Suthesh, Smedley, Damian, Smith, Katherine R., Snape, Katie, Soranzo, Nicole, Soubrier, Florent, Southgate, Laura, Spasic-Boskovic, Olivera, Staines, Simon, Staples, Emily, Steward, Charles, Stirrups, Kathleen E., Stuckey, Alex, Suntharalingam, Jay, Swietlik, Emilia M., Syrris, Petros, Tait, R. Campbell, Talks, Kate, Tate, Katie, Taylor, John M., Taylor, Jenny C., Thaventhiran, James E., Thomas, Ellen, Thomas, David, Thomas, Moira J., Thomas, Patrick, Thomson, Kate, Threadgold, Glen, Tilly, Tobias, Tischkowitz, Marc, Titterton, Catherine, Todd, John A., Toh, Cheng Hock, Tolhuis, Bas, Tomlinson, Ian P., Toshner, Mark, Traylor, Matthew, Treacy, Carmen, Treadaway, Paul, Trembath, Richard, Turek, Wojciech, Twiss, Philip, Vale, Tom, Geet, Chris Van, Zuydam, Natalie van, Vandekuilen, Maarten, Vandersteen, Anthony M., Vazquez-Lopez, Marta, von Ziegenweidt, Julie, Vonk Noordegraaf, Anton, Wagner, Annette, Waisfisz, Quinten, Walker, Suellen M., Walker, Neil, Walter, Klaudia, Ware, James S., Watt, Christopher, Wedderburn, Lucy, Wei, Wei, Welch, Steven B., Wessels, Julie, Westbury, Sarah K., Westwood, John Paul, Wharton, John, Whitehorn, Deborah, Wilkie, Andrew O. M, Wilson, Brian T., Wong, Edwin K.S., Wood, Nicholas, Wood, Yvette, Woods, Christopher Geoffrey, Woodward, Emma R R., Wort, Stephen J., Worth, Austen, Wright, Michael, Yates, Katherine, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Yu-Wai-Man, Patrick, Zlamalova, Eliska, University of Cambridge [UK] (CAM), John Wyeth & Brother Limited, Medical Research Council (MRC), Wellcome Trust, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Human genetics, ACS - Atherosclerosis & ischemic syndromes, Landsteiner Laboratory, Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development, and Project, NIHR BioResource for the 100,000 Genomes

Subjects
0301 basic medicine, Erythrocytes, Internationality, Databases, Factual, National Health Programs, [SDV]Life Sciences [q-bio], Disease, VARIANTS, Genome, State Medicine, NIHR BioResource for the 100,000 Genomes Project, 0302 clinical medicine, Medicine, GATA1 Transcription Factor, Genetics, Multidisciplinary, Translational bioinformatics, ASSOCIATION, 3. Good health, Multidisciplinary Sciences, Phenotype, 030220 oncology & carcinogenesis, disease genetics, Medical genetics, Science & Technology - Other Topics, Receptors, Thrombopoietin, medicine.medical_specialty, General Science & Technology, Quantitative Trait Loci, Genomics, Computational biology, Biology, DIAGNOSIS, computational biology and bioinformatics, Actin-Related Protein 2-3 Complex, Article, LRBA, LINKS, 03 medical and health sciences, Rare Diseases, Humans, Alleles, Adaptor Proteins, Signal Transducing, Whole genome sequencing, National health, Science & Technology, Whole Genome Sequencing, MUTATIONS, business.industry, THROMBOCYTOPENIA, United Kingdom, MACROTHROMBOCYTOPENIA, genetics research, 030104 developmental biology, business, Rare disease
Abstract

Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 extensively phenotyped participants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data of UK Biobank participants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare.

