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Retention of ES cell-derived 129S genome drives NLRP1 hypersensitivity and transcriptional deregulation in Nlrp3tm1Flv mice.
Weiss FD, Alvarez Y, Shakeri F, Sahu A, Leka P, Dernst A, Rollheiser J, Vasconcelos M, Geraci A, Duthie F, Stahl R, Lee HE, Gellner AK, Buness A, Latz E, Meissner F. Weiss FD, et al. Among authors: buness a. Cell Death Differ. 2024 Sep 17. doi: 10.1038/s41418-024-01379-2. Online ahead of print. Cell Death Differ. 2024. PMID: 39289506
NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant calling.
Hanssen F, Gabernet G, Bäuerle F, Stöcker B, Wiegand F, Smith NH, Mertes C, Neogi AG, Brandhoff L, Ossowski A, Altmueller J, Becker K, Petzold A, Sturm M, Stöcker T, Sivalingam S, Brand F, Schmidt A, Buness A, Probst AJ, Motameny S, Köster J. Hanssen F, et al. Among authors: buness a. F1000Res. 2024 Sep 12;12:1125. doi: 10.12688/f1000research.140344.1. eCollection 2023. F1000Res. 2024. PMID: 39345270 Free PMC article.
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations.
Fabian J, Dworschak GC, Waffenschmidt L, Schierbaum L, Bendixen C, Heilmann-Heimbach S, Sivalingam S, Buness A, Schwarzer N, Boemers TM, Schmiedeke E, Neser J, Leonhardt J, Kosch F, Weih S, Gielen HM, Hosie S, Kabs C, Palta M, Märzheuser S, Bode LM, Lacher M, Schäfer FM, Stehr M, Knorr C, Ure B, Kleine K, Rolle U, Zaniew M, Phillip G, Zwink N, Jenetzky E, Reutter H, Hilger AC. Fabian J, et al. Among authors: buness a. Eur J Hum Genet. 2023 Jan;31(1):105-111. doi: 10.1038/s41431-022-01216-5. Epub 2022 Nov 1. Eur J Hum Genet. 2023. PMID: 36319675 Free PMC article.
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.
Ishorst N, Henschel L, Thieme F, Drichel D, Sivalingam S, Mehrem SL, Fechtner AC, Fazaal J, Welzenbach J, Heimbach A, Maj C, Borisov O, Hausen J, Raff R, Hoischen A, Dixon M, Rada-Iglesias A, Bartusel M, Rojas-Martinez A, Aldhorae K, Braumann B, Kruse T, Kirschneck C, Spanier G, Reutter H, Nowak S, Gölz L, Knapp M, Buness A, Krawitz P, Nöthen MM, Nothnagel M, Becker T, Ludwig KU, Mangold E. Ishorst N, et al. Among authors: buness a. Mol Genet Genomic Med. 2023 Mar;11(3):e2109. doi: 10.1002/mgg3.2109. Epub 2022 Dec 5. Mol Genet Genomic Med. 2023. PMID: 36468602 Free PMC article.
Deficiency for SAMHD1 activates MDA5 in a cGAS/STING-dependent manner.
Schumann T, Ramon SC, Schubert N, Mayo MA, Hega M, Maser KI, Ada SR, Sydow L, Hajikazemi M, Badstübner M, Müller P, Ge Y, Shakeri F, Buness A, Rupf B, Lienenklaus S, Utess B, Muhandes L, Haase M, Rupp L, Schmitz M, Gramberg T, Manel N, Hartmann G, Zillinger T, Kato H, Bauer S, Gerbaulet A, Paeschke K, Roers A, Behrendt R. Schumann T, et al. Among authors: buness a. J Exp Med. 2023 Jan 2;220(1):e20220829. doi: 10.1084/jem.20220829. Epub 2022 Nov 8. J Exp Med. 2023. PMID: 36346347 Free PMC article.
A novel serum extracellular vesicle protein signature to monitor glioblastoma tumor progression.
Tzaridis T, Weller J, Bachurski D, Shakeri F, Schaub C, Hau P, Buness A, Schlegel U, Steinbach JP, Seidel C, Goldbrunner R, Schäfer N, Wechsler-Reya RJ, Hallek M, Scheffler B, Glas M, Haeberle L, Herrlinger U, Coch C, Reiners KS, Hartmann G. Tzaridis T, et al. Among authors: buness a. Int J Cancer. 2023 Jan 15;152(2):308-319. doi: 10.1002/ijc.34261. Epub 2022 Sep 17. Int J Cancer. 2023. PMID: 36054558
58 results