Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome

por Mao, Youying, Schneider, Ronen, van der Ven, Peter F.M., Assent, Marvin, Lohanadan, Keerthika, Klämbt, Verena, Buerger, Florian, Kitzler, Thomas M., Deutsch, Konstantin, Nakayama, Makiko, Majmundar, Amar J., Mann, Nina, Hermle, Tobias, Onuchic-Whitford, Ana C., Zhou, Wei, Margam, Nandini Nagarajan, Duncan, Roy, Marquez, Jonathan, Khokha, Mustafa, Fathy, Hanan M., Kari, Jameela A., El Desoky, Sherif, Eid, Loai A., Awad, Hazem Subhi, Al-Saffar, Muna, Mane, Shrikant, Lifton, Richard P., Fürst, Dieter O., Shril, Shirlee, Hildebrandt, Friedhelm
Publicado 2020

Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency

por Ward, Tarsha, Tai, Warren, Morton, Sarah, Impens, Francis, Van Damme, Petra, Van Haver, Delphi, Timmerman, Evy, Venturini, Gabriela, Zhang, Kehan, Jang, Min Young, Willcox, Jon A.L., Haghighi, Alireza, Gelb, Bruce D., Chung, Wendy K., Goldmuntz, Elizabeth, Porter, George A., Lifton, Richard P., Brueckner, Martina, Yost, H. Joseph, Bruneau, Benoit G., Gorham, Joshua, Kim, Yuri, Pereira, Alexandre, Homsy, Jason, Benson, Craig C., DePalma, Steven R., Varland, Sylvia, Chen, Christopher S., Arnesen, Thomas, Gevaert, Kris, Seidman, Christine, Seidman, J.G.
Publicado 2021

Comprehensive Re-Sequencing of Adrenal Aldosterone Producing Lesions Reveal Three Somatic Mutations near the KCNJ5 Potassium Channel Selectivity Filter

por Åkerström, Tobias, Crona, Joakim, Delgado Verdugo, Alberto, Starker, Lee F., Cupisti, Kenko, Willenberg, Holger S., Knoefel, Wolfram T., Saeger, Wolfgang, Feller, Alfred, Ip, Julian, Soon, Patsy, Anlauf, Martin, Alesina, Pier F., Schmid, Kurt W., Decaussin, Myriam, Levillain, Pierre, Wängberg, Bo, Peix, Jean-Louis, Robinson, Bruce, Zedenius, Jan, Bäckdahl, Martin, Caramuta, Stefano, Iwen, K. Alexander, Botling, Johan, Stålberg, Peter, Kraimps, Jean-Louis, Dralle, Henning, Hellman, Per, Sidhu, Stan, Westin, Gunnar, Lehnert, Hendrik, Walz, Martin K., Åkerström, Göran, Carling, Tobias, Choi, Murim, Lifton, Richard P., Björklund, Peyman
Publicado 2012

Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy

por Khoshkhoo, Sattar, Wang, Yilan, Chahine, Yasmine, Erson-Omay, E. Zeynep, Robert, Stephanie M., Kiziltug, Emre, Damisah, Eyiyemisi C., Nelson-Williams, Carol, Zhu, Guangya, Kong, Wenna, Huang, August Yue, Stronge, Edward, Phillips, H. Westley, Chhouk, Brian H., Bizzotto, Sara, Chen, Ming Hui, Adikari, Thiuni N., Ye, Zimeng, Witkowski, Tom, Lai, Dulcie, Lee, Nadine, Lokan, Julie, Scheffer, Ingrid E., Berkovic, Samuel F., Haider, Shozeb, Hildebrand, Michael S., Yang, Edward, Gunel, Murat, Lifton, Richard P., Richardson, R. Mark, Blümcke, Ingmar, Alexandrescu, Sanda, Huttner, Anita, Heinzen, Erin L., Zhu, Jidong, Poduri, Annapurna, DeLanerolle, Nihal, Spencer, Dennis D., Lee, Eunjung Alice, Walsh, Christopher A., Kahle, Kristopher T.
Publicado 2023

Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis

por Kiryluk, Krzysztof, Li, Yifu, Sanna-Cherchi, Simone, Rohanizadegan, Mersedeh, Suzuki, Hitoshi, Eitner, Frank, Snyder, Holly J., Choi, Murim, Hou, Ping, Scolari, Francesco, Izzi, Claudia, Gigante, Maddalena, Gesualdo, Loreto, Savoldi, Silvana, Amoroso, Antonio, Cusi, Daniele, Zamboli, Pasquale, Julian, Bruce A., Novak, Jan, Wyatt, Robert J., Mucha, Krzysztof, Perola, Markus, Kristiansson, Kati, Viktorin, Alexander, Magnusson, Patrik K., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Stefansson, Kari, Boland, Anne, Metzger, Marie, Thibaudin, Lise, Wanner, Christoph, Jager, Kitty J., Goto, Shin, Maixnerova, Dita, Karnib, Hussein H., Nagy, Judit, Panzer, Ulf, Xie, Jingyuan, Chen, Nan, Tesar, Vladimir, Narita, Ichiei, Berthoux, Francois, Floege, Jürgen, Stengel, Benedicte, Zhang, Hong, Lifton, Richard P., Gharavi, Ali G.
Publicado 2012

FAT1 mutations cause a glomerulotubular nephropathy

por Gee, Heon Yung, Sadowski, Carolin E., Aggarwal, Pardeep K., Porath, Jonathan D., Yakulov, Toma A., Schueler, Markus, Lovric, Svjetlana, Ashraf, Shazia, Braun, Daniela A., Halbritter, Jan, Fang, Humphrey, Airik, Rannar, Vega-Warner, Virginia, Cho, Kyeong Jee, Chan, Timothy A., Morris, Luc G. T., ffrench-Constant, Charles, Allen, Nicholas, McNeill, Helen, Büscher, Rainer, Kyrieleis, Henriette, Wallot, Michael, Gaspert, Ariana, Kistler, Thomas, Milford, David V., Saleem, Moin A., Keng, Wee Teik, Alexander, Stephen I., Valentini, Rudolph P., Licht, Christoph, Teh, Jun C., Bogdanovic, Radovan, Koziell, Ania, Bierzynska, Agnieszka, Soliman, Neveen A., Otto, Edgar A., Lifton, Richard P., Holzman, Lawrence B., Sibinga, Nicholas E. S., Walz, Gerd, Tufro, Alda, Hildebrandt, Friedhelm
Publicado 2016

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia

por Zhang, Qian, Matuozzo, Daniela, Le Pen, Jérémie, Lee, Danyel, Moens, Leen, Asano, Takaki, Bohlen, Jonathan, Liu, Zhiyong, Moncada-Velez, Marcela, Kendir-Demirkol, Yasemin, Jing, Huie, Bizien, Lucy, Marchal, Astrid, Abolhassani, Hassan, Delafontaine, Selket, Bucciol, Giorgia, Bayhan, Gulsum Ical, Keles, Sevgi, Kiykim, Ayca, Hancerli, Selda, Haerynck, Filomeen, Florkin, Benoit, Hatipoglu, Nevin, Ozcelik, Tayfun, Morelle, Guillaume, Zatz, Mayana, Ng, Lisa F.P., Lye, David Chien, Young, Barnaby Edward, Leo, Yee-Sin, Dalgard, Clifton L., Lifton, Richard P., Renia, Laurent, Meyts, Isabelle, Jouanguy, Emmanuelle, Hammarström, Lennart, Pan-Hammarström, Qiang, Boisson, Bertrand, Bastard, Paul, Su, Helen C., Boisson-Dupuis, Stéphanie, Abel, Laurent, Rice, Charles M., Zhang, Shen-Ying, Cobat, Aurélie, Casanova, Jean-Laurent
Publicado 2022

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

por Jin, Sheng Chih, Homsy, Jason, Zaidi, Samir, Lu, Qiongshi, Morton, Sarah, DePalma, Steven R., Zeng, Xue, Qi, Hongjian, Chang, Weni, Sierant, Michael C., Hung, Wei-Chien, Haider, Shozeb, Zhang, Junhui, Knight, James, Bjornson, Robert D., Castaldi, Christopher, Tikhonoa, Irina R., Bilguvar, Kaya, Mane, Shrikant M., Sanders, Stephan J., Mital, Seema, Russell, Mark, Gaynor, William, Deanfield, John, Giardini, Alessandro, Porter, George A., Srivastava, Deepak, Lo, Cecelia W., Shen, Yufeng, Watkins, W. Scott, Yandell, Mark, Yost, H. Joseph, Tristani-Firouzi, Martin, Newburger, Jane W., Roberts, Amy E., Kim, Richard, Zhao, Hongyu, Kaltman, Jonathan R., Goldmuntz, Elizabeth, Chung, Wendy K., Seidman, Jonathan G., Gelb, Bruce D., Seidman, Christine E., Lifton, Richard P., Brueckner, Martina
Publicado 2017

Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia

por Dong, Weilai, Jin, Sheng Chih, Allocco, August, Zeng, Xue, Sheth, Amar H., Panchagnula, Shreyas, Castonguay, Annie, Lorenzo, Louis-Étienne, Islam, Barira, Brindle, Geneviève, Bachand, Karine, Hu, Jamie, Sularz, Agata, Gaillard, Jonathan, Choi, Jungmin, Dunbar, Ashley, Nelson-Williams, Carol, Kiziltug, Emre, Furey, Charuta Gavankar, Conine, Sierra, Duy, Phan Q., Kundishora, Adam J., Loring, Erin, Li, Boyang, Lu, Qiongshi, Zhou, Geyu, Liu, Wei, Li, Xinyue, Sierant, Michael C., Mane, Shrikant, Castaldi, Christopher, López-Giráldez, Francesc, Knight, James R., Sekula, Raymond F., Simard, J. Marc, Eskandar, Emad N., Gottschalk, Christopher, Moliterno, Jennifer, Günel, Murat, Gerrard, Jason L., Dib-Hajj, Sulayman, Waxman, Stephen G., Barker, Fred G., Alper, Seth L., Chahine, Mohamed, Haider, Shozeb, De Koninck, Yves, Lifton, Richard P., Kahle, Kristopher T.
Publicado 2020

Mutations in Kelch-like 3 and Cullin 3 cause hypertension and electrolyte abnormalities

por Boyden, Lynn M., Choi, Murim, Choate, Keith A., Nelson-Williams, Carol J., Farhi, Anita, Toka, Hakan R., Tikhonova, Irina R., Bjornson, Robert, Mane, Shrikant M., Colussi, Giacomo, Lebel, Marcel, Gordon, Richard D., Semmekrot, Ben A., Poujol, Alain, Välimäki, Matti J., De Ferrari, Maria E., Sanjad, Sami A., Gutkin, Michael, Karet, Fiona E., Tucci, Joseph R., Stockigt, Jim R., Keppler-Noreuil, Kim M., Porter, Craig C., Anand, Sudhir K., Whiteford, Margo L., Davis, Ira D., Dewar, Stephanie B., Bettinelli, Alberto, Fadrowski, Jeffrey J., Belsha, Craig W., Hunley, Tracy E., Nelson, Raoul D., Trachtman, Howard, Cole, Trevor R. P., Pinsk, Maury, Bockenhauer, Detlef, Shenoy, Mohan, Vaidyanathan, Priya, Foreman, John W., Rasoulpour, Majid, Thameem, Farook, Al-Shahrouri, Hania Z., Radhakrishnan, Jai, Gharavi, Ali G., Goilav, Beatrice, Lifton, Richard P.
Publicado 2012

De novo mutations in histone modifying genes in congenital heart disease

por Zaidi, Samir, Choi, Murim, Wakimoto, Hiroko, Ma, Lijiang, Jiang, Jianming, Overton, John D., Romano-Adesman, Angela, Bjornson, Robert D., Breitbart, Roger E., Brown, Kerry K., Carriero, Nicholas J., Cheung, Yee Him, Deanfield, John, DePalma, Steve, Fakhro, Khalid A., Glessner, Joseph, Hakonarson, Hakon, Italia, Michael, Kaltman, Jonathan R., Kaski, Juan, Kim, Richard, Kline, Jennie K., Lee, Teresa, Leipzig, Jeremy, Lopez, Alexander, Mane, Shrikant M., Mitchell, Laura E., Newburger, Jane W., Parfenov, Michael, Pe'er, Itsik, Porter, George, Roberts, Amy, Sachidanandam, Ravi, Sanders, Stephan J., Seiden, Howard S., State, Mathew W., Subramanian, Sailakshmi, Tikhonova, Irina R., Wang, Wei, Warburton, Dorothy, White, Peter S., Williams, Ismee A., Zhao, Hongyu, Seidman, Jonathan G., Brueckner, Martina, Chung, Wendy K., Gelb, Bruce D., Goldmuntz, Elizabeth, Seidman, Christine E., Lifton, Richard P.
Publicado 2013

