부산대학교 도서관

Manry, Jérémy; Bastard, Paul; Gervais, Adrian; Le Voyer, Tom; Rosain, Jérémie; Philippot, Quentin; Michailidis, Eleftherios; Hoffmann, Hans-Heinrich; Eto, Shohei; Garcia-Prat, Marina; Bizien, Lucy; Parra-Martínez, Alba; Yang, Rui; Haljasmägi, Liis; Migaud, Mélanie; Särekannu, Karita; Maslovskaja, Julia; de Prost, Nicolas; Tandjaoui-Lambiotte, Yacine; Luyt, Charles-Edouard; Amador-Borrero, Blanca; Gaudet, Alexandre; Poissy, Julien; Morel, Pascal; Richard, Pascale; Cognasse, Fabrice; Troya, Jesús; 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; Mégarbane, 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; Anglicheau, Dany; Planas, Anna M.; Haerynck, Filomeen; Duvlis, Sotirija; Ozcelik, Tayfun; Keles, Sevgi; Bousfiha, Ahmed A.; Bakkouri, Jalila El; 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; van de Beek, Diederik; 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; Venet, 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, Fatemeh Saheb; Dorgham, Karim; Sallette, Jérôme; Sedkaoui, Souad Mehlal; AlKhater, Suzan; Rigo-Bonnin, Raúl; Morandeira, Francisco; Roussel, Lucie; Vinh, Donald C.; Erikstrup, Christian; 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; de Lamballerie, Xavier; Burdet, Charles; Bouadma, Lila; 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; Casanova, Jean-Laurent; Abel, Laurent; Cobat, Aurélie

Proceedings of the National Academy of Sciences of the United States of America, 2022 May . 119(21), 1-10.

Homsy, Jason; Zaidi, Samir; Shen, Yufeng; Ware, James S.; Samocha, Kaitlin E.; Karczewski, Konrad J.; DePalma, Steven R.; McKean, David; Wakimoto, Hiroko; Gorham, Josh; Jin, Sheng Chih; Deanfield, John; Giardini, Alessandro; Porter, George A.; Kim, Richard; Bilguvar, Kaya; López-Giráldez, Francesc; Tikhonova, Irina; Mane, Shrikant; Romano-Adesman, Angela; Qi, Hongjian; Vardarajan, Badri; Ma, Lijiang; Daly, Mark; Roberts, Amy E.; Russell, Mark W.; Mital, Seema; Newburger, Jane W.; Gaynor, J. William; Breitbart, Roger E.; Iossifov, Ivan; Ronemus, Michael; Sanders, Stephan J.; Kaltman, Jonathan R.; Seidman, Jonathan G.; Brueckner, Martina; Gelb, Bruce D.; Goldmuntz, Elizabeth; Lifton, Richard P.; Seidman, Christine E.; Chung, Wendy K.

Science, 2015 Dec 01. 350(6265), 1262-1266.

Ozduman, K.; Ulgen, E.; Karacan, S.; Gerlevik, U.; Can, O.; Bilguvar, K.; Akyerli, C.B.; Yuksel, S.K.; Ersen-Danyeli, A.; Tihan, T.; Yakicier, C.; Sezerman, O.U.; Pamir, M.N.

European Journal of Cancer. 138:S32-S33

Novarino, Gaia; Fenstermaker, Ali G.; Zaki, Maha S.; Hofree, Matan; Silhavy, Jennifer L.; Heiberg, Andrew D.; Abdellateef, Mostafa; Rosti, Basak; Scott, Eric; Mansour, Lobna; Masri, Amira; Kayserili, Hulya; Al-Aama, Jumana Y.; Abdel-Salam, Ghada M. H.; Karminejad, Ariana; Kara, Majdi; Kara, Bulent; Bozorgmehri, Bita; Ben-Omran, Tawfeg; Mojahedi, Faezeh; Mahmoud, Iman Gamal El Din; Bouslam, Naima; Bouhouche, Ahmed; Benomar, Ali; Hanein, Sylvain; Raymond, Laure; Forlani, Sylvie; Mascaro, Massimo; Selim, Laila; Shehata, Nabil; Al-Allawi, Nasir; Bindu, P.S.; Azam, Matloob; Gunel, Murat; Caglayan, Ahmet; Bilguvar, Kaya; Tolun, Aslihan; Issa, Mahmoud Y.; Schroth, Jana; Spencer, Emily G.; Rosti, Rasim O.; Akizu, Naiara; Vaux, Keith K.; Johansen, Anide; Koh, Alice A.; Megahed, Hisham; Durr, Alexandra; Brice, Alexis; Stevanin, Giovanni; Gabriel, Stacy B.; Ideker, Trey; Gleeson, Joseph G.

Science, 2014 Jan . 343(6170), 506-511.

