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Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective (2023)

Félix, Têmis Maria ; Souza, Carolina Fischinger Moura de ; Oliveira, João Bosco; Rico-Restrepo, Mariana; Zanoteli, Edmar ; Zatz, Mayana ; Giugliani, Roberto

Source: International Journal for Equity in Health. Unidades: IB, FM

Subjects: GENOMAS, SEQUENCIAMENTO GENÉTICO, DOENÇAS RARAS

A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas

ABNT
FÉLIX, Têmis Maria et al. Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective. International Journal for Equity in Health, v. 22, n. 11, 2023Tradução . . Disponível em: https://doi.org/10.1186/s12939-022-01809-y. Acesso em: 07 jul. 2024.
APA
Félix, T. M., Souza, C. F. M. de, Oliveira, J. B., Rico-Restrepo, M., Zanoteli, E., Zatz, M., & Giugliani, R. (2023). Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective. International Journal for Equity in Health, 22( 11). doi:10.1186/s12939-022-01809-y
NLM
Félix TM, Souza CFM de, Oliveira JB, Rico-Restrepo M, Zanoteli E, Zatz M, Giugliani R. Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective [Internet]. International Journal for Equity in Health. 2023 ;22( 11):[citado 2024 jul. 07 ] Available from: https://doi.org/10.1186/s12939-022-01809-y
Vancouver
Félix TM, Souza CFM de, Oliveira JB, Rico-Restrepo M, Zanoteli E, Zatz M, Giugliani R. Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective [Internet]. International Journal for Equity in Health. 2023 ;22( 11):[citado 2024 jul. 07 ] Available from: https://doi.org/10.1186/s12939-022-01809-y

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths (2021)

