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Showing 12 of 12 Publications

2020

  • Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

    Jin SC, Lewis SA, Bakhtiari S, Zeng X, Sierant MC, Shetty S, Nordlie SM, Elie A, Corbett MA, Norton BY, van Eyk CL, Haider S, Guida BS, Magee H, Liu J, Pastore S, Vincent JB, Brunstrom-Hernandez J, Papavasileiou A, Fahey MC, Berry JG, Harper K, Zhou C, Zhang J, Li B, Zhao H, Heim J, Webber DL, Frank MSB, Xia L, Xu Y, Zhu D, Zhang B, Sheth AH, Knight JR, Castaldi C, Tikhonova IR, López-Giráldez F, Keren B, Whalen S, Buratti J, Doummar D, Cho M, Retterer K, Millan F, Wang Y, Waugh JL, Rodan L, Cohen JS, Fatemi A, Lin AE, Phillips JP, Feyma T, MacLennan SC, Vaughan S, Crompton KE, Reid SM, Reddihough DS, Shang Q, Gao C, Novak I, Badawi N, Wilson YA, McIntyre SJ, Mane SM, Wang X, Amor DJ, Zarnescu DC, Lu Q, Xing Q, Zhu C, Bilguvar K, Padilla-Lopez S, Lifton RP, Gecz J, MacLennan AH, Kruer MC. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nature Genetics 2020, 52: 1046-1056. PMID: 32989326, PMCID: PMC9148538, DOI: 10.1038/s41588-020-0695-1.
    Peer-Reviewed Original Research