Published
2021
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37. 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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39. 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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40. Systematic Analysis of the Design, Methodology and Patient Population Characteristics of the Pediatric Direct Oral Anticoagulant (DOAC) Trials of Venous Thromboembolism Treatment

Author

Betensky, Marisol, Albisetti, Manuela, Biss, Tina, Bhat, Rukhmi V., Brandão, Leonardo R., Diacovo, Thomas, Monagle, Paul, Raffini, Leslie, Revel-vilk, Shoshana, van Ommen, C. Heleen, Whitworth, Hilary, Goldenberg, Neil A., and Male, Christoph

Abstract

The pediatric direct oral anticoagulation (DOAC) trials provide an opportunity to evaluate and characterize challenges in their design and execution to inform future antithrombotic trials.

Published
2025
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41. Consensus‐based clinical recommendations and research priorities for anticoagulant thromboprophylaxis in children hospitalized for COVID‐19–related illness

Author

Goldenberg, Neil A, Sochet, Anthony, Albisetti, Manuela, Biss, Tina, Bonduel, Mariana, Jaffray, Julie, MacLaren, Graeme, Monagle, Paul, O’Brien, Sarah, Raffini, Leslie, Revel‐Vilk, Shoshana, Sirachainan, Nongnuch, Williams, Suzan, Zia, Ayesha, Male, Christoph, University of Zurich, and Goldenberg, Neil A

Subjects
10036 Medical Clinic, 2720 Hematology, 610 Medicine & health, Hematology
Published
2020
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42. 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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43. 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, 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, Wellcome Trust, Thaventhiran, James [0000-0001-8616-074X], Lango Allen, Hana [0000-0002-7803-8688], Burren, Oliver [0000-0002-3388-5760], Rae, William [0000-0003-0095-2514], Zhang, Zinan [0000-0003-3831-2272], Megy, Karyn [0000-0002-2826-3879], Johnson, Kathleen [0000-0002-6823-3252], Smith, Kenneth [0000-0003-3829-4326], Apollo - University of Cambridge Repository, University of St Andrews. School of Medicine, University of St Andrews. Statistics, University of St Andrews. Sir James Mackenzie Institute for Early Diagnosis, University of St Andrews. Cellular Medicine Division, Ege Üniversitesi, Experimental Immunology, Graduate School, AII - Inflammatory diseases, Infectious diseases, APH - Aging & Later Life, APH - Global Health, Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Human genetics, APH - Quality of Care, ACS - Atherosclerosis & ischemic syndromes, Biochemie, RS: Carim - B03 Cell biochemistry of thrombosis and haemostasis, Faculteit FHML Centraal, MUMC+: DA CDL Algemeen (9), RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: MA Hematologie (9), Interne Geneeskunde, and Promovendi CD