Genome-wide association study of intracranial aneurysm identifies three new risk loci

por Yasuno, Katsuhito, Bilguvar, Kaya, Bijlenga, Philippe, Low, Siew Kee, Krischek, Boris, Auburger, Georg, Simon, Matthias, Krex, Dietmar, Arlier, Zulfikar, Nayak, Nikhil, Ruigrok, Ynte M, Niemela, Mika, Tajima, Atsushi, von und zu Fraunberg, Mikael, Doczi, Tamas, Wirjatijasa, Florentina, Hata, Akira, Blasco, Jordi, Oszvald, Agi, Kasuya, Hidetoshi, Zilani, Gulam, Schoch, Beate, Singh, Pankaj, Stüer, Carsten, Risselada, Roelof, Beck, Jürgen, Sola, Teresa, Ricciardi, Filomena, Aromaa, Arpo, Illig, Thomas, Schreiber, Stefan, van Duijn, Cornelia M, van den Berg, Leonard H, Perret, Claire, Proust, Carole, Roder, Constantin, Ozturk, Ali K, Gaál, Emília, Berg, Daniela, Geisen, Christof, Friedrich, Christoph M, Summers, Paul, Frangi, Alejandro F, State, Matthew W, Wichmann, HErich, Breteler, Monique M B, Wijmenga, Cisca, Mane, Shrikant, Peltonen, Leena, Elio, Vivas, Sturkenboom, Miriam CJM, Lawford, Patricia, Byrne, James, Macho, Juan, Sandalcioglu, Erol I, Meyer, Bernhard, Raabe, Andreas, Steinmetz, Helmuth, Rüfenacht, Daniel, Jääskeläinen, Juha E, Hernesniemi, Juha, Rinkel, Gabriel J E, Zembutsu, Hitoshi, Inoue, Ituro, Palotie, Aarno, Cambien, François, Nakamura, Yusuke, Lifton, Richard P, Günel, Murat
Publicado 2010

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

por Ashraf, Shazia, Kudo, Hiroki, Rao, Jia, Kikuchi, Atsuo, Widmeier, Eugen, Lawson, Jennifer A., Tan, Weizhen, Hermle, Tobias, Warejko, Jillian K., Shril, Shirlee, Airik, Merlin, Jobst-Schwan, Tilman, Lovric, Svjetlana, Braun, Daniela A., Gee, Heon Yung, Schapiro, David, Majmundar, Amar J., Sadowski, Carolin E., Pabst, Werner L., Daga, Ankana, van der Ven, Amelie T., Schmidt, Johanna M., Low, Boon Chuan, Gupta, Anjali Bansal, Tripathi, Brajendra K., Wong, Jenny, Campbell, Kirk, Metcalfe, Kay, Schanze, Denny, Niihori, Tetsuya, Kaito, Hiroshi, Nozu, Kandai, Tsukaguchi, Hiroyasu, Tanaka, Ryojiro, Hamahira, Kiyoshi, Kobayashi, Yasuko, Takizawa, Takumi, Funayama, Ryo, Nakayama, Keiko, Aoki, Yoko, Kumagai, Naonori, Iijima, Kazumoto, Fehrenbach, Henry, Kari, Jameela A., El Desoky, Sherif, Jalalah, Sawsan, Bogdanovic, Radovan, Stajić, Nataša, Zappel, Hildegard, Rakhmetova, Assel, Wassmer, Sharon-Rose, Jungraithmayr, Therese, Strehlau, Juergen, Kumar, Aravind Selvin, Bagga, Arvind, Soliman, Neveen A., Mane, Shrikant M., Kaufman, Lewis, Lowy, Douglas R., Jairajpuri, Mohamad A., Lifton, Richard P., Pei, York, Zenker, Martin, Kure, Shigeo, Hildebrandt, Friedhelm
Publicado 2018

Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

por Zhao, Shujuan, Mekbib, Kedous Y., van der Ent, Martijn A., Allington, Garrett, Prendergast, Andrew, Chau, Jocelyn E., Smith, Hannah, Shohfi, John, Ocken, Jack, Duran, Daniel, Furey, Charuta G., Hao, Le Thi, Duy, Phan Q., Reeves, Benjamin C., Zhang, Junhui, Nelson-Williams, Carol, Chen, Di, Li, Boyang, Nottoli, Timothy, Bai, Suxia, Rolle, Myron, Zeng, Xue, Dong, Weilai, Fu, Po-Ying, Wang, Yung-Chun, Mane, Shrikant, Piwowarczyk, Paulina, Fehnel, Katie Pricola, See, Alfred Pokmeng, Iskandar, Bermans J., Aagaard-Kienitz, Beverly, Moyer, Quentin J., Dennis, Evan, Kiziltug, Emre, Kundishora, Adam J., DeSpenza, Tyrone, Greenberg, Ana B. W., Kidanemariam, Seblewengel M., Hale, Andrew T., Johnston, James M., Jackson, Eric M., Storm, Phillip B., Lang, Shih-Shan, Butler, William E., Carter, Bob S., Chapman, Paul, Stapleton, Christopher J., Patel, Aman B., Rodesch, Georges, Smajda, Stanislas, Berenstein, Alejandro, Barak, Tanyeri, Erson-Omay, E. Zeynep, Zhao, Hongyu, Moreno-De-Luca, Andres, Proctor, Mark R., Smith, Edward R., Orbach, Darren B., Alper, Seth L., Nicoli, Stefania, Boggon, Titus J., Lifton, Richard P., Gunel, Murat, King, Philip D., Jin, Sheng Chih, Kahle, Kristopher T.
Publicado 2023

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens

por Kiryluk, Krzysztof, Li, Yifu, Scolari, Francesco, Sanna-Cherchi, Simone, Choi, Murim, Verbitsky, Miguel, Fasel, David, Lata, Sneh, Prakash, Sindhuri, Shapiro, Samantha, Fischman, Clara, Snyder, Holly J., Appel, Gerald, Izzi, Claudia, Viola, Battista Fabio, Dallera, Nadia, Vecchio, Lucia Del, Barlassina, Cristina, Salvi, Erika, Bertinetto, Francesca Eleonora, Amoroso, Antonio, Savoldi, Silvana, Rocchietti, Marcella, Amore, Alessandro, Peruzzi, Licia, Coppo, Rosanna, Salvadori, Maurizio, Ravani, Pietro, Magistroni, Riccardo, Ghiggeri, Gian Marco, Caridi, Gianluca, Bodria, Monica, Lugani, Francesca, Allegri, Landino, Delsante, Marco, Maiorana, Mariarosa, Magnano, Andrea, Frasca, Giovanni, Boer, Emanuela, Boscutti, Giuliano, Ponticelli, Claudio, Mignani, Renzo, Marcantoni, Carmelita, Di Landro, Domenico, Santoro, Domenico, Pani, Antonello, Polci, Rosaria, Feriozzi, Sandro, Chicca, Silvana, Galliani, Marco, Gigante, Maddalena, Gesualdo, Loreto, Zamboli, Pasquale, Maixnerová, Dita, Tesar, Vladimir, Eitner, Frank, Rauen, Thomas, Floege, Jürgen, Kovacs, Tibor, Nagy, Judit, Mucha, Krzysztof, Pączek, Leszek, Zaniew, Marcin, Mizerska-Wasiak, Małgorzata, Roszkowska-Blaim, Maria, Pawlaczyk, Krzysztof, Gale, Daniel, Barratt, Jonathan, Thibaudin, Lise, Berthoux, Francois, Canaud, Guillaume, Boland, Anne, Metzger, Marie, Panzer, Ulf, Suzuki, Hitoshi, Goto, Shin, Narita, Ichiei, Caliskan, Yasar, Xie, Jingyuan, Hou, Ping, Chen, Nan, Zhang, Hong, Wyatt, Robert J., Novak, Jan, Julian, Bruce A., Feehally, John, Stengel, Benedicte, Cusi, Daniele, Lifton, Richard P., Gharavi, Ali G.
Publicado 2014

Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

por Lee, Danyel, Pen, Jérémie Le, Yatim, Ahmad, Dong, Beihua, Aquino, Yann, Ogishi, Masato, Pescarmona, Rémi, Talouarn, Estelle, Rinchai, Darawan, Zhang, Peng, Perret, Magali, Liu, Zhiyong, Jordan, Iolanda, Bozdemir, Sefika Elmas, Bayhan, Gulsum Iclal, Beaufils, Camille, Bizien, Lucy, Bisiaux, Aurelie, Lei, Weite, Hasan, Milena, Chen, Jie, Gaughan, Christina, Asthana, Abhishek, Libri, Valentina, Luna, Joseph M., Jaffré, Fabrice, Hoffmann, H.-Heinrich, Michailidis, Eleftherios, Moreews, Marion, Seeleuthner, Yoann, Bilguvar, Kaya, Mane, Shrikant, Flores, Carlos, Zhang, Yu, Arias, Andrés A., Bailey, Rasheed, Schlüter, Agatha, Milisavljevic, Baptiste, Bigio, Benedetta, Voyer, Tom Le, Materna, Marie, Gervais, Adrian, Moncada-Velez, Marcela, Pala, Francesca, Lazarov, Tomi, Levy, Romain, Neehus, Anna-Lena, Rosain, Jérémie, Peel, Jessica, Chan, Yi-Hao, Morin, Marie-Paule, Pino-Ramirez, Rosa Maria, Belkaya, Serkan, Lorenzo, Lazaro, Anton, Jordi, Delafontaine, Selket, Toubiana, Julie, Bajolle, Fanny, Fumadó, Victoria, DeDiego, Marta L., Fidouh, Nadhira, Rozenberg, Flore, Pérez-Tur, Jordi, Chen, Shuibing, Evans, Todd, Geissmann, Frédéric, Lebon, Pierre, Weiss, Susan R., Bonnet, Damien, Duval, Xavier, Pan-Hammarström, Qiang, Planas, Anna M., Meyts, Isabelle, Haerynck, Filomeen, Pujol, Aurora, Sancho-Shimizu, Vanessa, Dalgard, Clifford L., Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Boisson, Bertrand, Maniatis, Tom, Zhang, Qian, Bastard, Paul, Notarangelo, Luigi, Béziat, Vivien, de Diego, Rebeca Perez, Rodriguez-Gallego, Carlos, Su, Helen C., Lifton, Richard P., Jouanguy, Emmanuelle, Cobat, Aurélie, Alsina, Laia, Keles, Sevgi, Haddad, Elie, Abel, Laurent, Belot, Alexandre, Quintana-Murci, Lluis, Rice, Charles M., Silverman, Robert H., Zhang, Shen-Ying, Casanova, Jean-Laurent
Publicado 2023

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

por Bastard, Paul, Rosen, Lindsey B., Zhang, Qian, Michailidis, Eleftherios, Hoffmann, Hans-Heinrich, Zhang, Yu, Dorgham, Karim, Philippot, Quentin, Rosain, Jérémie, Béziat, Vivien, Manry, Jérémy, Shaw, Elana, Haljasmägi, Liis, Peterson, Pärt, Lorenzo, Lazaro, Bizien, Lucy, Trouillet-Assant, Sophie, Dobbs, Kerry, de Jesus, Adriana Almeida, Belot, Alexandre, Kallaste, Anne, Catherinot, Emilie, Tandjaoui-Lambiotte, Yacine, Le Pen, Jeremie, Kerner, Gaspard, Bigio, Benedetta, Seeleuthner, Yoann, Yang, Rui, Bolze, Alexandre, Spaan, András N., Delmonte, Ottavia M., Abers, Michael S., Aiuti, Alessandro, Casari, Giorgio, Lampasona, Vito, Piemonti, Lorenzo, Ciceri, Fabio, Bilguvar, Kaya, Lifton, Richard P., Vasse, Marc, Smadja, David M., Migaud, Mélanie, Hadjadj, Jérome, Terrier, Benjamin, Duffy, Darragh, Quintana-Murci, Lluis, van de Beek, Diederik, Roussel, Lucie, Vinh, Donald C., Tangye, Stuart G., Haerynck, Filomeen, Dalmau, David, Martinez-Picado, Javier, Brodin, Petter, Nussenzweig, Michel C., Boisson-Dupuis, Stéphanie, Rodríguez-Gallego, Carlos, Vogt, Guillaume, Mogensen, Trine H., Oler, Andrew J., Gu, Jingwen, Burbelo, Peter D., Cohen, Jeffrey I., Biondi, Andrea, Bettini, Laura Rachele, D'Angio, Mariella, Bonfanti, Paolo, Rossignol, Patrick, Mayaux, Julien, Rieux-Laucat, Frédéric, Husebye, Eystein S., Fusco, Francesca, Ursini, Matilde Valeria, Imberti, Luisa, Sottini, Alessandra, Paghera, Simone, Quiros-Roldan, Eugenia, Rossi, Camillo, Castagnoli, Riccardo, Montagna, Daniela, Licari, Amelia, Marseglia, Gian Luigi, Duval, Xavier, Ghosn, Jade, Tsang, John S., Goldbach-Mansky, Raphaela, Kisand, Kai, Lionakis, Michail S., Puel, Anne, Zhang, Shen-Ying, Holland, Steven M., Gorochov, Guy, Jouanguy, Emmanuelle, Rice, Charles M., Cobat, Aurélie, Notarangelo, Luigi D., Abel, Laurent, Su, Helen C., Casanova, Jean-Laurent
Publicado 2020

