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Showing 1 - 20 of 35 Publications

2021

  • Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

    Calame DG, Bakhtiari S, Logan R, Coban-Akdemir Z, Du H, Mitani T, Fatih JM, Hunter JV, Herman I, Pehlivan D, Jhangiani SN, Person R, Schnur RE, Jin SC, Bilguvar K, Posey JE, Koh S, Firouzabadi SG, Alehabib E, Tafakhori A, Esmkhani S, Gibbs RA, Noureldeen MM, Zaki MS, Marafi D, Darvish H, Kruer MC, Lupski JR. Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy. Genetics In Medicine 2021, 23: 2455-2460. PMID: 34385670, PMCID: PMC8633036, DOI: 10.1038/s41436-021-01291-x.
    Peer-Reviewed Original Research

  • X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

    Asano T, Boisson B, Onodi F, Matuozzo D, Moncada-Velez M, Renkilaraj M, Zhang P, Meertens L, Bolze A, Materna M, Korniotis S, Gervais A, Talouarn E, Bigio B, Seeleuthner Y, Bilguvar K, Zhang Y, Neehus AL, Ogishi M, Pelham SJ, Le Voyer T, Rosain J, Philippot Q, Soler-Palacín P, Colobran R, Martin-Nalda A, Rivière JG, Tandjaoui-Lambiotte Y, Chaïbi K, Shahrooei M, Darazam IA, Olyaei NA, Mansouri D, Hatipoğlu N, Palabiyik F, Ozcelik T, Novelli G, Novelli A, Casari G, Aiuti A, Carrera P, Bondesan S, Barzaghi F, Rovere-Querini P, Tresoldi C, Franco JL, Rojas J, Reyes LF, Bustos IG, Arias AA, Morelle G, Christèle K, Troya J, Planas-Serra L, Schlüter A, Gut M, Pujol A, Allende LM, Rodriguez-Gallego C, Flores C, Cabrera-Marante O, Pleguezuelo DE, de Diego R, Keles S, Aytekin G, Akcan O, Bryceson YT, Bergman P, Brodin P, Smole D, Smith CIE, Norlin AC, Campbell TM, Covill LE, Hammarström L, Pan-Hammarström Q, Abolhassani H, Mane S, Marr N, Ata M, Al Ali F, Khan T, Spaan AN, Dalgard CL, Bonfanti P, Biondi A, Tubiana S, Burdet C, Nussbaum R, Kahn-Kirby A, Snow AL, Bustamante J, Puel A, Boisson-Dupuis S, Zhang S, Béziat V, Lifton R, Bastard P, Notarangelo L, Abel L, Su H, Jouanguy E, Amara A, Soumelis V, Cobat A, Zhang Q, Casanova J, Abel L, Aiuti A, Al-Muhsen S, Al-Mulla F, Anderson M, Andreakos E, Arias A, Feldman H, Belot A, Biggs C, Bogunovic D, Bolze A, Bondarenko A, Bousfiha A, Brodin P, Bryceson Y, Bustamante C, Butte M, Casari G, Chakravorty S, Christodoulou J, Condino-Neto A, Constantinescu S, Cooper M, Dalgard C, Desai M, Drolet B, Baghdadi J, Espinosa-Padilla S, Fellay J, Flores C, Franco J, Froidure A, Gregersen P, Haerynck F, Hagin D, Halwani R, Hammarström L, Heath J, Henrickson S, Hsieh E, Husebye E, Imai K, Itan Y, Jarvis E, Karamitros T, Kisand K, Ku C, Lau Y, Ling Y, Lucas C, Maniatis T, Mansouri D, Maródi 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, Pan-Hammarström Q, de Diego R, Planas A, Prando C, Pujol A, Quintana-Murci L, Renia L, Resnick I, Rodríguez-Gallego C, Sancho-Shimizu V, Sediva A, Seppänen M, Shahrooei M, Shcherbina A, Slaby O, Snow A, Soler-Palacín P, Spaan A, Tancevski I, Tangye S, Tayoun A, Ramaswamy S, Turvey S, Uddin K, Uddin M, van de Beek D, Vinh D, von Bernuth H, Zatz M, Zawadzki P, Su H, Casanova J, Foti G, Bellani G, Citerio G, Contro E, Pesci A, Valsecchi M, Cazzaniga M, Abad J, Accordino G, Achille C, Aguilera-Albesa S, Aguiló-Cucurull A, Aiuti A, Özkan E, Darazam I, Albisures J, Aldave J, Ramos M, Khan T, Aliberti A, Nadji S, Alkan G, AlKhater S, Allardet-Servent J, Allende L, Alonso-Arias R, Alshahrani M, Alsina L, Alyanakian M, Borrero B, Amoura Z, Antolí A, Arrestier R, Aubart M, Auguet T, Avramenko I, Aytekin G, Azot A, Bahram S, Bajolle F, Baldanti F, Baldolli A, Ballester M, Feldman H, Barrou B, Barzagh F, Basso S, Bayhan G, Belot A, Bezrodnik L, Bilbao A, Blanchard-Rohner G, Blanco I, Blandinières A, Blázquez-Gamero D, Bleibtreu A, Bloomfield M, Bolivar-Prados M, Bondarenko A, Borghesi A, Borie R, Botdhlo-Nevers E, Bousfiha A, Bousquet A, Boutolleau D, Bouvattier C, Boyarchuk O, Bravais J, Briones M, Brunner M, Bruno R, Bueno M, Bukhari H, Bustamante J, Agra J, Capra R, Carapito R, Carrabba M, Casari G, Casasnovas C, Caseris M, Cassaniti I, Castelle M, Castelli F, de Vera M, Castro M, Catherinot E, Celik J, Ceschi A, Chalumeau M, Charbit B, Cheng M, Clavé P, Clotet B, Codina A, Cohen Y, Colobran R, Comarmond C, Combes A, Comoli P, Corsico A, Coşkuner T, Cvetkovski A, Cyrus C, Dalmau D, Danion F, Darley D, Das V, Dauby N, Dauger S, De Munter P, de Pontual L, Dehban A, Delplancq G, Demoule A, Desguerre I, Di Sabatino A, Diehl J, Dobbelaere S, Domínguez-Garrido E, Dubost C, Ekwall O, Bozdemir Ş, Elnagdy M, Emiroglu M, Endo A, Erdeniz E, Aytekin S, Lasa M, Euvrard R, Fabio G, Faivre L, Falck A, Fartoukh M, Faure M, Arquero M, Ferrer R, Ferreres J, Flores C, Francois B, Fumadó V, Fung K, Fusco F, Gagro A, Solis B, Gaussem P, Gayretli Z, Gil-Herrera J, Gilardin L, Gatineau A, Girona-Alarcón M, Godínez K, Goffard J, Gonzales N, Gonzalez-Granado L, González-Montelongo R, Guerder A, Gülhan B, Gumucio V, Hanitsch L, Gunst J, Gut M, Hadjadj J, Haerynck F, Halwani R, Hammarström L, Hancerli S, Hariyan T, Hatipoglu N, Heppekcan D, Hernandez-Brito E, Ho P, Holanda-Peña M, Horcajada J, Hraiech S, Humbert L, Hung I, Iglesias A, Íñigo-Campos A, Jamme M, Arranz M, Jimeno M, Jordan I, Yüksek S, Kara Y, Karahan A, Karbuz A, Yasar K, Kasapcopur O, Kashimada K, Keles S, Demirkol Y, Kido Y, Kizil C, Kılıç A, Klocperk A, Koutsoukou A, Król Z, Ksouri H, Kuentz P, Kwan A, Kwan Y, Kwok J, Lagier J, Lam D, Lampropoulou V, Lanternier F, LAU Y, Le Bourgeois F, Leo Y, Lopez R, Leung D, Levin M, Levy M, Lévy R, Li Z, Lilleri D, Lima E, Linglart A, López-Collazo E, Lorenzo-Salazar J, Louapre C, Lubetzki C, Lung K, Luyt C, Lye D, Magnone C, Mansouri D, Marchioni E, Marioli C, Marjani M, Marques L, Pereira J, Martín-Nalda A, Pueyo D, Martinez-Picado J, Marzana I, Mata-Martínez C, Mathian A, Matos L, Matthews G, Mayaux J, McLaughlin-Garcia R, Meersseman P, Mège J, Mekontso-Dessap A, Melki I, Meloni F, Meritet J, Merlani P, Akcan Ö, Meyts I, Mezidi M, Migeotte I, Millereux M, Million M, Mirault T, Mircher C, Mirsaeidi M, Mizoguchi Y, Modi B, Mojoli F, Moncomble E, Melián A, Martinez A, Morandeira F, Morange P, Mordacq C, Morelle G, Mouly S, Muñoz-Barrera A, Nafati C, Nagashima S, Nakagama Y, Neven B, Neves J, Ng L, Ng Y, Nielly H, Medina Y, Cuadros E, Ocejo-Vinyals J, Okamoto K, Oualha M, Ouedrani A, Özçelik T, Ozkaya-Parlakay A, Pagani M, Pan-Hammarström Q, Papadaki M, Parizot C, Parola P, Pascreau T, Paul S, Paz-Artal E, Pedraza S, Pellecer N, Pellegrini S, de Diego R, Pérez-Fernández X, Philippe A, Philippot Q, Picod A, de Chambrun M, Piralla A, Planas-Serra L, Ploin D, Poissy J, Poncelet G, Poulakou G, Pouletty M, Pourshahnazari P, Qiu-Chen J, Quentric P, Rambaud T, Raoult D, Raoult V, Rebillat A, Redin C, Resmini L, Ricart P, Richard J, Rigo-Bonnin R, Rivet N, Rivière J, Rocamora-Blanch G, Rodero M, Rodrigo C, Rodriguez L, Rodriguez-Gallego C, Rodriguez-Palmero A, Romero C, Rothenbuhler A, Roux D, Rovina N, Rozenberg F, Ruch Y, Ruiz M, del Prado M, Ruiz-Rodriguez J, Sabater-Riera J, Saks K, Salagianni M, Sanchez O, Sánchez-Montalvá A, Sánchez-Ramón S, Schidlowski L, Schluter A, Schmidt J, Schmidt M, Schuetz C, Schweitzer C, Scolari F, Sediva A, Seijo L, Seminario A, Sene D, Seng P, Senoglu S, Seppänen M, Llovich A, Shahrooei M, Shcherbina A, Siguret V, Siouti E, Smadja D, Smith N, Sobh A, Solanich X, Solé-Violán J, Soler C, Soler-Palacín P, Sözeri B, Stella G, Stepanovskiy Y, Stoclin A, Taccone F, Tandjaoui-Lambiotte Y, Taupin J, Tavernier S, Tello L, Terrier B, Thiery G, Thorball C, Thorn K, Thumerelle C, Tipu I, Tolstrup M, Tomasoni G, Toubiana J, Alvarez J, Triantafyllia V, Trouillet-Assant S, Troya J, Tsang O, Tserel L, Tso E, Tucci A, Öz Ş, Ursini M, Utsumi T, Uzunhan Y, Vabres P, Valencia-Ramos J, Van Den Rym A, Vandernoot I, Velez-Santamaria V, Veliz S, Vidigal M, Viel S, Vilain C, Vilaire-Meunier M, Villar-García J, Vincent A, Vogt G, Voiriot G, Volokha A, Vuotto F, Wauters E, Wauters J, Wu A, Wu T, Yahşi A, Yesilbas O, Yildiz M, Young B, Yükselmiş U, Zatz M, Zecca M, Zuccaro V, Jens V, Lambrecht B, Eva V, Cédric B, Levi H, Eric H, Bauters F, De Clercq J, Cathérine H, Hans S, Leslie N, Florkin B, Boulanger C, Vanderlinden D, Annereau J, Briseño-Roa L, Gribouval O, Pelet A, Abel L, Andrejak C, Angoulvant F, Bachelet D, Bartoli M, Basmaci R, Behilill S, Beluze M, Benkerrou D, Bhavsar K, Bouadma L, Bouchez S, Bouscambert M, Cervantes-Gonzalez M, Chair A, Chirouze C, Coelho A, Couffignal C, Couffin-Cadiergues S, d’Ortenzio E, Debray M, Deconinck L, Deplanque D, Descamps D, Desvallée M, Diallo A, Diouf A, Dorival C, Dubos F, Duval X, Elharrar B, Eloy P, Enouf V, Esperou H, Esposito-Farese M, Etienne M, Devouge E, Gault N, Gaymard A, Ghosn J, Gigante T, Gilg M, Guedj J, Hoctin A, Hoffmann I, Houas I, Hulot J, 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, Letrou S, Levy Y, Lina B, Lingas G, Lucet J, Malvy D, Mambert M, Mentré F, Meziane A, Mouquet H, Mullaert J, Neant N, Nguyen D, Noret M, Nseir S, Papadopoulos A, Paul C, Peiffer-Smadja N, Perpoint T, Petrov-Sanchez V, Peytavin G, Pham H, Picone O, Piquard V, Puéchal O, Rabaud C, Rosa-Calatrava M, Rossignol B, Rossignol P, Roy C, Schneider