Bilguvar, Kaya; Tyagi, Navneet K.; Ozkara, Cigdem; Tuysuz, Beyhan; Bakircioglu, Mehmet; Choi, Murim; Delil, Sakir; Caglayan, Ahmet O.; Baranoski, Jacob F.; Erturk, Ozdem; Yalcinkaya, Cengiz; Karacorlu, Murat; Dincer, Alp; Johnson, Michele H.; Mane, Shrikant; Chandra, Sreeganga S.; Louvi, Angeliki; Boggon, Titus J.; Lifton, Richard P.; Horwich, Arthur L.; Gunel, Murat

Proceedings of the National Academy of Sciences of the United States of America, 2013 Feb . 110(9), 3489-3494.

Richard E. M.; Bakhtiari S.; Marsh A. P. L.; Kaiyrzhanov R.; Wagner M.; Shetty S.; Pagnozzi A.; Nordlie S. M.; Guida B. S.; Cornejo P.; Magee H.; Liu J.; Norton B. Y.; Webster R. I.; Worgan L.; Hakonarson H.; Li J.; Guo Y.; Jain M.; Blesson A.; Rodan L. H.; Abbott M. -A.; Comi A.; Cohen J. S.; Alhaddad B.; Meitinger T.; Lenz D.; Ziegler A.; Kotzaeridou U.; Brunet T.; Chassevent A.; Smith-Hicks C.; Ekstein J.; Weiden T.; Hahn A.; Zharkinbekova N.; Turnpenny P.; Tucci A.; Yelton M.; Horvath R.; Gungor S.; Hiz S.; Oktay Y.; Lochmuller H.; Zollino M.; Morleo M.; Marangi G.; Nigro V.; Torella A.; Pinelli M.; Amenta S.; Husain R. A.; Grossmann B.; Rapp M.; Steen C.; Marquardt I.; Grimmel M.; Grasshoff U.; Korenke G. C.; Owczarek-Lipska M.; Neidhardt J.; Radio F. C.; Mancini C.; Claps Sepulveda D. J.; McWalter K.; Begtrup A.; Crunk A.; Guillen Sacoto M. J.; Person R.; Schnur R. E.; Mancardi M. M.; Kreuder F.; Striano P.; Zara F.; Chung W. K.; Marks W. A.; van Eyk C. L.; Webber D. L.; Corbett M. A.; Harper K.; Berry J. G.; MacLennan A. H.; Gecz J.; Tartaglia M.; Salpietro V.; Christodoulou J.; Kaslin J.; Padilla-Lopez S.; Bilguvar K.; Munchau A.; Ahmed Z. M.; Hufnagel R. B.; Fahey M. C.; Maroofian R.; Houlden H.; Sticht H.; Mane S. M.; Rad A.; Vona B.; Jin S. C.; Haack T. B.; Makowski C.; Hirsch Y.; Riazuddin S.; Kruer M. C.

Am. J. Hum. Genet. 108, 2006-2016 (2021)

Büyükgöl, F.; Gürdamar, B.; Bülbül, A.; Sever, E.; Sezerman, O.U.; Aluçlu, M.U.; Beckmann, Y.; Uzunköprü, C.; Bilguvar, K.; Boz, C.; Bünül, S.D.; Efendi, H.; Çetin, Ö.; Turanlı, E.T.; Demir, C.F.; Demir, S.; Taşdelen, B.; Duman, T.; Ekmekçi, Ö.; Karaman, B.; Yüceyar, N.; Ertetik, U.; Ethemoğlu, Ö.; Everest, E.; Gümüş, H.; Gündüz, T.; Kürtüncü, M.; Karabudak, R.; Mutluer, M.; Reda, M.D.; Voyvoda, U.; Saip, S.; Tütüncü, M.; Uygunoğlu, U.; Siva, A.; Seferoğlu, M.; Şen, S.; Terzi, M.; Tecellioğlu, M.; Tuncer, A.; Turan, Ö.F.; Uncu, G.; Yetkin, M.F.

In: Scientific Reports. (Scientific Reports, December 2025, 15(1))

Onur Erdogan; Şeyma Çolakoğlu Özkaya; Can Erzik; Kaya Bilguvar; Kazım Yalçın Arga; Fatih Bayraklı