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

por Matuozzo, Daniela, Talouarn, Estelle, Marchal, Astrid, Zhang, Peng, Manry, Jeremy, Seeleuthner, Yoann, Zhang, Yu, Bolze, Alexandre, Chaldebas, Matthieu, Milisavljevic, Baptiste, Gervais, Adrian, Bastard, Paul, Asano, Takaki, Bizien, Lucy, Barzaghi, Federica, Abolhassani, Hassan, Abou Tayoun, Ahmad, Aiuti, Alessandro, Alavi Darazam, Ilad, Allende, Luis M., Alonso-Arias, Rebeca, Arias, Andrés Augusto, Aytekin, Gokhan, Bergman, Peter, Bondesan, Simone, Bryceson, Yenan T., Bustos, Ingrid G., Cabrera-Marante, Oscar, Carcel, Sheila, Carrera, Paola, Casari, Giorgio, Chaïbi, Khalil, Colobran, Roger, Condino-Neto, Antonio, Covill, Laura E., Delmonte, Ottavia M., El Zein, Loubna, Flores, Carlos, Gregersen, Peter K., Gut, Marta, Haerynck, Filomeen, Halwani, Rabih, Hancerli, Selda, Hammarström, Lennart, Hatipoğlu, Nevin, Karbuz, Adem, Keles, Sevgi, Kyheng, Christèle, Leon-Lopez, Rafael, Franco, Jose Luis, Mansouri, Davood, Martinez-Picado, Javier, Metin Akcan, Ozge, Migeotte, Isabelle, Morange, Pierre-Emmanuel, Morelle, Guillaume, Martin-Nalda, Andrea, Novelli, Giuseppe, Novelli, Antonio, Ozcelik, Tayfun, Palabiyik, Figen, Pan-Hammarström, Qiang, de Diego, Rebeca Pérez, Planas-Serra, Laura, Pleguezuelo, Daniel E., Prando, Carolina, Pujol, Aurora, Reyes, Luis Felipe, Rivière, Jacques G., Rodriguez-Gallego, Carlos, Rojas, Julian, Rovere-Querini, Patrizia, Schlüter, Agatha, Shahrooei, Mohammad, Sobh, Ali, Soler-Palacin, Pere, Tandjaoui-Lambiotte, Yacine, Tipu, Imran, Tresoldi, Cristina, Troya, Jesus, van de Beek, Diederik, Zatz, Mayana, Zawadzki, Pawel, Al-Muhsen, Saleh Zaid, Alosaimi, Mohammed Faraj, Alsohime, Fahad M., Baris-Feldman, Hagit, Butte, Manish J., Constantinescu, Stefan N., Cooper, Megan A., Dalgard, Clifton L., Fellay, Jacques, Heath, James R., Lau, Yu-Lung, Lifton, Richard P., Maniatis, Tom, Mogensen, Trine H., von Bernuth, Horst, Lermine, Alban, Vidaud, Michel, Boland, Anne, Deleuze, Jean-François, Nussbaum, Robert, Kahn-Kirby, Amanda, Mentre, France, Tubiana, Sarah, Gorochov, Guy, Tubach, Florence, Hausfater, Pierre, Meyts, Isabelle, Zhang, Shen-Ying, Puel, Anne, Notarangelo, Luigi D., Boisson-Dupuis, Stephanie, Su, Helen C., Boisson, Bertrand, Jouanguy, Emmanuelle, Casanova, Jean-Laurent, Zhang, Qian, Abel, Laurent, Cobat, Aurélie
Publicado 2023

