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Page 1
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.
Extending the allelic spectrum at noncoding risk loci of orofacial clefting.
Thieme F, Henschel L, Hammond NL, Ishorst N, Hausen J, Adamson AD, Biedermann A, Bowes J, Zieger HK, Maj C, Kruse T, Buness A, Hoischen A, Gilissen C, Kreusch T, Jäger A, Gölz L, Braumann B, Aldhorae K, Rojas-Martinez A, Krawitz PM, Mangold E, Dixon MJ, Ludwig KU. Thieme F, et al. Among authors: buness a. Hum Mutat. 2021 Aug;42(8):1066-1078. doi: 10.1002/humu.24219. Epub 2021 Jun 3. Hum Mutat. 2021. PMID: 34004033
GenRisk: a tool for comprehensive genetic risk modeling.
Aldisi R, Hassanin E, Sivalingam S, Buness A, Klinkhammer H, Mayr A, Fröhlich H, Krawitz P, Maj C. Aldisi R, et al. Among authors: buness a. Bioinformatics. 2022 Apr 28;38(9):2651-2653. doi: 10.1093/bioinformatics/btac152. Bioinformatics. 2022. PMID: 35266528 Free PMC article.
Iron Deficiency Caused by Intestinal Iron Loss-Novel Candidate Genes for Severe Anemia.
Huettmann C, Stelljes M, Sivalingam S, Fobker M, Vrachimis A, Exler A, Wenning C, Wempe C, Penke M, Buness A, Ludwig KU, Muckenthaler MU, Steinbicker AU. Huettmann C, et al. Among authors: buness a. Genes (Basel). 2021 Nov 24;12(12):1869. doi: 10.3390/genes12121869. Genes (Basel). 2021. PMID: 34946818 Free PMC article.
Reconstruction of the origin of the first major SARS-CoV-2 outbreak in Germany.
Korencak M, Sivalingam S, Sahu A, Dressen D, Schmidt A, Brand F, Krawitz P, Hart L, Maria Eis-Hübinger A, Buness A, Streeck H. Korencak M, et al. Among authors: buness a. Comput Struct Biotechnol J. 2022;20:2292-2296. doi: 10.1016/j.csbj.2022.05.011. Epub 2022 May 10. Comput Struct Biotechnol J. 2022. PMID: 35574268 Free PMC article.
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Wang H, Humbatova A, Liu Y, Qin W, Lee M, Cesarato N, Kortüm F, Kumar S, Romano MT, Dai S, Mo R, Sivalingam S, Motameny S, Wu Y, Wang X, Niu X, Geng S, Bornholdt D, Kroisel PM, Tadini G, Walter SD, Hauck F, Girisha KM, Calza AM, Bottani A, Altmüller J, Buness A, Yang S, Sun X, Ma L, Kutsche K, Grzeschik KH, Betz RC, Lin Z. Wang H, et al. Among authors: buness a. Am J Hum Genet. 2020 Jul 2;107(1):34-45. doi: 10.1016/j.ajhg.2020.05.006. Epub 2020 Jun 3. Am J Hum Genet. 2020. PMID: 32497488 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.
55 results