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

    Zhang Q, Bastard P, Liu Z, Le Pen J, Moncada-Velez M, Chen J, Ogishi M, Sabli IKD, Hodeib S, Korol C, Rosain J, Bilguvar K, Ye J, Bolze A, Bigio B, Yang R, Arias AA, Zhou Q, Zhang Y, Onodi F, Korniotis S, Karpf L, Philippot Q, Chbihi M, Bonnet-Madin L, Dorgham K, Smith N, Schneider WM, Razooky BS, Hoffmann HH, Michailidis E, Moens L, Han JE, Lorenzo L, Bizien L, Meade P, Neehus AL, Ugurbil AC, Corneau A, Kerner G, Zhang P, Rapaport F, Seeleuthner Y, Manry J, Masson C, Schmitt Y, Schlüter A, Le Voyer T, Khan T, Li J, Fellay J, Roussel L, Shahrooei M, Alosaimi MF, Mansouri D, Al-Saud H, Al-Mulla F, Almourfi F, Al-Muhsen SZ, Alsohime F, Al Turki S, Hasanato R, van de Beek D, Biondi A, Bettini LR, D’Angio’ M, Bonfanti P, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Oler AJ, Tompkins MF, Alba C, Vandernoot I, Goffard JC, Smits G, Migeotte I, Haerynck F, Soler-Palacin P, Martin-Nalda A, Colobran R, Morange PE, Keles S, Çölkesen F, Ozcelik T, Yasar KK, Senoglu S, Karabela ŞN, Rodríguez-Gallego C, Novelli G, Hraiech S, Tandjaoui-Lambiotte Y, Duval X, Laouénan C, Snow A, Dalgard C, Milner J, Vinh D, Mogensen T, Marr N, Spaan A, Boisson B, Boisson-Dupuis S, Bustamante J, Puel A, Ciancanelli M, Meyts I, Maniatis T, Soumelis V, Amara A, Nussenzweig M, García-Sastre A, Krammer F, Pujol A, Duffy D, Lifton R, Zhang S, Gorochov G, Béziat V, Jouanguy E, Sancho-Shimizu V, Rice C, Abel L, Notarangelo L, Cobat A, Su H, Casanova J, Foti G, Bellani G, Citerio G, Contro E, Pesci A, Valsecchi M, Cazzaniga M, Abad J, Aguilera-Albesa S, Akcan O, Darazam I, Aldave J, Ramos M, Nadji S, Alkan G, Allardet-Servent J, Allende L, Alsina L, Alyanakian M, Amador-Borrero B, Amoura Z, Antolí A, Arslan S, Assant S, Auguet T, Azot A, Bajolle F, Baldolli A, Ballester M, Feldman H, Barrou B, Beurton A, Bilbao A, Blanchard-Rohner G, Blanco I, Blandinières A, Blazquez-Gamero D, Bloomfield M, Bolivar-Prados M, Borie R, Bosteels C, Bousfiha A, Bouvattier C, Boyarchuk O, Bueno M, Bustamante J, Cáceres Agra J, Calimli S, Capra R, Carrabba M, Casasnovas C, Caseris M, Castelle M, Castelli F, de Vera M, Castro M, Catherinot E, Chalumeau M, Charbit B, Cheng M, Clavé P, Clotet B, Codina A, Colkesen F, Çölkesen F, Colobran R, Comarmond C, Dalmau D, Darley D, Dauby N, Dauger S, de Pontual L, Dehban A, Delplancq G, Demoule A, Diehl J, Dobbelaere S, Durand S, Eldars W, Elgamal M, Elnagdy M, Emiroglu M, Erdeniz E, Aytekin S, Euvrard R, Evcen R, Fabio G, Faivre L, Falck A, Fartoukh M, Faure M, Arquero M, Flores C, Francois B, Fumadó V, Fusco F, Solis B, Gaussem P, Gil-Herrera J, Gilardin L, Alarcon M, Girona-Alarcón M, Goffard J, Gok F, González-Montelongo R, Guerder A, Gul Y, Guner S, Gut M, Hadjadj J, Haerynck F, Halwani R, Hammarström L, Hatipoglu N, Hernandez-Brito E, Heijmans C, Holanda-Peña M, Horcajada J, Hoste L, Hoste E, Hraiech S, Humbert L, Iglesias A, Íñigo-Campos A, Jamme M, Arranz M, Jordan I, Jorens P, Kanat F, Kapakli H, Kara I, Karbuz A, Yasar K, Keles S, Demirkol Y, Klocperk A, Król Z, Kuentz P, Kwan Y, Lagier J, Lambrecht B, Lau Y, Le Bourgeois F, Leo Y, Lopez R, Leung D, Levin M, Levy M, Lévy R, Li Z, Linglart A, Loeys B, Lorenzo-Salazar J, Louapre C, Lubetzki C, Luyt C, Lye D, Mansouri D, Marjani M, Pereira J, Martin A, Pueyo D, Martinez-Picado J, Marzana I, Mathian A, Matos L, Matthews G, Mayaux J, Mège J, Melki I, Meritet J, Metin O, Meyts I, Mezidi M, Migeotte I, Millereux M, Mirault T, Mircher C, Mirsaeidi M, Melián A, Martinez A, Morange P, Mordacq C, Morelle G, Mouly S, Muñoz-Barrera A, Naesens L, Nafati C, Neves J, Ng L, Medina Y, Cuadros E, Ocejo-Vinyals J, Orbak Z, Oualha M, Özçelik T, Pan-Hammarström Q, Parizot C, Pascreau T, Paz-Artal E, Pellegrini S, de Diego R, Philippe A, Philippot Q, Planas-Serra L, Ploin D, Poissy J, Poncelet G, Pouletty M, Quentric P, Raoult D, Rebillat A, Reisli I, Ricart P, Richard J, Rivet N, Rivière J, Blanch G, Rodrigo C, Rodriguez-Gallego C, Rodríguez-Palmero A, Romero C, Rothenbuhler A, Rozenberg F, Ruiz del Prado M, Riera J, Sanchez O, Sánchez-Ramón S, Schluter A, Schmidt M, Schweitzer C, Scolari F, Sediva A, Seijo L, Sene D, Senoglu S, Seppänen M, Ilovich A, Shahrooei M, Slabbynck H, Smadja D, Sobh A, Moreno X, Solé-Violán J, Soler C, Soler-Palacín P, Stepanovskiy Y, Stoclin A, Taccone