OMICS: A Journal of Integrative Biology. 27:426-433

Wiessner, M.; Maroofian, R.; Ni, M. Y.; Pedroni, A.; Müller, J. S.; Stucka, R.; Beetz, C.; Efthymiou, S.; Santorelli, F. M.; Alfares, A. A.; Zhu, Changlian, 1964; Uhrova Meszarosova, A.; Alehabib, E.; Bakhtiari, S.; Janecke, A. R.; Otero, M. G.; Chen, J. Y. H.; Peterson, J. T.; Strom, T. M.; De Jonghe, P.; Deconinck, T.; De Ridder, W.; De Winter, J.; Pasquariello, R.; Ricca, I.; Alfadhel, M.; Van De Warrenburg, B. P.; Portier, R.; Bergmann, C.; Ghasemi Firouzabadi, S.; Jin, S. C.; Bilguvar, K.; Hamed, S.; Abdelhameed, M.; Haridy, N. A.; Maqbool, S.; Rahman, F.; Anwar, N.; Carmichael, J.; Pagnamenta, A.; Wood, N. W.; Tran Mau-Them, F.; Haack, T.; Di Rocco, M.; Ceccherini, I.; Iacomino, M.; Zara, F.; Salpietro, V.; Scala, M.; Rusmini, M.; Xu, Y.; Wang, Y.; Suzuki, Y.; Koh, K.; Nan, H.; Ishiura, H.; Tsuji, S.; Lambert, L.; Schmitt, E.; Lacaze, E.; Küpper, H.; Dredge, D.; Skraban, C.; Goldstein, A.; Willis, M. J. H.; Grand, K.; Graham, J. M.; Lewis, R. A.; Millan, F.; Duman, Ö; Dündar, N.; Uyanik, G.; Schöls, L.; Nürnberg, P.; Nürnberg, G.; Catala Bordes, A.; Seeman, P.; Kuchar, M.; Darvish, H.; Rebelo, A.; Bouçanova, F.; Medard, J. J.; Chrast, R.; Auer-Grumbach, M.; Alkuraya, F. S.; Shamseldin, H.; Al Tala, S.; Rezazadeh Varaghchi, J.; Najafi, M.; Deschner, S.; Gläser, D.; Hüttel, W.; Kruer, M. C.; Kamsteeg, E. J.; Takiyama, Y.; Züchner, S.; Baets, J.; Synofzik, M.; Schüle, R.; Horvath, R.; Houlden, H.; Bartesaghi, L.; Lee, H. J.; Ampatzis, K.; Pierson, T. M.; Senderek, J.

Brain : a journal of neurology. 144(5):1422-1434

Zhang Q.; Liu Z.; Moncada-Velez M.; Chen J.; Ogishi M.; Bigio B.; Yang R.; Arias A. A.; Zhou Q.; Han J. E.; Ugurbil A. C.; Zhang P.; Rapaport F.; Li J.; Spaan A. N.; Boisson B.; Boisson-Dupuis S.; Bustamante J.; Puel A.; Ciancanelli M. J.; Zhang S. -Y.; Beziat V.; Jouanguy E.; Abel L.; Cobat A.; Casanova J. -L.; Bastard P.; Korol C.; Rosain J.; Philippot Q.; Chbihi M.; Lorenzo L.; Bizien L.; Neehus A. -L.; Kerner G.; Seeleuthner Y.; Manry J.; Le Voyer T.; Le Pen J.; Schneider W. M.; Razooky B. S.; Hoffmann H. -H.; Michailidis E.; Rice C. M.; Sabli I. K. D.; Hodeib S.; Sancho-Shimizu V.; Bilguvar K.; Ye J.; Maniatis T.; Bolze A.; Zhang Y.; Notarangelo L. D.; Su H. C.; Onodi F.; Korniotis S.; Karpf L.; Soumelis V.; Bonnet-Madin L.; Amara A.; Dorgham K.; Gorochov G.; Smith N.; Duffy D.; Moens L.; Meyts I.; Meade P.; Garcia-Sastre A.; Krammer F.; Corneau A.; Masson C.; Schmitt Y.; Schluter A.; Pujol A.; Khan T.; Marr N.; Fellay J.; Roussel L.; Vinh D. C.; Shahrooei M.; Alosaimi M. 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Science
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Science (New York, N.Y.) 370 (2020). doi:10.1126/science.abd4570
info:cnr-pdr/source/autori:Zhang Q.; Bastard P.; Liu Z.; Le Pen J.; Moncada-Velez M.; Chen J.; Ogishi M.; Sabli I.K.D.; Hodeib S.; Korol C.; Rosain J.; Bilguvar K.; Ye J.; Bolze A.; Bigio B.; Yang R.; Arias A.A.; Zhou Q.; Zhang Y.; Onodi F.; Korniotis S.; Karpf L.; Philippot Q.; Chbihi M.; Bonnet-Madin L.; Dorgham K.; Smith N.; Schneider W.M.; Razooky B.S.; Hoffmann H.-H.; Michailidis E.; Moens L.; Han J.E.; Lorenzo L.; Bizien L.; Meade P.; Neehus A.-L.; Ugurbil A.C.; Corneau A.; Kerner G.; Zhang P.; Rapaport F.; Seeleuthner Y.; Manry J.; Masson C.; Schmitt Y.; Schluter A.; Le Voyer T.; Khan T.; Li J.; Fellay J.; Roussel L.; Shahrooei M.; Alosaimi M.F.; Mansouri D.; Al-Saud H.; Al-Mulla F.; Almourfi F.; Al-Muhsen S.Z.; Alsohime F.; Al Turki S.; Hasanato R.; van de Beek D.; Biondi A.; Bettini L.R.; D'Angio' M.; Bonfanti P.; Imberti L.; Sottini A.; Paghera S.; Quiros-Roldan E.; Rossi C.; Oler A.J.; Tompkins M.F.; Alba C.; Vandernoot I.; Goffard J.-C.; Smits G.; Migeotte I.; Haerynck F.; Soler-Palacin P.; Martin-Nalda A.; Colobran R.; Morange P.-E.; Keles S.; Colkesen F.; Ozcelik T.; Yasar K.K.; Senoglu S.; Karabela SN.; Rodriguez-Gallego C.; Novelli G.; Hraiech S.; Tandjaoui-Lambiotte Y.; Duval X.; Laouenan C.; Snow A.L.; Dalgard C.L.; Milner J.D.; Vinh D.C.; Mogensen T.H.; Marr N.; Spaan A.N.; Boisson B.; Boisson-Dupuis S.; Bustamante J.; Puel A.; Ciancanelli M.J.; Meyts I.; Maniatis T.; Soumelis V.; Amara A.; Nussenzweig M.; Garcia-Sastre A.; Krammer F.; Pujol A.; Duffy D.; Lifton R.P.; Zhang S.-Y.; Gorochov G.; Beziat V.; Jouanguy E.; Sancho-Shimizu V.; Rice C.M.; Abel L.; Notarangelo L.D.; Cobat A.; Su H.C.; Casanova J.-L./titolo:Inborn errors of type I IFN immunity in patients with life-threatening COVID-19/doi:10.1126%2Fscience.abd4570/rivista:Science (New York, N.Y.)/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:370
Zhang, Q, Amsterdam UMC Covid-19 Biobank, COVID Human Genetic Effort, NIAID-USUHS/TAGC COVID Immunity Group, COVID Clinicians, Imagine COVID Group, COVID-STORM Clinicians, COVID-STORM Clinicians, French COVID Cohort Study Group & CoV-Contact Cohort 2020, 'Inborn errors of type I IFN immunity in patients with life-threatening COVID-19', Science, vol. 370, no. 6515, eabd4570. https://doi.org/10.1126/science.abd4570
Science, vol. 370, no. 6515, pp. eabd4570
Science (New York, N.Y.), 370 (6515
Zhang, Q, Bastard, P, Liu, Z, Le Pen, J, Moncada-Velez, M, Chen, J, Ogishi, M, Sabli, I K D, Hodeib, S, Korol, C, Rosain, J, Bilguvar, K, Ye, J, Bolze, A, Bigio, B, Yang, R, Arias, A A, Zhou, Q, Zhang, Y, Onodi, F, Korniotis, S, Karpf, L, Philippot, Q, Chbihi, M, Bonnet-Madin, L, Dorgham, K, Smith, N, Schneider, W M, Razooky, B S, Hoffmann, H H, Michailidis, E, Moens, L, Han, J E, Lorenzo, L, Bizien, L, Meade, P, Neehus, A L, Ugurbil, A C, Corneau, A, Kerner, G, Zhang, P, Rapaport, F, Seeleuthner, Y, Manry, J, Masson, C, Schmitt, Y, Schlüter, A, Li, J, Mogensen, T H, Casanova, J L, COVID-STORM Clinicians, COVID Clinicians, Imagine COVID Group, French COVID Cohort Study Group, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank, COVID Human Genetic Effort & NIAID-USUHS/TAGC COVID Immunity Group 2020, 'Inborn errors of type I IFN immunity in patients with life-threatening COVID-19', Science, vol. 370, no. 6515, eabd4570. https://doi.org/10.1126/science.abd4570