Bastard, Paul ; Gervais, Adrian ; Voyer, Tom Le ; Rosain, Jérémie ; Philippot, Quentin; Manry, Jérémy ; Michailidis, Eleftherios ; Hoffmann, Hans-Heinrich ; Eto, Shohei; Garcia-Prat, Marina; Bizien, Lucy; Parra-Martínez, Alba; Yang, Rui; Liis, Haljasmägi; Migaud, Mélanie; Särekannu, Karita; Maslovskaja, Julia; Prost, Nicolas de; Tandjaoui-Lambiotte, Yacine; Luyt , Charles-Edouard; Amador-Borrero, Blanca; Alexandre, Gaudet; Poissy, Julien; Morel, Pascal; Richard, Pascale; Cognasse, Fabrice; Troya, Jesus; Trouillet-Assant, Sophie; Belot, Alexandre; Saker, Kahina; Garçon, Pierre; Rivière, Jacques G; Lagier, Jean-Christophe; Gentile, Stéphanie; Rosen, Lindsey B; Shaw, Elana; Morio, Tomohiro; Tanaka, Junko; Dalmau, David; Tharaux, Pierre-Louis; Sene, Damien; Stepanian, Alain; Megarbane, Bruno; Triantafyllia, Vasiliki; Fekkar, Arnaud; Heath, James R; Franco, José Luis; Anaya, Juan-Manuel; Solé-Violán, Jordi; Imberti, Luisa; Biondi, Andrea; Bonfanti, Paolo; Castagnoli, Riccardo; Delmonte, Ottavia M; Zhang, Yu; Snow, Andrew L; Holland, Steven M; Biggs, Catherine M; Moncada-Vélez, Marcela; Arias, Andrés Augusto; Lorenzo, Lazaro; Boucherit, Soraya; Coulibaly, Boubacar; Anglicheau, Dany; Planas, Anna M; Haerynck, Filomeen; Duvlis, Sotirija; Nussbaum, Robert L; Ozcelik, Tayfun; Keles, Sevgi; Bousfiha, Ahmed A; ElBakkouri, Jalila; Ramirez-Santana, Carolina; Paul, Stéphane; Pan-Hammarström, Qiang; Hammarström, Lennart; Dupont, Annabelle; Kurolap, Alina; Metz, Christine N; Aiuti, Alessandro; Casari, Giorgio; Lampasona, Vito; Ciceri, Fabio; Barreiros, Lucila A; Dominguez-Garrido, Elena; Vidigal, Mateus; Zatz, Mayana ; Beek, Diederik van de; Sahanic, Sabina; Tancevski, Ivan; Stepanovskyy, Yurii; Boyarchuk, Oksana; Nukui, Yoko; Tsumura, Miyuki; Vidaur, Loreto; Tangye, Stuart G; Burrel, Sonia; Duffy, Darragh; Quintana-Murci, Lluis; Klocperk, Adam; Kann, Nelli Y; Shcherbina, Anna; Lau, Yu-Lung; Leung, Daniel; Coulongeat, Matthieu; Marlet, Julien; Koning, Rutger; Reyes, Luis Felipe; Chauvineau-Grenier, Angélique; Vene, Fabienne; Monneret, Guillaume; Nussenzweig, Michel C; Arrestier, Romain; Boudhabhay, Idris; Baris-Feldman, Hagit; Hagin, David; Wauters, Joost; Meyts, Isabelle; Dyer, Adam H; Kennelly, Sean P; Bourke, Nollaig M; Halwani, Rabih; Sharif-Askari, Narjes Saheb; Dorgham, Karim; Sallette, Jérome; Sedkaoui, Souad Mehlal; AlKhater, Suzan; Rigo-Bonnin, Raúl; Morandeira, Francisco; Roussel, Lucie; Vinh, Donald C; Ostrowski, Sisse Rye; Condino Neto, Antonio ; Prando, Carolina ; Bondarenko, Anastasiia; Spaan, András N; Gilardin, Laurent; Fellay, Jacques; Lyonnet, Stanislas; Bilguvar, Kaya; Lifton, Richard P; Mane, Shrikant; Anderson, Mark S; Boisson, Bertrand; Béziat, Vivien; Zhang, Shen-Ying; Andreakos, Evangelos; Hermine, Olivier; Pujol, Aurora; Peterson, Pärt; Mogensen, Trine; H Rowen, Lee; Mond, James; Debette, Stéphanie; Lamballerie, Xavier de; Duval, Xavier; Mentré, France; Zins, Marie; Soler-Palacin, Pere; Colobran, Roger; Gorochov, Guy; Solanich, Xavier; Susen, Sophie; Martinez-Picado, Javier; Raoult, Didier; Vasse, Marc; Gregersen, Peter K; Piemonti, Lorenzo; Rodríguez-Gallego, Carlos; Notarangelo, Luigi D; Su, Helen C; Kisand, Kai; Okada, Satoshi; Puel, Anne; Jouanguy, Emmanuelle; Rice, Charles M; Tiberghien, Pierre; Zhang, Qian; Cobat, Aurélie; Abel, Laurent; Casanova, Jean-Laurent

