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Multiplexed Functional Assessment of Genetic Variants in CARD11.
Meitlis I, Allenspach EJ, Bauman BM, Phan IQ, Dabbah G, Schmitt EG, Camp ND, Torgerson TR, Nickerson DA, Bamshad MJ, Hagin D, Luthers CR, Stinson JR, Gray J, Lundgren I, Church JA, Butte MJ, Jordan MB, Aceves SS, Schwartz DM, Milner JD, Schuval S, Skoda-Smith S, Cooper MA, Starita LM, Rawlings DJ, Snow AL, James RG. Meitlis I, et al. Among authors: schmitt eg. Am J Hum Genet. 2020 Dec 3;107(6):1029-1043. doi: 10.1016/j.ajhg.2020.10.015. Epub 2020 Nov 16. Am J Hum Genet. 2020. PMID: 33202260 Free PMC article.
STAT1 Gain-of-Function Leading to Clinical Behçet's Syndrome.
Aluri J, Schmitt EG, Du M; STAT1 Behçet’s working group; Cooper MA. Aluri J, et al. Among authors: schmitt eg. J Clin Immunol. 2023 Aug;43(6):1155-1158. doi: 10.1007/s10875-023-01515-6. Epub 2023 May 16. J Clin Immunol. 2023. PMID: 37188830 No abstract available.
SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?
Sancho-Shimizu V, Brodin P, Cobat A, Biggs CM, Toubiana J, Lucas CL, Henrickson SE, Belot A; MIS-C@CHGE; Tangye SG, Milner JD, Levin M, Abel L, Bogunovic D, Casanova JL, Zhang SY. Sancho-Shimizu V, et al. J Exp Med. 2021 Jun 7;218(6):e20210446. doi: 10.1084/jem.20210446. J Exp Med. 2021. PMID: 33904890 Free PMC article. Review.
A Week of Nightly Fevers in a 10-year-old Girl.
Kreienkamp RJ, Schmitt EG, Gaut J, Stotter BR. Kreienkamp RJ, et al. Among authors: schmitt eg. Pediatr Rev. 2021 Dec 1;42(12):694-697. doi: 10.1542/pir.2020-003129. Pediatr Rev. 2021. PMID: 36017954 No abstract available.
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.
Blincoe A, Heeg M, Campbell PK, Hines M, Khojah A, Klein-Gitelman M, Talano JA, Speckmann C, Touzot F, Lankester A, Legger GE, Rivière JG, Garcia-Prat M, Alonso L, Putti MC, Lehmberg K, Maier S, El Chazli Y, Elmaksoud MA, Astigarraga I, Kurjane N, Bulina I, Kenina V, Bryceson Y, Rascon J, Lortie A, Goldstein G, Booth C, Worth A, Wassmer E, Schmitt EG, Warren JT, Bednarski JJ, Ali S, Chiang KY, Krueger J, Henry MM, Holland SM, Marsh RA, Ehl S, Haddad E. Blincoe A, et al. Among authors: schmitt eg. J Clin Immunol. 2020 Aug;40(6):901-916. doi: 10.1007/s10875-020-00814-6. Epub 2020 Jul 7. J Clin Immunol. 2020. PMID: 32638196
17 results