Paul Bastard; Lindsey B. Rosen; Qian Zhang; Eleftherios Michailidis; Hans-Heinrich Hoffmann; Yu Zhang; Karim Dorgham; Quentin Philippot; Jérémie Rosain; Vivien Béziat; Jérémy Manry; Elana Shaw; Liis Haljasmägi; Pärt Peterson; Lazaro Lorenzo; Lucy Bizien; Sophie Trouillet-Assant; Kerry Dobbs; Adriana Almeida de Jesus; Alexandre Belot; Anne Kallaste; Emilie Catherinot; Yacine Tandjaoui-Lambiotte; Jeremie Le Pen; Gaspard Kerner; Benedetta Bigio; Yoann Seeleuthner; Rui Yang; Alexandre Bolze; András N. Spaan; Ottavia M. Delmonte; Michael S. Abers; Alessandro Aiuti; Giorgio Casari; Vito Lampasona; Lorenzo Piemonti; Fabio Ciceri; Kaya Bilguvar; Richard P. Lifton; Marc Vasse; David M. Smadja; Mélanie Migaud; Jérome Hadjadj; Benjamin Terrier; Darragh Duffy; Lluis Quintana-Murci; Diederik van de Beek; Lucie Roussel; Donald C. Vinh; Stuart G. Tangye; Filomeen Haerynck; David Dalmau; Javier Martinez-Picado; Petter Brodin; Michel C. 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Su; Jean-Laurent Casanova; Andrés Augusto Arias; Bertrand Boisson; Soraya Boucherit; Jacinta Bustamante; Marwa Chbihi; Jie Chen; Maya Chrabieh; Tatiana Kochetkov; Tom Le Voyer; Dana Liu; Yelena Nemirovskaya; Masato Ogishi; Dominick Papandrea; Cécile Patissier; Franck Rapaport; Manon Roynard; Natasha Vladikine; Mark Woollett; Peng Zhang; Anuj Kashyap; Li Ding; Marita Bosticardo; Qinlu Wang; Sebastian Ochoa; Hui Liu; Samuel D. Chauvin; Michael Stack; Galina Koroleva; Neha Bansal; Clifton L. Dalgard; Andrew L. Snow; Jorge Abad; Sergio Aguilera-Albesa; Ozge Metin Akcan; Ilad Alavi Darazam; Juan C. Aldave; Miquel Alfonso Ramos; Seyed Alireza Nadji; Gulsum Alkan; Jerome Allardet-Servent; Luis M. Allende; Laia Alsina; Marie-Alexandra Alyanakian; Blanca Amador-Borrero; Zahir Amoura; Arnau Antolí; Sevket Arslan; Sophie Assant; Terese Auguet; Axelle Azot; Fanny Bajolle; Aurélie Baldolli; Maite Ballester; Hagit Baris Feldman; Benoit Barrou; Alexandra Beurton; Agurtzane Bilbao; Geraldine Blanchard-Rohner; Ignacio Blanco; Adeline Blandinières; Daniel Blazquez-Gamero; Marketa Bloomfield; Mireia Bolivar-Prados; Raphael Borie; Ahmed A. Bousfiha; Claire Bouvattier; Oksana Boyarchuk; Maria Rita P. Bueno; Juan José Cáceres Agra; Semra Calimli; Ruggero Capra; Maria Carrabba; Carlos Casasnovas; Marion Caseris; Martin Castelle; Francesco Castelli; Martín Castillo de Vera; Mateus V. Castro; Martin Chalumeau; Bruno Charbit; Matthew P. Cheng; Père Clavé; Bonaventura Clotet; Anna Codina; Fatih Colkesen; Fatma Colkesen; Roger Colobran; Cloé Comarmond; Angelo G. 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Science
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Science (New York, N.Y.) 370 (2020). doi:10.1126/science.abd4585
info:cnr-pdr/source/autori:Bastard P.; Rosen L.B.; Zhang Q.; Michailidis E.; Hoffmann H.-H.; Zhang Y.; Dorgham K.; Philippot Q.; Rosain J.; Beziat V.; Manry J.; Shaw E.; Haljasmagi L.; Peterson P.; Lorenzo L.; Bizien L.; Trouillet-Assant S.; Dobbs K.; de Jesus A.A.; Belot A.; Kallaste A.; Catherinot E.; Tandjaoui-Lambiotte Y.; Le Pen J.; Kerner G.; Bigio B.; Seeleuthner Y.; Yang R.; Bolze A.; Spaan A.N.; Delmonte O.M.; Abers M.S.; Aiuti A.; Casari G.; Lampasona V.; Piemonti L.; Ciceri F.; Bilguvar K.; Lifton R.P.; Vasse M.; Smadja D.M.; Migaud M.; Hadjadj J.; Terrier B.; Duffy D.; Quintana-Murci L.; van de Beek D.; Roussel L.; Vinh D.C.; Tangye S.G.; Haerynck F.; Dalmau D.; Martinez-Picado J.; Brodin P.; Nussenzweig M.C.; Boisson-Dupuis S.; Rodriguez-Gallego C.; Vogt G.; Mogensen T.H.; Oler A.J.; Gu J.; Burbelo P.D.; Cohen J.I.; Biondi A.; Bettini L.R.; D'Angio M.; Bonfanti P.; Rossignol P.; Mayaux J.; Rieux-Laucat F.; Husebye E.S.; Fusco F.; Ursini M.V.; Imberti L.; Sottini A.; Paghera S.; Quiros-Roldan E.; Rossi C.; Castagnoli R.; Montagna D.; Licari A.; Marseglia G.L.; Duval X.; Ghosn J.; Tsang J.S.; Goldbach-Mansky R.; Kisand K.; Lionakis M.S.; Puel A.; Zhang S.-Y.; Holland S.M.; Gorochov G.; Jouanguy E.; Rice C.M.; Cobat A.; Notarangelo L.D.; Abel L.; Su H.C.; Casanova J.-L./titolo:Autoantibodies against type I IFNs in patients with life-threatening COVID-19/doi:10.1126%2Fscience.abd4585/rivista:Science (New York, N.Y.)/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:370
