Bastard, Paul; Vazquez, Sara; Liu, Jamin; Laurie, Matthew T.; Wang, Chung Yu; Gervais, Adrian; Le Voyer, Tom; Bizien, Lucy; Zamecnik, Colin; Philippot, Quentin; Rosain, Jeremie; Catherinot, Emilie; Willmore, Andrew; Mitchell, Anthea M.; Bair, Rebecca; Garcon, Pierre; Kenney, Heather; Fekkar, Arnaud; Salagianni, Maria; Poulakou, Garyphallia; Siouti, Eleni; Sahanic, Sabina; Tancevski, Ivan; Weiss, Gunter; Nagl, Laurenz; Manry, Jeremy; Duvlis, Sotirija; Arroyo-Sanchez, Daniel; Paz Artal, Estela; Rubio, Luis; Perani, Cristiano; Bezzi, Michela; Sottini, Alessandra; Quaresima, Virginia; Roussel, Lucie; Vinh, Donald C.; Felipe Reyes, Luis; Garzaro, Margaux; Hatipoglu, Nevin; Boutboul, David; Tandjaoui-Lambiotte, Yacine; Borghesi, Alessandro; Aliberti, Anna; Cassaniti, Irene; Venet, Fabienne; Monneret, Guillaume; Halwani, Rabih; Sharif-Askari, Narjes Saheb; Danielson, Jeffrey; Burrel, Sonia; Morbieu, Caroline; Stepanovskyy, Yurii; Bondarenko, Anastasia; Volokha, Alla; Boyarchuk, Oksana; Gagro, Alenka; Neuville, Mathilde; Neven, Benedicte; Keles, Sevgi; Hernu, Romain; Bal, Antonin; Novelli, Antonio; Novelli, Giuseppe; Saker, Kahina; Ailioaie, Oana; Antoli, Arnau; Jeziorski, Eric; Rocamora-Blanch, Gemma; Teixeira, Carla; Delaunay, Clarisse; Lhuillier, Marine; Le Turnier, Paul; Zhang, Yu; Mahevas, Matthieu; Pan-Hammarstrom, Qiang; Abolhassani, Hassan; Bompoil, Thierry; Dorgham, Karim; Group, French Covid Study; Gorochov, Guy; Laouenan, Cedric; Rodriguez-Gallego, Carlos; Ng, Lisa F. P.; Renia, Laurent; Pujol, Aurora; Belot, Alexandre; Raffi, Francois; Allende, Luis M.; Martinez-Picado, Javier; Ozcelik, Tayfun; Keles, Sevgi; Imberti, Luisa; Notarangelo, Luigi D.; Troya, Jesus; Solanich, Xavier; Zhang, Shen-Ying; Puel, Anne; Wilson, Michael R.; Trouillet-Assants, Sophie; Abe, Laurent; Jouanguy, Emmanuelle; Ye, Chun Jimmie; Cobat, Aurelie; Thompson, Leslie M.; Andreakos, Evangelos; Zhang, Qian; Anderson, Mark S.; Casanova, Jean-Laurent; DeRisi, Joseph L.

Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy

EBIOMEDICINE

IF10.8

2023-10-0110

OAAI

Weinhofer, Isabelle; Rommer, Paulus; Gleiss, Andreas; Ponleitner, Markus; Zierfuss, Bettina; Waidhofer-Soellner, Petra; Fourcade, Stephane; Grabmeier-Pfisterhammer, Katharina; Reinert, Marie-Christine; Goepfert, Jens; Heine, Anne; Yska, Hemmo A. F.; Casasnovas, Carlos; Cantarin, Veronica; Bergner, Caroline G.; Mallack, Eric; Forss-Petter, Sonja; Aubourg, Patrick; Bley, Annette; Engelen, Marc; Eichler, Florian; Lund, Troy C.; Pujol, Aurora; Koehler, Wolfgang; Kuehl, Joern-Sven; Berger, Johannes

RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2023-07-174

OAAI

Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-07-012

OAAI

Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2023-05-1515

OAAI

Towards a substrate reduction therapy for metachromatic leukodystrophy

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-02-010

PRE

Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination

JOURNAL OF EXPERIMENTAL MEDICINE

IF10.6

2022-11-0722

OAAI

Sokal, Aurelien; Bastard, Paul; Chappert, Pascal; Barba-Spaeth, Giovanna; Fourati, Slim; Vanderberghe, Alexis; Lagouge-Roussey, Pauline; Meyts, Isabelle; Gervais, Adrian; Bouvier-Alias, Magali; Azzaoui, Imane; Fernandez, Ignacio; de la Selle, Andrea; Zhang, Qian; Bizien, Lucy; Pellier, Isabelle; Linglart, Agnes; Rothenbuhler, Anya; Marcoux, Estelle; Anxionnat, Raphael; Cheikh, Nathalie; Leger, Juliane; Amador-Borrero, Blanca; Fouyssac, Fanny; Menut, Vanessa; Goffard, Jean-Christophe; Storey, Caroline; Demily, Caroline; Mallebranche, Coralie; Troya, Jesus; Pujol, Aurora; Zins, Marie; Tiberghien, Pierre; Gray, Paul E.; McNaughton, Peter; Sullivan, Anna; Peake, Jane; Levy, Romain; Languille, Laetitia; Rodiguez-Gallego, Carlos; Boisson, Bertrand; Gallien, Sebastien; Neven, Benedicte; Michel, Marc; Godeau, Bertrand; Abel, Laurent; Rey, Felix A.; Weill, Jean-Claude; Reynaud, Claude-Agnes; Tangye, Stuart G.; Casanova, Jean-Laurent; Mahevas, Matthieu

Epigenetic activation of antiviral sensors and effectors of interferon response pathways during SARS-CoV-2 infection

BIOMEDICINE & PHARMACOTHERAPY

IF7.5

2022-09-014

OAAI

Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence

JOURNAL OF MEDICAL GENETICS

IF3.7

2022-08-306

OAAI

Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study

与儿童多系统炎症综合征相关的表观遗传学分析 (mis-c): 一项多中心回顾性研究

ECLINICALMEDICINE

IF10

2022-08-0110

OAAI

Activating cannabinoid receptor 2 preserves axonal health through GSK-3β/NRF2 axis in adrenoleukodystrophy

ACTA NEUROPATHOLOGICA

IF9.3

2022-07-015

PRE

Novel genes and sex differences in COVID-19 severity

新型冠状病毒肺炎严重程度的新基因和性别差异

HUMAN MOLECULAR GENETICS

IF3.2

2022-06-1648

OAAI

Cruz, Raquel; Diz-de Almeida, Silvia; Lopez de Heredia, Miguel; Quintela, Ines; Ceballos, Francisco C.; Lorenzo-Salazar, Guillermo M.; Gonzalez-Montelongo, Rafaela; Gago-Dominguez, Manuela; Sevilla Porras, Marta; Tenorio Castano, Jair Antonio; Nevado, Julian; Maria Aguado, Jose; Aguilar, Carlos; Aguilera-Albesa, Sergio; Almadana, Virginia; Almoguera, Berta; Alvarez, Nuria; Andreu-Bernabeu, Alvaro; Arana-Arri, Eunate; Arango, Celso; Arranz, Maria J.; Artiga, Maria-Jesus; Baptista-Rosas, Raul C.; Barreda-Sanchez, Maria; Belhassen-Garcia, Moncef; Bezerra, Joao F.; Bezerra, Marcos A. C.; Boix-Palop, Lucia; Brion, Maria; Brugada, Ramon; Bustos, Matilde; Calderon, Enrique J.; Carbonell, Cristina; Castano, Luis; Castelao, Jose E.; Conde-Vicente, Rosa; Cordero-Lorenzana, M. Lourdes; Cortes-Sanchez, Jose L.; Corton, Marta; Darnaude, M. Teresa; De Martino-Rodriguez, Alba; del Campo-Perez, Victor; Diaz de Bustamante, Aranzazu; Dominguez-Garrido, Elena; Luchessi, Andre D.; Eiros, Rocio; Estigarribia Sanabria, Gladys Mercedes; Carmen Farinas, Maria; Fernandez-Robelo, Uxia; Fernandez-Rodriguez, Amanda; Fernandez-Villa, Tania; Gil-Fournier, Belen; Gomez-Arrue, Javier; Gonzalez Alvarez, Beatriz; Gonzalez Bernaldo de Quiros, Fernan; Gonzalez-Penas, Javier; Gutierrez-Bautista, Juan F.; Jose Herrero, Maria; Herrero-Gonzalez, Antonio; Jimenez-Sousa, Maria A.; Claudia Lattig, Maria; Liger Borja, Anabel; Lopez-Rodriguez, Rosario; Mancebo, Esther; Martin-Lopez, Caridad; Martin, Vicente; Martinez-Nieto, Oscar; Martinez-Lopez, Iciar; Martinez-Resendez, Michel F.; Martinez-Perez, Angel; Mazzeu, Juliana F.; Merayo Macias, Eleuterio; Minguez, Pablo; Moreno Cuerda, Victor; Silbiger, Vivian N.; Oliveira, Silviene F.; Ortega-Paino, Eva; Parellada, Mara; Paz-Artal, Estela; Santos, Ney P. C.; Perez-Matute, Patricia; Perez, Patricia; Perez-Tomas, M. Elena; Perucho, Teresa; Pinsach-Abuin, Mel Lina; Pompa-Mera, Ericka N.; Porras-Hurtado, Gloria L.; Pujol, Aurora; Ramiro Leon, Soraya; Resino, Salvador; Fernandes, Marianne R.; Rodriguez-Ruiz, Emilio; Rodriguez-Artalejo, Fernando; Rodriguez-Garcia, Jose A.; Ruiz Cabello, Francisco; Ruiz-Hornillos, Javier; Ryan, Pablo; Soria, Jose Manuel; Souto, Juan Carlos; Tamayo, Eduardo; Tamayo-Velasco, Alvaro; Carlos Taracido-Fernandez, Juan; Teper, Alejandro; Torres-Tobar, Lilian; Urioste, Miguel; Valencia-Ramos, Juan; Yanez, Zuleima; Zarate, Ruth; Nakanishi, Tomoko; Pigazzini, Sara; Degenhardt, Frauke; Butler-Laporte, Guillaume; Maya-Miles, Douglas; Bujanda, Luis; Bouysran, Youssef; Palom, Adriana; Ellinghaus, David; Martinez-Bueno, Manuel; Rolker, Selina; Amitrano, Sara; Roade, Luisa; Fava, Francesca; Spinner, Christoph D.; Prati, Daniele; Bernardo, David; Garcia, Federico; Darcis, Gilles; Fernandez-Cadenas, Israel; Holter, Jan Cato; Banales, Jesus M.; Frithiof, Robert; Duga, Stefano; Asselta, Rosanna; Pereira, Alexandre C.; Romero-Gomez, Manuel; Nafria-Jimenez, Beatriz; Hov, Johannes R.; Migeotte, Isabelle; Renieri, Alessandra; Planas, Anna M.; Ludwig, Kerstin U.; Buti, Maria; Rahmouni, Souad; Alarcon-Riquelme, Marta E.; Schulte, Eva C.; Franke, Andre; Karlsen, Tom H.; Valenti, Luca; Zeberg, Hugo; Richards, Brent; Ganna, Andrea; Boada, Merce; de Rojas, Itziar; Ruiz, Agustin; Sanchez-Juan, Pascual; Miguel Real, Luis; Guillen-Navarro, Encarna; Ayuso, Carmen; Gonzalez-Neira, Anna; Riancho, Jose A.; Rojas-Martinez, Augusto; Flores, Carlos; Lapunzina, Pablo; Carracedo, Angel