F, Tandjaoui-Lambiotte Y, Taupin J, Tavernier S, Terrier B, Thumerelle C, Tomasoni G, Toubiana J, Alvarez J, Trouillet-Assant S, Troya J, Tucci A, Ursini M, Uzunhan Y, Vabres P, Valencia-Ramos J, Van Braeckel E, Van de Velde S, Van Den Rym A, Van Praet J, Vandernoot I, Vatansev H, Vélez-Santamaria V, Viel S, Vilain C, Vilaire M, Vincent A, Voiriot G, Vuotto F, Yosunkaya A, Young B, Yucel F, Zannad F, Zatz M, Belot A, Bole-Feysot C, Lyonnet S, Masson C, Nitschke P, Pouliet A, Schmitt Y, Tores F, Zarhrate M, Abel L, Andrejak C, Angoulvant F, Bachelet D, Basmaci R, Behillil S, Beluze M, Benkerrou D, Bhavsar K, Bompart F, Bouadma L, Bouscambert M, Caralp M, Cervantes-Gonzalez M, Chair A, Coelho A, Couffignal C, Couffin-Cadiergues S, D’Ortenzio E, Da Silveira C, Debray M, Deplanque D, Descamps D, Desvallées M, Diallo A, Diouf A, Dorival C, Dubos F, Duval X, Eloy P, Enouf V, Esperou H, Esposito-Farese M, Etienne M, Ettalhaoui N, Gault N, Gaymard A, Ghosn J, Gigante T, Gorenne I, Guedj J, Hoctin A, Hoffmann I, Jaafoura S, Kafif O, Kaguelidou F, Kali S, Khalil A, Khan C, Laouénan C, Laribi S, Le M, Le Hingrat Q, Le Mestre S, Le Nagard H, Lescure F, Lévy Y, Levy-Marchal C, Lina B, Lingas G, Lucet J, Malvy D, Mambert M, Mentré F, Mercier N, Meziane A, Mouquet H, Mullaert J, Neant N, Noret M, Pages J, Papadopoulos A, Paul C, Peiffer-Smadja N, Petrov-Sanchez V, Peytavin G, Picone O, Puéchal O, Rosa-Calatrava M, Rossignol B, Rossignol P, Roy C, Schneider M, Semaille C, Mohammed N, Tagherset L, Tardivon C, Tellier M, Téoulé F, Terrier O, Timsit J, Trioux T, Tual C, Tubiana S, van der Werf S, Vanel N, Veislinger A, Visseaux B, Wiedemann A, Yazdanpanah Y, Alavoine L, Amat K, Behillil S, Bielicki J, Bruijning P, Burdet C, Caumes E, Charpentier C, Coignard B, Costa Y, Couffin-Cadiergues S, Damond F, Dechanet A, Delmas C, Descamps D, Duval X, Ecobichon J, Enouf V, Espérou H, Frezouls W, Houhou N, Ilic-Habensus E, Kafif O, Kikoine J, Le Hingrat Q, Lebeaux D, Leclercq A, Lehacaut J, Letrou S, Lina B, Lucet J, Malvy D, Manchon P, Mandic M, Meghadecha M, Motiejunaite J, Nouroudine M, Piquard V, Postolache A, Quintin C, Rexach J, Roufai L, Terzian Z, Thy M, Tubiana S, van der Werf S, Vignali V, Visseaux B, Yazdanpanah Y, van Agtmael M, Algera A, van Baarle F, Bax D, Beudel M, Bogaard H, Bomers M, Bos L, Botta M, de Brabander J, de Bree G, Brouwer M, de Bruin S, Bugiani M, Bulle E, Chouchane O, Cloherty A, Elbers P, Fleuren L, Geerlings S, Geerts B, Geijtenbeek T, Girbes A, Goorhuis B, Grobusch M, Hafkamp F, Hagens L, Hamann J, Harris V, Hemke R, Hermans S, Heunks L, Hollmann M, Horn J, Hovius J, de Jong M, Koning R, van Mourik N, Nellen J, Paulus F, Peters E, van der Poll T, Preckel B, Prins J, Raasveld J, Reijnders T, Schinkel M, Schultz M, Schuurman A, Sigaloff K, Smit M, Stijnis C, Stilma W, Teunissen C, Thoral P, Tsonas A, van der Valk M, Veelo D, Vlaar A, de Vries H, van Vugt M, Wiersinga W, Wouters D, Zwinderman A, van de Beek D, Abel L, Aiuti A, Al Muhsen S, Al-Mulla F, Anderson M, Arias A, Feldman H, Bogunovic D, Bolze A, Bondarenko A, Bousfiha A, Brodin P, Bryceson Y, Bustamante C, Butte M, Casari G, Chakravorty S, Christodoulou J, Cirulli E, Condino-Neto A, Cooper M, Dalgard C, David A, DeRisi J, Desai M, Drolet B, Espinosa S, Fellay J, Flores C, Franco J, Gregersen P, Haerynck F, Hagin D, Halwani R, Heath J, Henrickson S, Hsieh E, Imai K, Itan Y, Karamitros T, Kisand K, Ku C, Lau Y, Ling Y, Lucas C, Maniatis T, Mansouri D, Marodi L, Meyts I, Milner J, Mironska K, Mogensen T, Morio T, Ng L, Notarangelo L, Novelli A, Novelli G, O’Farrelly C, Okada S, Ozcelik T, de Diego R, Planas A, Prando C, Pujol A, Quintana-Murci L, Renia L, Renieri A, Rodríguez-Gallego C, Sancho-Shimizu V, Sankaran V, Barrett K, Shahrooei M, Snow A, Soler-Palacín P, Spaan A, Tangye S, Turvey S, Uddin F, Uddin M, van de Beek D, Vazquez S, Vinh D, von Bernuth H, Washington N, Zawadzki P, Su H, Casanova J, Jing H, Tung W, Luthers C, Bauman B, Shafer S, Zheng L, Zhang Z, Kubo S, Chauvin S, Meguro K, Shaw E, Lenardo M, Lack J, Karlins E, Hupalo D, Rosenberger J, Sukumar G, Wilkerson M, Zhang X. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science 2020, 370: eabd4570. PMID: 32972995, PMCID: PMC7857407, DOI: 10.1126/science.abd4570.
    Peer-Reviewed Original Research

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