Science (Wayville, S. Aust.) 370 (2020). doi:10.1126/science.abd4585
info:cnr-pdr/source/autori:Paul Bastard # 1 2 3, Lindsey B Rosen # 4, Qian Zhang # 3, Eleftherios Michailidis # 5, Hans-Heinrich Hoffmann # 5, Yu Zhang # 4, Karim Dorgham # 6, Quentin Philippot # 7 2, Jérémie Rosain # 7 2, Vivien Béziat # 7 2 3, Jérémy Manry 7 2, Elana Shaw 4, Liis Haljasmägi 8, Pärt Peterson 8, Lazaro Lorenzo 7 2, Lucy Bizien 7 2, Sophie Trouillet-Assant 9 10, Kerry Dobbs 4, Adriana Almeida de Jesus 4, Alexandre Belot 10 11 12, Anne Kallaste 13, Emilie Catherinot 14, Yacine Tandjaoui-Lambiotte 15, Jeremie Le Pen 5, Gaspard Kerner 7 2, Benedetta Bigio 3, Yoann Seeleuthner 7 2, Rui Yang 3, Alexandre Bolze 16, András N Spaan 3 17, Ottavia M Delmonte 4, Michael S Abers 4, Alessandro Aiuti 18, Giorgio Casari 18, Vito Lampasona 18, Lorenzo Piemonti 18, Fabio Ciceri 18, Kaya Bilguvar 19, Richard P Lifton 19 20 21, Marc Vasse 22, David M Smadja 23, Mélanie Migaud 7 2, Jérome Hadjadj 24, Benjamin Terrier 25, Darragh Duffy 26, Lluis Quintana-Murci 27 28, Diederik van de Beek 29, Lucie Roussel 30 31, Donald C Vinh 30 31, Stuart G Tangye 32 33, Filomeen Haerynck 34, David Dalmau 35, Javier Martinez-Picado 36 37 38, Petter Brodin 39 40, Michel C Nussenzweig 41 42, Stéphanie Boisson-Dupuis 7 2 3, Carlos Rodríguez-Gallego 43 44, Guillaume Vogt 45, Trine H Mogensen 46 47, Andrew J Oler 48, Jingwen Gu 48, Peter D Burbelo 49, Jeffrey I Cohen 50, Andrea Biondi 51, Laura Rachele Bettini 51, Mariella D'Angio 51, Paolo Bonfanti 52, Patrick Rossignol 53, Julien Mayaux 54, Frédéric Rieux-Laucat 24, Eystein S Husebye 55 56 57, Francesca Fusco 58, Matilde Valeria Ursini 58, Luisa Imberti 59, Alessandra Sottini 59, Simone Paghera 59, Eugenia Quiros-Roldan 60, Camillo Rossi 61, Riccardo Castagnoli 62, Daniela Montagna 63 64, Amelia Licari 62, Gian Luigi Marseglia 62, Xavier Duval 65 66 67 68 69, Jade Ghosn 68 69, HGID Lab; NIAID-USUHS Immune Response to COVID Group; COVID Clinicians; COVID-STORM Clinicians; Imagine COVID Group; French COVID Cohort Study Group; Milieu Intérieur Consortium; CoV-Contact Cohort; Amsterdam UMC Covid-19 Biobank; COVID Human Genetic Effort; John S Tsang 70 71, Raphaela Goldbach-Mansky 4, Kai Kisand 8, Michail S Lionakis 4, Anne Puel 7 2 3, Shen-Ying Zhang 7 2 3, Steven M Holland # 4, Guy Gorochov # 6 72, Emmanuelle Jouanguy # 7 2 3, Charles M Rice # 5, Aurélie Cobat # 7 2 3, Luigi D Notarangelo # 4, Laurent Abel # 7 2 3, Helen C Su # 4, Jean-Laurent Casanova/titolo:Autoantibodies against type I IFNs in patients with life-threatening COVID-19/doi:10.1126%2Fscience.abd4585/rivista:Science (Wayville, S. Aust.)/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:370
eabd4585
Milieu Intérieur Consortium, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank, COVID Human Genetic Effort, HGID Lab, NIAID-USUHS Immune Response to COVID Group, COVID Clinicians, COVID-STORM Clinicians, Imagine COVID Group & French COVID Cohort Study Group 2020, 'Autoantibodies against type I IFNs in patients with life-threatening COVID-19', Science, vol. 370, no. 6515, eabd4585. https://doi.org/10.1126/science.abd4585
Science, 370 (6515
Bastard, P, Rosen, L B, Zhang, Q, Michailidis, E, Hoffmann, H H, Zhang, Y, Dorgham, K, Philippot, Q, Rosain, J, Béziat, V, Manry, J, Shaw, E, Haljasmägi, L, Peterson, P, Lorenzo, L, Bizien, L, Trouillet-Assant, S, Dobbs, K, de Jesus, A A, Belot, A, Kallaste, A, Catherinot, E, Tandjaoui-Lambiotte, Y, Le Pen, J, Kerner, G, Bigio, B, Seeleuthner, Y, Yang, R, Bolze, A, Spaan, A N, Delmonte, O M, Abers, M S, Aiuti, A, Casari, G, Lampasona, V, Piemonti, L, Ciceri, F, Bilguvar, K, Lifton, R P, Vasse, M, Smadja, D M, Migaud, M, Hadjadj, J, Terrier, B, Duffy, D, Quintana-Murci, L, van de Beek, D, Roussel, L, Mogensen, T H, Casanova, J L, HGID Lab, NIAID-USUHS Immune Response to COVID Group, COVID Clinicians, COVID-STORM Clinicians, Imagine COVID Group, French COVID Cohort Study Group, Milieu Intérieur Consortium, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank & COVID Human Genetic Effort 2020, 'Autoantibodies against type I IFNs in patients with life-threatening COVID-19', Science, vol. 370, no. 6515, eabd4585. https://doi.org/10.1126/science.abd4585
SCIENCE
370:eabd4585