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

新型冠状病毒肺炎死亡的风险更大，并且与I型IFN自身抗体的年龄有关

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2022-05-16119

Manry, Jeremy; Bastard, Paul; Gervais, Adrian; Le Voyer, Tom; Rosain, Jeremie; Philippot, Quentin; Michailidis, Eleftherios; Hoffmann, Hans-Heinrich; Eto, Shohei; Garcia-Prat, Marina; Bizien, Lucy; Parra-Martinez, Alba; Yang, Rui; Haljasmagi, Liis; Migaud, Melanie; Sarekannu, 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, Jesus; Trouillet-Assant, Sophie; Belot, Alexandre; Saker, Kahina; Garcon, Pierre; Riviere, Jacques G.; Lagier, Jean-Christophe; Gentile, Stephanie; 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, Jose Luis; Anaya, Juan-Manuel; Sole-Violan, Jordi; Imberti, Luisa; Biondi, Andrea; Bonfanti, Paolo; Castagnoli, Riccardo; Delmonte, Ottavia M.; Zhang, Yu; Snow, Andrew L.; Holland, Steven M.; Biggs, Catherine M.; Moncada-Velez, Marcela; Arias, Andres 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, Stephane; Pan-Hammarstrom, Qiang; Hammarstrom, 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, Angelique; 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; Bourkeh, Nollaig M.; Halwan, Rabih; Sharif-Askar, Fatemeh Saheb; Dorgham, Karim; Sallette, Jerome; Sedkaoui, Souad Mehlal; AlKhater, Suzan; Rigo-Bonnin, Raul; Morandeira, Francisco; Roussel, Lucie; Vinh, Donald C.; Erikstrup, Christian; Condino-Neto, Antonio; Prando, Carolina; Bondarenko, Anastasiia; Spaan, Andras N.; Gilardin, Laurent; Fellay, Jacques; Lyonnet, Stanislas; Bilguvar, Kaya; Lifton, Richard P.; Mane, Shrikant; Anderson, Mark S.; Boisson, Bertrand; Beziat, Vivien; Zhang, Shen-Ying; Andreakos, Evangelos; Hermine, Olivier; Pujol, Aurora; Peterson, Part; Mogensen, Trine H.; Rowen, Lee; Mond, James; Debette, Stephanie; 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; Rodriguez-Gallego, Carlos; D Notarangelo, Luigi; Su, Helen C.; Kisand, Kai; Okada, Satoshi; Puel, Anne; Jouanguy, Emmanuelle; Rice, Charles M.; Tiberghien, Pierre; Zhang, Qian; Casanova, Jean-Laurent; Abel, Laurent; Cobat, Aurelie

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

JOURNAL OF MOLECULAR DIAGNOSTICS

IF3.4

2022-05-0112

OAAI

Aurora Pujol

个人简介

教育背景

工作经历

荣誉奖项

研究方向