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Page 1
Fecal metabolite profiling identifies liver transplant recipients at risk for postoperative infection.
Lehmann CJ, Dylla NP, Odenwald M, Nayak R, Khalid M, Boissiere J, Cantoral J, Adler E, Stutz MR, Dela Cruz M, Moran A, Lin H, Ramaswamy R, Sundararajan A, Sidebottom AM, Little J, Pamer EG, Aronsohn A, Fung J, Baker TB, Kacha A. Lehmann CJ, et al. Among authors: boissiere j. Cell Host Microbe. 2024 Jan 10;32(1):117-130.e4. doi: 10.1016/j.chom.2023.11.016. Epub 2023 Dec 15. Cell Host Microbe. 2024. PMID: 38103544
Immunomodulatory fecal metabolites are associated with mortality in COVID-19 patients with respiratory failure.
Stutz MR, Dylla NP, Pearson SD, Lecompte-Osorio P, Nayak R, Khalid M, Adler E, Boissiere J, Lin H, Leiter W, Little J, Rose A, Moran D, Mullowney MW, Wolfe KS, Lehmann C, Odenwald M, De La Cruz M, Giurcanu M, Pohlman AS, Hall JB, Chaubard JL, Sundararajan A, Sidebottom A, Kress JP, Pamer EG, Patel BK. Stutz MR, et al. Among authors: boissiere j. Nat Commun. 2022 Nov 3;13(1):6615. doi: 10.1038/s41467-022-34260-2. Nat Commun. 2022. PMID: 36329015 Free PMC article.
Bifidobacteria metabolize lactulose to optimize gut metabolites and prevent systemic infection in patients with liver disease.
Odenwald MA, Lin H, Lehmann C, Dylla NP, Cole CG, Mostad JD, Pappas TE, Ramaswamy R, Moran A, Hutchison AL, Stutz MR, Dela Cruz M, Adler E, Boissiere J, Khalid M, Cantoral J, Haro F, Oliveira RA, Waligurski E, Cotter TG, Light SH, Beavis KG, Sundararajan A, Sidebottom AM, Reddy KG, Paul S, Pillai A, Te HS, Rinella ME, Charlton MR, Pamer EG, Aronsohn AI. Odenwald MA, et al. Among authors: boissiere j. Nat Microbiol. 2023 Nov;8(11):2033-2049. doi: 10.1038/s41564-023-01493-w. Epub 2023 Oct 16. Nat Microbiol. 2023. PMID: 37845315 Free PMC article.
Parvovirus B19 in Pregnancy.
Boissiere J, Watkins V, Kuller JA, Dotters-Katz SK. Boissiere J, et al. Obstet Gynecol Surv. 2024 May;79(5):281-289. doi: 10.1097/OGX.0000000000001263. Obstet Gynecol Surv. 2024. PMID: 38764205 Review.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium; Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A. Dominik N, et al. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 Free PMC article.
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Chen Z, Tucci A, Cipriani V, Gustavsson EK, Ibañez K, Reynolds RH, Zhang D, Vestito L, García AC, Sethi S, Brenton JW, García-Ruiz S, Fairbrother-Browne A, Gil-Martinez AL; Genomics England Research Consortium; Wood N, Hardy JA, Smedley D, Houlden H, Botía J, Ryten M. Chen Z, et al. Brain. 2023 Jul 3;146(7):2869-2884. doi: 10.1093/brain/awad009. Brain. 2023. PMID: 36624280 Free PMC article.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnière R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabó A, Sümegi K, Cossée M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H; Genomics England Research Consortium. Morsy H, et al. Genet Med. 2023 Jan;25(1):76-89. doi: 10.1016/j.gim.2022.09.013. Epub 2022 Nov 4. Genet Med. 2023. PMID: 36331550 Free PMC article.
60 results