Yalcin K; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Alanya H; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Gultekin B; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Samper Figuera D; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Barak T; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Miyagishima DF; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Youngblood MW; Department of Neurosurgery, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.; Hjerthen MG; Department of Neurosurgery, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.; Brooks A; Department of Pathology, Yale School of Medicine, New Haven, CT, USA.; Samuel Lopez N; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; O'Brien J; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Chavez MM; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Dincer A; Department of Neurosurgery, Tufts Medical Center, Boston, MA, USA.; Wu H; Department of Pathology, Yale School of Medicine, New Haven, CT, USA.; Omay SB; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Department of Otolaryngology, Yale School of Medicine, New Haven, CT, USA.; Yasuno K; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Bilguvar K; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Yale Center for Genome Analysis, Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT, USA.; Department of Medical Genetics, School of Medicine, Departments of Translational Medicine, Genome Studies, and Biostatistics and Bioinformatics, Health Sciences Institute, Rare Diseases and Orphan Drugs Application and Research Center-ACURARE, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.; Ercan-Sencicek AG; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Mishra-Gorur K; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; McGuone D; Department of Pathology, Yale School of Medicine, New Haven, CT, USA.; Moliterno J; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Yale Cancer Center, Yale School of Medicine, New Haven, CT, USA.; Gunel M; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA. murat.gunel@yale.edu.; Department of Genetics, Yale School of Medicine, New Haven, CT, USA. murat.gunel@yale.edu.; Yale Cancer Center, Yale School of Medicine, New Haven, CT, USA. murat.gunel@yale.edu.; Erson-Omay EZ; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA. zeynep.erson@yale.edu.; Yale Cancer Center, Yale School of Medicine, New Haven, CT, USA. zeynep.erson@yale.edu.; Department of Biomedical Informatics and Data Science, Yale School of Medicine, New Haven, CT, USA. zeynep.erson@yale.edu.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Lopez A.; Lee S. E.; Wojta K.; Ramos E. M.; Klein E.; Chen J.; Boxer A. L.; Gorno-Tempini M. L.; Geschwind D. H.; Schlotawa L.; Ogryzko N. V.; Bigio E. H.; Rogalski E.; Weintraub S.; Mesulam M. M.; Fleming A.; Coppola G.; Miller B. L.; Rubinsztein D. C.; Agosta F.; Alberici A.; Babacan-Yildiz G.; Bennett D. A.; Bilguvar K.; Borroni B.; Caglayan A. O.; Combarros O.; Comi G.; Cortes E. P.; Ferrer I.; Genc S.; Gunel M.; Gylys K. H.; Indakoetxea B.; Karageorgiou C. E.; Karydas A.; Kilic U.; De Munain A. L.; Magnani G.; Mahley R. W.; Boneschi F. M.; Martinez J.; Mazzeo S.; Moreno F.; Padovani A.; Papatriantafyllou J.; Rogaeva E.; Sanchez-Juan P.; Santangelo R.; Small G. W.; Tarawneh R.; Tartaglia M. C.; Vonsattel J. P. G.; Yener G.