Subjects
0301 basic medicine, Male, Protein Tyrosine Phosphatase, Non-Receptor Type 2/genetics, Genome-wide association study, VARIANTS, Regulatory Sequences, Nucleic Acid, medicine.disease_cause, Genome, Cohort Studies, 0302 clinical medicine, RARE, QR180 Immunology, Primary Immunodeficiency Consortium for the NIHR Bioresource, Genetics, Protein Tyrosine Phosphatase, Non-Receptor Type 2, Multidisciplinary, Suppressor of Cytokine Signaling 1 Protein/genetics, GENETIC-VARIATION, RNA-Binding Proteins, Primary Immunodeficiency Diseases/diagnosis, ASSOCIATION, Penetrance, Multidisciplinary Sciences, DEFICIENCY, QR180, Science & Technology - Other Topics, Female, General Science & Technology, Primary Immunodeficiency Diseases, Transcription Factors/genetics, Genomics, COMMON VARIABLE IMMUNODEFICIENCY, QH426 Genetics, Biology, Article, Actin-Related Protein 2-3 Complex, 03 medical and health sciences, Suppressor of Cytokine Signaling 1 Protein, SDG 3 - Good Health and Well-being, SUPPRESSOR, Actin-Related Protein 2-3 Complex/genetics, medicine, Humans, QH426, Whole genome sequencing, Science & Technology, Whole Genome Sequencing, Common variable immunodeficiency, DAS, Bayes Theorem, Immune dysregulation, Regulatory Sequences, Nucleic Acid/genetics, medicine.disease, RNA-Binding Proteins/genetics, STAT1 MUTATIONS, 030104 developmental biology, Primary immunodeficiency, IUIS PHENOTYPIC CLASSIFICATION, GAIN, 030215 immunology, Genome-Wide Association Study, Transcription Factors
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 malignancies1–3. 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. © 2020, The Author(s), under exclusive licence to Springer Nature Limited., Wellcome Trust, WT: 104807/Z/14/Z University College London, UCL: 100140/Z/12/Z, 107212/Z/15/Z, MR/L019027, 203141/Z/16/Z, 091157/Z/10/Z Bundesministerium für Bildung und Forschung, BMBF: 01ZX1306A University of Cambridge 201250/Z/16/Z 01ZX1709 Seventh Framework Programme, FP7 NIHR Bristol Biomedical Research Centre Deutsche Forschungsgemeinschaft, DFG Deutsche Forschungsgemeinschaft, DFG: EXC 2167-390884018 Juvenile Diabetes Research Foundation United Kingdom, JDRF: 9-2011-253, 5-SRA-2015-130-A-N National Institute for Health Research, NIHR: RG65966 Medical Research Council, MRC: RG95376, MR/L006197/1 Great Ormond Street Hospital for Children, GOSH, Acknowledgements The NBR-RD PID Consortium is part of the NIHR BioResource, for which funding was provided by the NIHR (NIHR, grant number RG65966). We acknowledge the participation of all NIHR BioResource volunteers, and thank the NIHR BioResource centre and staff for their contribution. J.E.D.T. is supported by the Medical Research Council (MRC) (RG95376 and MR/L006197/1); A.J.T. is supported by the Wellcome Trust (104807/Z/14/Z) and the NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London; K.G.C.S. is supported by the MRC (programme grant MR/L019027) and is a Wellcome Investigator; A.J.C. was supported by the Wellcome Trust (091157/Z/10/Z, 107212/Z/15/Z, 100140/Z/12/Z, 203141/Z/16/Z), JDRF (9-2011-253, 5-SRA-2015-130-A-N), NIHR Oxford Biomedical Research Centre and NIHR Cambridge Biomedical Research Centre; E.E. has received funding from the European Union Seventh Framework Programme (FP7-PEOPLE-2013-COFUND) under grant agreement number 609020-Scientia Fellows; E.R. is supported by the Wellcome Trust (201250/Z/16/Z); D.E. is supported by the German Federal Ministry of Education and Research (BMBF) within the framework of the e:Med research and funding concept (SysInflame grant 01ZX1306A; GB-XMAP grant 01ZX1709) and funded by the Deutsche Forschungsgemeinschaft (DFG; German Research Foundation) under Germany’s Excellence Strategy (EXC 2167-390884018). The NIHR Cambridge Biomedical Research Centre (BRC) is a partnership between Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge, funded by the NIHR. This research was co-funded by the support listed above and the NIHR Cambridge BRC.

Published
2020
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44. PROTECT VIII kids extension study: Long-term safety and efficacy of BAY 94-9027 (damoctocog alfa pegol) in children with severe haemophilia A

Author

Poli Van Creveldkliniek Medisch, Child Health, Circulatory Health, Mancuso, Maria Elisa, Biss, Tina, Fischer, Kathelijn, Maas Enriquez, Monika, Steele, MacGregor, Wang, Maria, Tseneklidou-Stoeter, Despina, Ahuja, Sanjay, Kenet, Gili, Poli Van Creveldkliniek Medisch, Child Health, Circulatory Health, Mancuso, Maria Elisa, Biss, Tina, Fischer, Kathelijn, Maas Enriquez, Monika, Steele, MacGregor, Wang, Maria, Tseneklidou-Stoeter, Despina, Ahuja, Sanjay, and Kenet, Gili

