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Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).
Bellos E, Santillo D, Vantourout P, Jackson HR, Duret A, Hearn H, Seeleuthner Y, Talouarn E, Hodeib S, Patel H, Powell O, Yeoh S, Mustafa S, Habgood-Coote D, Nichols S, Estramiana Elorrieta L, D'Souza G, Wright VJ, Estrada-Rivadeneyra D, Tremoulet AH, Dummer KB, Netea SA, Condino-Neto A, Lau YL, Núñez Cuadros E, Toubiana J, Holanda Pena M, Rieux-Laucat F, Luyt CE, Haerynck F, Mège JL, Chakravorty S, Haddad E, Morin MP, Metin Akcan Ö, Keles S, Emiroglu M, Alkan G, Tüter Öz SK, Elmas Bozdemir S, Morelle G, Volokha A, Kendir-Demirkol Y, Sözeri B, Coskuner T, Yahsi A, Gulhan B, Kanik-Yuksek S, Bayhan GI, Ozkaya-Parlakay A, Yesilbas O, Hatipoglu N, Ozcelik T, Belot A, Chopin E, Barlogis V, Sevketoglu E, Menentoglu E, Gayretli Aydin ZG, Bloomfield M, AlKhater SA, Cyrus C, Stepanovskiy Y, Bondarenko A, Öz FN, Polat M, Fremuth J, Lebl J, Geraldo A, Jouanguy E; COVID-19 Human Genetic Effort; DIAMONDS; EUCLIDS; Carter MJ, Wellman P, Peters M, Pérez de Diego R, Edwards LA, Chiu C, Noursadeghi M, Bolze A, Shimizu C, Kaforou M, Hamilton MS, Herberg JA, Schmitt EG, Rodriguez-Palmero A, Pujol A, Kim J, Cobat A, Abel L, Zhang SY, Casanova JL, Kuijpers TW, Burns JC, Levin M, Hayday AC, Sanc… See abstract for full author list ➔ Bellos E, et al. Among authors: schmitt eg. J Exp Med. 2024 Dec 2;221(12):e920240699. doi: 10.1084/jem.20240699. Epub 2024 Nov 22. J Exp Med. 2024. PMID: 39576310
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.
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.
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.
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
18 results