Brain
Brain, vol 140, iss 4

Aynekin B; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK.; Samur BM; Division of Child Neurology, Department of Pediatrics, Shands Children's Hospital, University of Florida, Gainesville, FL, USA.; Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.; Ozgul Gumus UG; Division of Pediatric Radiology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.; Bilguvar K; Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, CT, USA.; Department of Medical Genetics, School of Medicine, Acıbadem University, Istanbul, Turkey.; Gulec A; Division of Pediatric Neurology, Department of Pediatrics, Erciyes University Faculty of Medicine, Kayseri, Turkey.; Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Gumus H; Division of Pediatric Neurology, Department of Pediatrics, Erciyes University Faculty of Medicine, Kayseri, Turkey.; Caglayan AO; Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, CT, USA.; Department of Medical Genetics, School of Medicine, Dokuz Eylul University, Izmir, Turkey.; Per H; Division of Pediatric Neurology, Department of Pediatrics, Erciyes University Faculty of Medicine, Kayseri, Turkey.

Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE

Chatron, N.; Becker, F.; Morsy, H.; Schmidts, M.; Hardies, K.; Tuysuz, B.; Roselli, Sandra; Najafi, M.; Alkaya, D. U.; Ashrafzadeh, F.; Nabil, A.; Omar, T.; Maroofian, R.; Karimiani, E. G.; Hussien, H.; Kok, F.; Ramos, L.; Gunes, N.; Bilguvar, K.; Labalme, A.; Alix, E.; Sanlaville, D.; de Bellescize, J.; Poulat, A. L.; Moslemi, Ali-Reza; Lerche, H.; May, P.; Lesca, G.; Weckhuysen, S.; Tajsharghi, H.

Brain. 143(5):1447-1461

Özoğuz, A.; Uyan, Ö.; Birdal, G.; Iskender, C.; Ömür, Ö.; Lahut, S.; Agim, Z. S.; Kartal, E.; Parman, Y.; Tan, E.; Koç, F.; Deymeer, F.; Oflazer, P.; Hanağasý, H.; Gürvit, H.; Bilgiç, B.; Durmuş, H.; Ertaş, M.; Kotan, D.; Akalýn, M. A.; Güllüoğlu, H.; Zarifoğlu, M.; Aysal, F.; Döşoğlu, N.; Bilguvar, K.; Günel, M.; Keskin, Ö.; Akgün, T.; Özçelik, H.; Başak, A. N.