Published
2021

46. Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension

Author

Swietlik, Emilia M., primary, Greene, Daniel, additional, Zhu, Na, additional, Megy, Karyn, additional, Cogliano, Marcella, additional, Rajaram, Smitha, additional, Pandya, Divya, additional, Tilly, Tobias, additional, Lutz, Katie A., additional, Welch, Carrie C.L., additional, Pauciulo, Michael W., additional, Southgate, Laura, additional, Martin, Jennifer M., additional, Treacy, Carmen M., additional, Penkett, Christopher J., additional, Stephens, Jonathan C., additional, Bogaard, Harm J., additional, Church, Colin, additional, Coghlan, Gerry, additional, Coleman, Anna W., additional, Condliffe, Robin, additional, Eichstaedt, Christina A., additional, Eyries, Mélanie, additional, Gall, Henning, additional, Ghio, Stefano, additional, Girerd, Barbara, additional, Grünig, Ekkehard, additional, Holden, Simon, additional, Howard, Luke, additional, Humbert, Marc, additional, Kiely, David G., additional, Kovacs, Gabor, additional, Lordan, Jim, additional, Machado, Rajiv D., additional, MacKenzie Ross, Robert V., additional, McCabe, Colm, additional, Moledina, Shahin, additional, Montani, David, additional, Olschewski, Horst, additional, Pepke-Zaba, Joanna, additional, Price, Laura, additional, Rhodes, Christopher J., additional, Seeger, Werner, additional, Soubrier, Florent, additional, Suntharalingam, Jay, additional, Toshner, Mark R., additional, Vonk Noordegraaf, Anton, additional, Wharton, John, additional, Wild, James M., additional, Wort, Stephen John, additional, Lawrie, Allan, additional, Wilkins, Martin R., additional, Trembath, Richard C., additional, Shen, Yufeng, additional, Chung, Wendy K., additional, Swift, Andrew J., additional, Nichols, William C., additional, Morrell, Nicholas W., additional, Gräf, Stefan, additional, Abbs, Stephen, additional, Abulhoul, Lara, additional, Adlard, Julian, additional, Ahmed, Munaza, additional, Aitman, Timothy J., additional, Alachkar, Hana, additional, Allsup, David J., additional, Ancliff, Philip, additional, Antrobus, Richard, additional, Armstrong, Ruth, additional, Arno, Gavin, additional, Ashford, Sofie, additional, Astle, William J., additional, Attwood, Anthony, additional, Aurora, Paul, additional, Babbs, Christian, additional, Bacchelli, Chiara, additional, Bakchoul, Tamam, additional, Banka, Siddharth, additional, Bariana, Tadbir, additional, Barwell, Julian, additional, Batista, Joana, additional, Baxendale, Helen E., additional, Beales, Phil L., additional, Bennett, David L., additional, Bierzynska, Agnieszka, additional, Biss, Tina, additional, Bitner-Glindzicz, Maria A.K., additional, Black, Graeme C., additional, Bleda, Marta, additional, Blesneac, Iulia, additional, Bockenhauer, Detlef, additional, Boyce, Sara, additional, Bradley, John R., additional, Breen, Gerome, additional, Brennan, Paul, additional, Brewer, Carole, additional, Brown, Matthew, additional, Browning, Andrew C., additional, Browning, Michael J., additional, Buchan, Rachel J., additional, Buckland, Matthew S., additional, Bueser, Teofila, additional, Diz, Carmen Bugarin, additional, Burn, John, additional, Burns, Siobhan O., additional, Burren, Oliver S., additional, Burrows, Nigel, additional, Campbell, Carolyn, additional, Carr-White, Gerald, additional, Carss, Keren, additional, Casey, Ruth, additional, Caulfield, Mark J., additional, Chambers, Jenny, additional, Chambers, John, additional, Chan, Melanie