Not logged inA deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion
Ochoa, Sebastian; Hsu, Amy P.; Oler, Andrew J.; Kumar, Dhaneshwar; Chauss, Daniel; van Hamburg, Jan Piet; van Laar, Gustaaf G.; Oikonomou, Vasileios; Ganesan, Sundar; Ferre, Elise M. N.; Schmitt, Monica M.; Dimaggio, Tom; Barber, Princess; Constantine, Gregory M.; Rosen, Lindsey B.; Auwaerter, Paul G.; Gandhi, Bhumika; Miller, Jennifer L.; Eisenberg, Rachel; Rubinstein, Arye; Schussler, Edith; Balliu, Erjola; Shashi, Vandana; Neth, Olaf; Olbrich, Peter; Le, Kim My; Mamia, Nanni; Laakso, Saila; Nevalainen, Pasi I.; Groenholm, Juha; Seppaenen, Mikko R. J.; Boon, Louis; Uzel, Gulbu; Franco, Luis M.; Heller, Theo; Winer, Karen K.; Ghosh, Rajarshi; Seifert, Bryce A.; Walkiewicz, Magdalena; Notarangelo, Luigi D.; Zhou, Qing; Askentijevich, Ivona; Gahl, William; Dalgard, Cliffton L.; Perera, Lalith; Afzali, Behdad; Tas, Sander W.; Holland, Steven M.; Lionakis, Michail S. .png)
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SaveInterim analysis: Open-label extension study of leniolisib for patients with APDSRao, V. Koneti; Kulm, Elaine; Sediva, Anna; Plebani, Alessandro; Schuetz, Catharina; Shcherbina, Anna; Dalm, Virgil A.; Trizzino, Antonino; Zharankova, Yulia; Webster, Sharon; Orpia, Alanvin; Koeurorholz, Julia; Lougaris, Vassilios; Rodina, Yulia; Radford, Kath; Bradt, Jason; Relan, Anurag; Holland, Steven M.; Lenardo, Michael J.; Uzel, Gulbu Share Save Utility of genome sequencing in CNV identification in an immune disorders cohortSeifert, Bryce; Similuk, Morgan; Setzer, Michael; Yan, Jia; Kamen, Michael; Jodarski, Colleen; Jamal, Leila; Jevtich, Kathleen; Yu, Yunting; Duncan, Rylee; Hunt, Devin; Mixer, Madison; Beers, Breanna; Kuram, Vasu; Lack, Justin; Karlins, Eric; Oler, Andrew; Ghosh, Rajarshi; Bergerson, Jenna; Freeman, Alexandra; Fuss, Ivan; Lionakis, Michail; Strober, Warren; Uzel, Gulbu; Zerbe, Christa; Holland, Steven; Bi, Weimin; Franco, Luis; Walkiewicz-Yvon, Magdalena Share Save 
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