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

por Zhang, Qian, Bastard, Paul, Liu, Zhiyong, Le Pen, Jérémie, Moncada-Velez, Marcela, Chen, Jie, Ogishi, Masato, Sabli, Ira K. D., Hodeib, Stephanie, Korol, Cecilia, Rosain, Jérémie, Bilguvar, Kaya, Ye, Junqiang, Bolze, Alexandre, Bigio, Benedetta, Yang, Rui, Arias, Andrés Augusto, Zhou, Qinhua, Zhang, Yu, Onodi, Fanny, Korniotis, Sarantis, Karpf, Léa, Philippot, Quentin, Chbihi, Marwa, Bonnet-Madin, Lucie, Dorgham, Karim, Smith, Nikaïa, Schneider, William M., Razooky, Brandon S., Hoffmann, Hans-Heinrich, Michailidis, Eleftherios, Moens, Leen, Han, Ji Eun, Lorenzo, Lazaro, Bizien, Lucy, Meade, Philip, Neehus, Anna-Lena, Ugurbil, Aileen Camille, Corneau, Aurélien, Kerner, Gaspard, Zhang, Peng, Rapaport, Franck, Seeleuthner, Yoann, Manry, Jeremy, Masson, Cecile, Schmitt, Yohann, Schlüter, Agatha, Le Voyer, Tom, Khan, Taushif, Li, Juan, Fellay, Jacques, Roussel, Lucie, Shahrooei, Mohammad, Alosaimi, Mohammed F., Mansouri, Davood, Al-Saud, Haya, Al-Mulla, Fahd, Almourfi, Feras, Al-Muhsen, Saleh Zaid, Alsohime, Fahad, Al Turki, Saeed, Hasanato, Rana, van de Beek, Diederik, Biondi, Andrea, Bettini, Laura Rachele, D’Angio’, Mariella, Bonfanti, Paolo, Imberti, Luisa, Sottini, Alessandra, Paghera, Simone, Quiros-Roldan, Eugenia, Rossi, Camillo, Oler, Andrew J., Tompkins, Miranda F., Alba, Camille, Vandernoot, Isabelle, Goffard, Jean-Christophe, Smits, Guillaume, Migeotte, Isabelle, Haerynck, Filomeen, Soler-Palacin, Pere, Martin-Nalda, Andrea, Colobran, Roger, Morange, Pierre-Emmanuel, Keles, Sevgi, Çölkesen, Fatma, Ozcelik, Tayfun, Yasar, Kadriye Kart, Senoglu, Sevtap, Karabela, Şemsi Nur, Rodríguez-Gallego, Carlos, Novelli, Giuseppe, Hraiech, Sami, Tandjaoui-Lambiotte, Yacine, Duval, Xavier, Laouénan, Cédric, Snow, Andrew L., Dalgard, Clifton L., Milner, Joshua D., Vinh, Donald C., Mogensen, Trine H., Marr, Nico, Spaan, András N., Boisson, Bertrand, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Puel, Anne, Ciancanelli, Michael J., Meyts, Isabelle, Maniatis, Tom, Soumelis, Vassili, Amara, Ali, Nussenzweig, Michel, García-Sastre, Adolfo, Krammer, Florian, Pujol, Aurora, Duffy, Darragh, Lifton, Richard P., Zhang, Shen-Ying, Gorochov, Guy, Béziat, Vivien, Jouanguy, Emmanuelle, Sancho-Shimizu, Vanessa, Rice, Charles M., Abel, Laurent, Notarangelo, Luigi D., Cobat, Aurélie, Su, Helen C., Casanova, Jean-Laurent
Publicado 2020

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

por 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., El Bakkouri, 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, 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
Publicado 2022