M.Y., additional, Cheng, Floria, additional, Chinnery, Patrick F., additional, Chitre, Manali, additional, Christian, Martin T., additional, Clayton-Smith, Jill, additional, Cleary, Maureen, additional, Brod, Naomi Clements, additional, Colby, Elizabeth, additional, Cole, Trevor R.P., additional, Collins, Janine, additional, Collins, Peter W., additional, Compton, Cecilia J., additional, Cook, H. Terence, additional, Cook, Stuart, additional, Cooper, Nichola, additional, Corris, Paul A., additional, Curry, Nicola S., additional, Daniels, Matthew J., additional, Dattani, Mehul, additional, Daugherty, Louise C., additional, Davis, John, additional, De Soyza, Anthony, additional, Deevi, Sri V.V., additional, Dent, Timothy, additional, Deshpande, Charu, additional, Dewhurst, Eleanor F., additional, Dixon, Peter H., additional, Douzgou, Sofia, additional, Downes, Kate, additional, Drazyk, Anna M., additional, Drewe, Elizabeth, additional, Duarte, Daniel, additional, Dutt, Tina, additional, Edgar, J. David M., additional, Edwards, Karen, additional, Egner, William, additional, Ekani, Melanie N., additional, Elliott, Perry, additional, Erber, Wendy N., additional, Erwood, Marie, additional, Estiu, Maria C., additional, Evans, Dafydd Gareth, additional, Evans, Gillian, additional, Everington, Tamara, additional, Fassihi, Hiva, additional, Favier, Remi, additional, Fletcher, Debra, additional, Flinter, Frances A., additional, Floto, R. Andres, additional, Fowler, Tom, additional, Fox, James, additional, Frary, Amy J., additional, French, Courtney E., additional, Freson, Kathleen, additional, Frontini, Mattia, additional, Furnell, Abigail, additional, Gale, Daniel P., additional, Ganesan, Vijeya, additional, Gattens, Michael, additional, Ghofrani, Hossein-Ardeschir, additional, Gibbs, J. Simon R., additional, Gibson, Kate, additional, Gilmour, Kimberly C., additional, Gleadall, Nicholas S., additional, Goddard, Sarah, additional, Gomez, Keith, additional, Gordins, Pavels, additional, Gosal, David, additional, Graham, Jodie, additional, Grassi, Luigi, additional, Greenhalgh, Lynn, additional, Greinacher, Andreas, additional, Gresele, Paolo, additional, Griffiths, Philip, additional, Grigoriadou, Sofia, additional, Grozeva, Detelina, additional, Gurnell, Mark, additional, Hackett, Scott, additional, Hadinnapola, Charaka, additional, Hague, Rosie, additional, Hague, William M., additional, Haimel, Matthias, additional, Hall, Matthew, additional, Hanson, Helen L., additional, Haque, Eshika, additional, Harkness, Kirsty, additional, Harper, Andrew R., additional, Harris, Claire L., additional, Hart, Daniel, additional, Hassan, Ahamad, additional, Hayman, Grant, additional, Henderson, Alex, additional, Herwadkar, Archana, additional, Hoffman, Jonathan, additional, Horvath, Rita, additional, Houlden, Henry, additional, Houweling, Arjan C., additional, Hu, Fengyuan, additional, Hudson, Gavin, additional, Huissoon, Aarnoud P., additional, Hurles, Matthew, additional, Irving, Melita, additional, Izatt, Louise, additional, James, Roger, additional, Johnson, Sally A., additional, Jolles, Stephen, additional, Jolley, Jennifer, additional, Josifova, Dragana, additional, Jurkute, Neringa, additional, Kasanicki, Mary A., additional, Kazkaz, Hanadi, additional, Kazmi, Rashid, additional, Kelleher, Peter, additional, Kelly, Anne M, additional, Kelsall, Wilf, additional, Kempster, Carly, additional, Kingston, Nathalie, additional, Koelling, Nils, additional, Kostadima, Myrto, additional, Koziell, Ania, additional, Kreuzhuber, Roman, additional, Kuijpers, Taco W., additional, Kumar, Ajith, additional, Kumararatne, Dinakantha, additional, Kurian, Manju A., additional, Laffan, Michael A., additional, Lalloo, Fiona, additional, Lambert, Michele, additional, Allen, Hana Lango, additional, Layton, D. Mark, additional, Lentaigne, Claire, additional, Lester, Tracy, additional, Levine, Adam P., additional, Linger, Rachel, additional, Longhurst, Hilary, additional, Lorenzo, Lorena E., additional, Louka, Eleni, additional, Lyons, Paul A., additional, Madan, Bella, additional, Maher, Eamonn R., additional, Maimaris, Jesmeen, additional, Malka, Samantha, additional, Mangles, Sarah, additional, Mapeta, Rutendo, additional, Marchbank, Kevin J., additional, Marks, Stephen, additional, Markus, Hugh S., additional, Marschall, Hanns-Ulrich, additional, Marshall, Andrew, additional, Mathias, Mary, additional, Matthews, Emma, additional, Maxwell, Heather, additional, McAlinden, Paul, additional, McCarthy, Mark I., additional, McKinney, Harriet, additional, Meacham, Stuart, additional, Mead, Adam J., additional, Mehta, Sarju G., additional, Michaelides, Michel, additional, Millar, Carolyn, additional, Mohammed, Shehla N., additional, Moore, Anthony T., additional, Mozere, Monika, additional, Muir, Keith W., additional, Mumford, Andrew D., additional, Nemeth, Andrea H., additional, Newman, William G., additional, Newnham, Michael, additional, Noorani, Sadia, additional, Nurden, Paquita, additional, O’Sullivan, Jennifer, additional, Obaji, Samya, additional, Odhams, Chris, additional, Okoli, Steven, additional, Olschewski, Andrea, additional, Ong, Kai Ren, additional, Oram, S. Helen, additional, Ormondroyd, Elizabeth, additional, Ouwehand, Willem H., additional, Palles, Claire, additional, Papadia, Sofia, additional, Park, Soo-Mi, additional, Parry, David, additional, Patel, Smita, additional, Paterson, Joan, additional, Peacock, Andrew, additional, Pearce, Simon H., additional, Peerlinck, Kathelijne, additional, Petersen, Romina, additional, Pilkington, Clarissa, additional, Poole, Kenneth E.S., additional, Psaila, Bethan, additional, Pyle, Angela, additional, Quinton, Richard, additional, Rahman, Shamima, additional, Rao, Anupama, additional, Raymond, F. Lucy, additional, Rayner-Matthews, Paula J., additional, Rendon, Augusto, additional, Renton, Tara, additional, Rice, Andrew S.C., additional, Richter, Alex, additional, Robert, Leema, additional, Roberts, Irene, additional, Rose, Sarah J., additional, Ross-Russell, Robert, additional, Roughley, Catherine, additional, Roy, Noemi B.A., additional, Ruddy, Deborah M., additional, Sadeghi-Alavijeh, Omid, additional, Saleem, Moin A., additional, Samani, Nilesh, additional, Samarghitean, Crina, additional, Sanchis-Juan, Alba, additional, Sargur, Ravishankar B., additional, Sarkany, Robert N., additional, Satchell, Simon, additional, Savic, Sinisa, additional, Sayer, Genevieve, additional, Sayer, John A., additional, Scelsi, Laura, additional, Schaefer, Andrew M., additional, Schulman, Sol, additional, Scott, Richard, additional, Scully, Marie, additional, Searle, Claire, additional, Sen, Arjune, additional, Sewell, W.A. Carrock, additional, Seyres, Denis, additional, Shah, Neil, additional, Shamardina, Olga, additional, Shapiro, Susan E., additional, Shaw, Adam C., additional, Sibson, Keith, additional, Side, Lucy, additional, Simeoni, Ilenia, additional, Simpson, Michael