Source: Science Immunology. Unidades: IB, ICB

Subjects: COVID-19, INFECÇÕES POR CORONAVIRUS, ANTICORPOS, IMUNOLOGIA, HOMENS

A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas

ABNT
BASTARD, Paul et al. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths. Science Immunology, v. 6, n. 62, p. 1-30, 2021Tradução . . Disponível em: https://doi.org/10.1126/sciimmunol.abl4340. Acesso em: 07 jul. 2024.
APA
Bastard, P., Gervais, A., Voyer, T. L., Rosain, J., Philippot, Q., Manry, J., et al. (2021). Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths. Science Immunology, 6( 62), 1-30. doi:10.1126/sciimmunol.abl4340
NLM
Bastard P, Gervais A, Voyer TL, Rosain J, Philippot Q, Manry J, Michailidis E, Hoffmann H-H, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Liis H, Migaud M, Särekannu K, Maslovskaja J, Prost N de, Tandjaoui-Lambiotte Y, Luyt C-E, Amador-Borrero B, Alexandre G, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier J-C, Gentile S, Rosen LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux P-L, Sene D, Stepanian A, Megarbane B, Triantafyllia V, Fekkar A, Heath JR, Franco JL, Anaya J-M, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte OM, Zhang Y, Snow AL, Holland SM, Biggs CM, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Coulibaly B, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Nussbaum RL, Ozcelik T, Keles S, Bousfiha AA, ElBakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarström Q, Hammarström L, Dupont A, Kurolap A, Metz CN, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros LA, Dominguez-Garrido E, Vidigal M, Zatz M, Beek D van de, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye SG, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann NY, Shcherbina A, Lau Y-L, Leung D, Coulongeat M, Marlet J, Koning R, Reyes LF, Chauvineau-Grenier A, Vene F, Monneret G, Nussenzweig MC, Arrestier R, Boudhabhay I, Baris-Feldman H, Hagin D, Wauters J, Meyts I, Dyer AH, Kennelly SP, Bourke NM, Halwani R, Sharif-Askari NS, Dorgham K, Sallette J, Sedkaoui SM, AlKhater S, Rigo-Bonnin R, Morandeira F, Roussel L, Vinh DC, Ostrowski SR, Condino Neto A, Prando C, Bondarenko A, Spaan AN, Gilardin L, Fellay J, Lyonnet S, Bilguvar K, Lifton RP, Mane S, Anderson MS, Boisson B, Béziat V, Zhang S-Y, Andreakos E, Hermine O, Pujol A, Peterson P, Mogensen T, H Rowen L, Mond J, Debette S, Lamballerie X de, Duval X, Mentré F, Zins M, Soler-Palacin P, Colobran R, Gorochov G, Solanich X, Susen S, Martinez-Picado J, Raoult D, Vasse M, Gregersen PK, Piemonti L, Rodríguez-Gallego C, Notarangelo LD, Su HC, Kisand K, Okada S, Puel A, Jouanguy E, Rice CM, Tiberghien P, Zhang Q, Cobat A, Abel L, Casanova J-L. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths [Internet]. Science Immunology. 2021 ; 6( 62): 1-30.[citado 2024 jul. 07 ] Available from: https://doi.org/10.1126/sciimmunol.abl4340
Vancouver
Bastard P, Gervais A, Voyer TL, Rosain J, Philippot Q, Manry J, Michailidis E, Hoffmann H-H, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Liis H, Migaud M, Särekannu K, Maslovskaja J, Prost N de, Tandjaoui-Lambiotte Y, Luyt C-E, Amador-Borrero B, Alexandre G, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier J-C, Gentile S, Rosen LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux P-L, Sene D, Stepanian A, Megarbane B, Triantafyllia V, Fekkar A, Heath JR, Franco JL, Anaya J-M, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte OM, Zhang Y, Snow AL, Holland SM, Biggs CM, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Coulibaly B, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Nussbaum RL, Ozcelik T, Keles S, Bousfiha AA, ElBakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarström Q, Hammarström L, Dupont A, Kurolap A, Metz CN, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros LA, Dominguez-Garrido E, Vidigal M, Zatz M, Beek D van de, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye SG, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann NY, Shcherbina A, Lau Y-L, Leung D, Coulongeat M, Marlet J, Koning R, Reyes LF, Chauvineau-Grenier A, Vene F, Monneret G, Nussenzweig MC, Arrestier R, Boudhabhay I, Baris-Feldman H, Hagin D, Wauters J, Meyts I, Dyer AH, Kennelly SP, Bourke NM, Halwani R, Sharif-Askari NS, Dorgham K, Sallette J, Sedkaoui SM, AlKhater S, Rigo-Bonnin R, Morandeira F, Roussel L, Vinh DC, Ostrowski SR, Condino Neto A, Prando C, Bondarenko A, Spaan AN, Gilardin L, Fellay J, Lyonnet S, Bilguvar K, Lifton RP, Mane S, Anderson MS, Boisson B, Béziat V, Zhang S-Y, Andreakos E, Hermine O, Pujol A, Peterson P, Mogensen T, H Rowen L, Mond J, Debette S, Lamballerie X de, Duval X, Mentré F, Zins M, Soler-Palacin P, Colobran R, Gorochov G, Solanich X, Susen S, Martinez-Picado J, Raoult D, Vasse M, Gregersen PK, Piemonti L, Rodríguez-Gallego C, Notarangelo LD, Su HC, Kisand K, Okada S, Puel A, Jouanguy E, Rice CM, Tiberghien P, Zhang Q, Cobat A, Abel L, Casanova J-L. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths [Internet]. Science Immunology. 2021 ; 6( 62): 1-30.[citado 2024 jul. 07 ] Available from: https://doi.org/10.1126/sciimmunol.abl4340

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