European Journal of Neurology. May 01, 2014 21 Suppl 1:63-63

Lardelli, R.M.; Schaffer, A.E.; Eggens, V.R.C.; Zaki, M.S.; Grainger, S.; Sathe, S.; Nostrand, E.L. van; Schlachetzki, Z.; Rosti, B.; Akizu, N.; Scott, E.; Silhavy, J.L.; Heckman, L.D.; Rosti, R.O.; Dikoglu, E.; Gregor, A.; Guemez-Gamboa, A.; Musaev, D.; Mande, R.; Widjaja, A.; Shaw, T.L.; Markmiller, S.; Marin-Valencia, I.; Davies, J.H.; Meirleir, L. de; Kayserili, H.; Altunoglu, U.; Freckmann, M.L.; Warwick, L.; Chitayat, D.; Blaser, S.; Caglayan, A.O.; Bilguvar, K.; Per, H.; Fagerberg, C.; Christesen, H.T.; Kibaek, M.; Aldinger, K.A.; Manchester, D.; Matsumoto, N.; Muramatsu, K.; Saitsu, H.; Shiina, M.; Ogata, K.; Foulds, N.; Dobyns, W.B.; Chi, N.C.; Traver, D.; Spaccini, L.; Bova, S.M.; Gabrie, S.B.; Gunel, M.; Valente, E.M.; Nassogne, M.C.; Bennett, E.J.; Yeo, G.W.; Baas, F.; Lykke-Andersen, J.; Gleeson, J.G.

Nat Genet
Nature Genetics, Vol. 49, no. 3, p. 457-464 (2017)
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Nature Genetics, vol 49, iss 3

Ege Ülgen; Sıla Karacan; Umut Gerlevik; Özge Can; Kaya Bilguvar; Yavuz Oktay; Cemaliye B. Akyerli; Şirin K. Yüksel; Ayça E. Danyeli; Tarık Tihan; O. Uğur Sezerman; M. Cengiz Yakıcıer; M. Necmettin Pamir; Koray Özduman

Biomedicines, Vol 8, Iss 12, p 574 (2020)

Caglayan, A O; Per, H; Akgumus, G; Gumus, H; Baranoski, J; Canpolat, M; Calik, M; Yikilmaz, A; Bilguvar, K; Kumandas, S; Gunel, M

Clinical Genetics. Oct 01, 2013 84(4):394-395

Kaymakcalan Celebiler H; Department of Translational Medicine, Acıbadem University, Istanbul, Turkey.; Department of Neurosurgery, Program on Neurogenetics, Yale University School of Medicine, New Haven, CT, USA.; Barak T; Department of Neurosurgery, Program on Neurogenetics, Yale University School of Medicine, New Haven, CT, USA.; Rai DK; Department of Neurosurgery, Program on Neurogenetics, Yale University School of Medicine, New Haven, CT, USA.; Kaya I; Department of Child and Adolescent Psychiatry, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.; Erbilgin S; Department of Child and Adolescent Psychiatry, Prof. Dr. Cemil Tascioglu City Hospital, Istanbul, Turkey.; Cikili Uytun M; Department of Child and Adolescent Psychiatry, Ankara University School of Medicine, Ankara, Turkey.; Oztop D; Department of Child and Adolescent Psychiatry, Ankara University School of Medicine, Ankara, Turkey.; Gumus H; Division of Pediatric Neurology, Department of Pediatrics, Erciyes University, School of Medicine, Kayseri, Turkey.; Per H; Division of Pediatric Neurology, Department of Pediatrics, Erciyes University, School of Medicine, Kayseri, Turkey.; Ceylaner S; Intergen Genetic Diagnosis and Research Center, Ankara, Turkey.; Bozkurt I; School of Medicine, Bahcesehir University, Istanbul, Turkey.; Kontaridis MI; Masonic Medical Research Institute, Utica, NY, USA.; Division of Cardiology, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA, USA.; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA, USA.; Harvard Stem Cell Institute, Harvard University, Cambridge, MA, USA.; Bilguvar K; Department of Translational Medicine, Acıbadem University, Istanbul, Turkey.; Department of Genetics, Yale Center for Genome Analysis (YCGA), Yale University, School of Medicine, New Haven, CT, USA.; Akhun N; Department of Radiology, American Hospital, Istanbul, Turkey.; Kilincaslan A; Department of Child and Adolescent Psychiatry, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.; Caglayan AO; Department of Neurosurgery, Program on Neurogenetics, Yale University School of Medicine, New Haven, CT, USA.; Department of Medical Genetics, Dokuz Eylul University, School of Medicine, Izmir, Turkey.; Erson-Omay EZ; Department of Neurosurgery, Program on Neurogenetics, Yale University School of Medicine, New Haven, CT, USA.; Gunel M; Department of Neurosurgery, Program on Neurogenetics, Yale University School of Medicine, New Haven, CT, USA.; Ercan-Sencicek AG; Department of Neurosurgery, Program on Neurogenetics, Yale University School of Medicine, New Haven, CT, USA.

Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE