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Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.
Similuk MN, Yan J, Ghosh R, Oler AJ, Franco LM, Setzer MR, Kamen M, Jodarski C, DiMaggio T, Davis J, Gore R, Jamal L, Borges A, Gentile N, Niemela J, Lowe C, Jevtich K, Yu Y, Hullfish H, Hsu AP, Hong C, Littel P, Seifert BA, Milner J, Johnston JJ, Cheng X, Li Z, Veltri D, Huang K, Kaladi K, Barnett J, Zhang L, Vlasenko N, Fan Y, Karlins E, Ganakammal SR, Gilmore R, Tran E, Yun A, Mackey J, Yazhuk S, Lack J, Kuram V, Cao W, Huse S, Frank K, Fahle G, Rosenzweig S, Su Y, Hwang S, Bi W, Bennett J, Myles IA, De Ravin SS, Fuss I, Strober W, Bielekova B, Almeida de Jesus A, Goldbach-Mansky R, Williamson P, Kumar K, Dempsy C, Frischmeyer-Guerrerio P, Fisch R, Bolan H, Metcalfe DD, Komarow H, Carter M, Druey KM, Sereti I, Dropulic L, Klion AD, Khoury P, O' Connell EM, Holland-Thomas NC, Brown T, McDermott DH, Murphy PM, Bundy V, Keller MD, Peng C, Kim H, Norman S, Delmonte OM, Kang E, Su HC, Malech H, Freeman A, Zerbe C, Uzel G, Bergerson JRE, Rao VK, Olivier KN, Lyons JJ, Lisco A, Cohen JI, Lionakis MS, Biesecker LG, Xirasagar S, Notarangelo LD, Holland SM, Walkiewicz MA. Similuk MN, et al. Among authors: almeida de jesus a. J Allergy Clin Immunol. 2022 Oct;150(4):947-954. doi: 10.1016/j.jaci.2022.06.009. Epub 2022 Jun 24. J Allergy Clin Immunol. 2022. PMID: 35753512 Free PMC article. Review.
Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.
Suri D, Rawat A, Jindal AK, Vignesh P, Gupta A, Pilania RK, Joshi V, Arora K, Kumrah R, Anjani G, Aggarwal A, Phadke S, Aboobacker FN, George B, Edison ES, Desai M, Taur P, Gowri V, Pandrowala AA, Bhattad S, Kanakia S, Gottorno M, Ceccherini I, Almeida de Jesus A, Goldbach-Mansky R, Hershfield MS, Singh S. Suri D, et al. Among authors: almeida de jesus a. Front Immunol. 2021 Mar 19;12:630691. doi: 10.3389/fimmu.2021.630691. eCollection 2021. Front Immunol. 2021. PMID: 33815380 Free PMC article.
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, Montealegre G, Biancotto A, Reinhardt A, Almeida de Jesus A, Pelletier M, Tsai WL, Remmers EF, Kardava L, Hill S, Kim H, Lachmann HJ, Megarbane A, Chae JJ, Brady J, Castillo RD, Brown D, Casano AV, Gao L, Chapelle D, Huang Y, Stone D, Chen Y, Sotzny F, Lee CC, Kastner DL, Torrelo A, Zlotogorski A, Moir S, Gadina M, McCoy P, Wesley R, Rother KI, Hildebrand PW, Brogan P, Krüger E, Aksentijevich I, Goldbach-Mansky R. Brehm A, et al. Among authors: almeida de jesus a. J Clin Invest. 2015 Nov 2;125(11):4196-211. doi: 10.1172/JCI81260. Epub 2015 Oct 20. J Clin Invest. 2015. PMID: 26524591 Free PMC article.