A., additional, Sims, Matthew C., additional, Sivapalaratnam, Suthesh, additional, Smedley, Damian, additional, Smith, Katherine R., additional, Smith, Kenneth G.C., additional, Snape, Katie, additional, Soranzo, Nicole, additional, Spasic-Boskovic, Olivera, additional, Staines, Simon, additional, Staples, Emily, additional, Stark, Hannah, additional, Stirrups, Kathleen E., additional, Stuckey, Alex, additional, Syrris, Petros, additional, Tait, R. Campbell, additional, Talks, Kate, additional, Tan, Rhea Y.Y., additional, Taylor, Jenny C., additional, Taylor, John M., additional, Thaventhiran, James E., additional, Themistocleous, Andreas C., additional, Thomas, David, additional, Thomas, Ellen, additional, Thomas, Moira J., additional, Thomas, Patrick, additional, Thomson, Kate, additional, Thrasher, Adrian J., additional, Thys, Chantal, additional, Tischkowitz, Marc, additional, Titterton, Catherine, additional, Toh, Cheng-Hock, additional, Tomlinson, Ian P., additional, Traylor, Matthew, additional, Treadaway, Paul, additional, Tuna, Salih, additional, Turro, Ernest, additional, Twiss, Philip, additional, Vale, Tom, additional, Van Geet, Chris, additional, van Zuydam, Natalie, additional, Vandersteen, Anthony M, additional, Vazquez-Lopez, Marta, additional, von Ziegenweidt, Julie, additional, Wagner, Annette, additional, Waisfisz, Quinten, additional, Walker, Neil, additional, Walker, Suellen M., additional, Ware, James S., additional, Watkins, Hugh, additional, Watt, Christopher, additional, Webster, Andrew R., additional, Wedderburn, Lucy, additional, Wei, Wei, additional, Welch, Steven B., additional, Wessels, Julie, additional, Westbury, Sarah K., additional, Westwood, John-Paul, additional, Whitehorn, Deborah, additional, Whitworth, James, additional, Wilkie, Andrew O.M., additional, Williamson, Catherine, additional, Wilson, Brian T., additional, Wong, Edwin K.S., additional, Wood, Nicholas, additional, Wood, Yvette, additional, Woods, Christopher Geoffrey, additional, Woodward, Emma R., additional, Worth, Austen, additional, Wright, Michael, additional, Yates, Katherine, additional, Yong, Patrick F.K., additional, Young, Timothy, additional, Yu, Ping, additional, Yu-Wai-Man, Patrick, additional, Zlamalova, Eliska, additional, Hirsch, Russel, additional, White, R. James, additional, Simon, Marc, additional, Badesch, David, additional, Rosenzweig, Erika, additional, Burger, Charles, additional, Chakinala, Murali, additional, Thenappan, Thenappan, additional, Elliott, Greg, additional, Simms, Robert, additional, Farber, Harrison, additional, Frantz, Robert, additional, Elwing, Jean, additional, Hill, Nicholas, additional, Ivy, Dunbar, additional, Klinger, James, additional, Nathan, Steven, additional, Oudiz, Ronald, additional, Robbins, Ivan, additional, Schilz, Robert, additional, Fortin, Terry, additional, Wilt, Jeffrey, additional, Yung, Delphine, additional, Austin, Eric, additional, Ahmad, Ferhaan, additional, Bhatt, Nitin, additional, Lahm, Tim, additional, Frost, Adaani, additional, Safdar, Zeenat, additional, Rehman, Zia, additional, Walter, Robert, additional, Torres, Fernando, additional, Bakshi, Sahil, additional, Archer, Stephen, additional, Argula, Rahul, additional, Barnett, Christopher, additional, Benza, Raymond, additional, Desai, Ankit, additional, and Maddipati, Veeranna, additional

Published
2021
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