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IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
Cananzi M, Wohler E, Marzollo A, Colavito D, You J, Jing H, Bresolin S, Gaio P, Martin R, Mescoli C, Bade S, Posey JE, Dalle Carbonare M, Tung W, Jhangiani SN, Bosa L, Zhang Y, Filho JS, Gabelli M, Kellermayer R, Kader HA, Oliva-Hemker M, Perilongo G, Lupski JR, Biffi A, Valle D, Leon A, de Macena Sobreira NL, Su HC, Guerrerio AL. Cananzi M, et al. Among authors: bade s. Hum Genet. 2021 Sep;140(9):1299-1312. doi: 10.1007/s00439-021-02300-4. Epub 2021 Jun 29. Hum Genet. 2021. PMID: 34185153 Free PMC article. Clinical Trial.
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.
Lamborn IT, Jing H, Zhang Y, Drutman SB, Abbott JK, Munir S, Bade S, Murdock HM, Santos CP, Brock LG, Masutani E, Fordjour EY, McElwee JJ, Hughes JD, Nichols DP, Belkadi A, Oler AJ, Happel CS, Matthews HF, Abel L, Collins PL, Subbarao K, Gelfand EW, Ciancanelli MJ, Casanova JL, Su HC. Lamborn IT, et al. Among authors: bade s. J Exp Med. 2017 Jul 3;214(7):1949-1972. doi: 10.1084/jem.20161759. Epub 2017 Jun 12. J Exp Med. 2017. PMID: 28606988 Free PMC article.
Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency.
Abolhassani H, Edwards ES, Ikinciogullari A, Jing H, Borte S, Buggert M, Du L, Matsuda-Lennikov M, Romano R, Caridha R, Bade S, Zhang Y, Frederiksen J, Fang M, Bal SK, Haskologlu S, Dogu F, Tacyildiz N, Matthews HF, McElwee JJ, Gostick E, Price DA, Palendira U, Aghamohammadi A, Boisson B, Rezaei N, Karlsson AC, Lenardo MJ, Casanova JL, Hammarström L, Tangye SG, Su HC, Pan-Hammarström Q. Abolhassani H, et al. Among authors: bade s. J Exp Med. 2017 Jan;214(1):91-106. doi: 10.1084/jem.20160849. Epub 2016 Dec 23. J Exp Med. 2017. PMID: 28011864 Free PMC article.
BRCA1 haploinsufficiency for replication stress suppression in primary cells.
Pathania S, Bade S, Le Guillou M, Burke K, Reed R, Bowman-Colin C, Su Y, Ting DT, Polyak K, Richardson AL, Feunteun J, Garber JE, Livingston DM. Pathania S, et al. Among authors: bade s. Nat Commun. 2014 Nov 17;5:5496. doi: 10.1038/ncomms6496. Nat Commun. 2014. PMID: 25400221 Free PMC article.
Identification and risk stratification of coronary disease by artificial intelligence-enabled ECG.
Awasthi S, Sachdeva N, Gupta Y, Anto AG, Asfahan S, Abbou R, Bade S, Sood S, Hegstrom L, Vellanki N, Alger HM, Babu M, Medina-Inojosa JR, McCully RB, Lerman A, Stampehl M, Barve R, Attia ZI, Friedman PA, Soundararajan V, Lopez-Jimenez F. Awasthi S, et al. Among authors: bade s. EClinicalMedicine. 2023 Oct 24;65:102259. doi: 10.1016/j.eclinm.2023.102259. eCollection 2023 Nov. EClinicalMedicine. 2023. PMID: 38106563 Free PMC article.
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