M, Su R, Tardivon C, Tellier M, Téoulé F, Terrier O, Timsit J, Tual C, Tubiana S, Van Der Werf S, Vanel N, Veislinger A, Visseaux B, Wiedemann A, Yazdanpanah Y, Alavoine L, Behillil S, Burdet C, Charpentier C, Dechanet A, Descamps D, Duval X, Ecobichon J, Enouf V, Frezouls W, Houhou N, Kafif O, Lehacaut J, Letrou S, Lina B, Lucet J, Manchon P, Nouroudine M, Piquard V, Quintin C, Thy M, Tubiana S, van der Werf S, Vignali V, Visseaux B, Yazdanpanah Y, Chahine A, Waucquier N, Migaud M, Deplanque D, Djossou F, Mergeay-Fabre M, Lucarelli A, Demar M, Bruneau L, Gérardin P, Maillot A, Payet C, Laviolle B, Laine F, Paris C, Desille-Dugast M, Fouchard J, Malvy D, Nguyen D, Pistone T, Perreau P, Gissot V, Le Goas C, Montagne S, Richard L, Chirouze C, Bouiller K, Desmarets M, Meunier A, Lefévre B, Jeulin H, Legrand K, Lomazzi S, Tardy B, Gagneux-Brunon A, Bertholon F, Botelho-Nevers E, Kouakam C, Leturque N, Roufai L, Amat K, Couffin-Cadiergues S, Espérou H, Hendou S, van Agtmael M, Algera A, Appelman B, van Baarle F, Bax D, Beudel M, Bogaard H, Bomers M, Bonta P, Bos L, Botta M, de Brabander J, de Bree G, de Bruin S, Buis D, Bugiani M, Bulle E, Chouchane O, Cloherty A, Dijkstra M, Dongelmans D, Dujardin R, Elbers P, Fleuren L, Geerlings S, 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, Lim E, van Mourik N, Nellen J, Nossent E, Paulus F, Peters E, Pina-Fuentes D, van der Poll T, Preckel B, Prins J, Raasveld J, Reijnders T, de Rotte M, Schinkel M, Schultz M, Schrauwen F, Schuurmans A, Schuurmans J, Sigaloff K, Slim M, Smeele P, Smit M, Stijnis C, Stilma W, Teunissen C, Thoral P, Tsonas A, Tuinman P, van der Valk M, Veelo D, Volleman C, de Vries H, Vught L, van Vugt M, Wouters D, Zwinderman A, Brouwer M, Wiersinga W, Vlaar A, van de Beek D, Tompkins M, Alba C, Snow A, Hupalo D, Rosenberger J, Sukumar G, Wilkerson M, Zhang X, Lack J, Oler A, Dobbs K, Delmonte O, Danielson J, Biondi A, Bettini L, D’Angio M, Beretta I, Imberti L, Sottini A, Quaresima V, Quiros-Roldan E, Rossi C. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19. Science Immunology 2021, 6: eabl4348. PMID: 34413140, PMCID: PMC8532080, DOI: 10.1126/sciimmunol.abl4348.
    Peer-Reviewed Original Research

  • Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

    Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta A, Wood NW, Mau-Them F, Haack T, Consortium P, 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, Grand K, Graham J, Lewis R, Millan F, Duman Ö, Dündar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard J, Chrast R, Auer-Grumbach M, Alkuraya F, Shamseldin H, Al Tala S, Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer M, Kamsteeg E, Takiyama Y, Züchner S, Baets J, Synofzik M, Schüle R, Horvath R, Houlden H, Bartesaghi L, Lee H, Ampatzis K, Pierson T, Senderek J. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain 2021, 144: 1422-1434. PMID: 33970200, PMCID: PMC8219359, DOI: 10.1093/brain/awab041.
    Peer-Reviewed Original Research

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