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Congenital deficiency reveals critical role of ISG15 in skin homeostasis.
Malik MNH, Waqas SF, Zeitvogel J, Cheng J, Geffers R, Gouda ZA, Elsaman AM, Radwan AR, Schefzyk M, Braubach P, Auber B, Olmer R, Müsken M, Roesner LM, Gerold G, Schuchardt S, Merkert S, Martin U, Meissner F, Werfel T, Pessler F. Malik MNH, et al. Among authors: auber b. J Clin Invest. 2022 Feb 1;132(3):e141573. doi: 10.1172/JCI141573. J Clin Invest. 2022. PMID: 34847081 Free PMC article.
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.
Ferreira MA, Gamazon ER, Al-Ejeh F, Aittomäki K, Andrulis IL, Anton-Culver H, Arason A, Arndt V, Aronson KJ, Arun BK, Asseryanis E, Azzollini J, Balmaña J, Barnes DR, Barrowdale D, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Białkowska K, Blomqvist C, Bogdanova NV, Bojesen SE, Bolla MK, Borg A, Brauch H, Brenner H, Broeks A, Burwinkel B, Caldés T, Caligo MA, Campa D, Campbell I, Canzian F, Carter J, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Christiansen H, Chung WK, Claes KBM, Clarke CL; EMBRACE Collaborators; GC-HBOC Study Collaborators; GEMO Study Collaborators; Couch FJ, Cox A, Cross SS, Czene K, Daly MB, de la Hoya M, Dennis J, Devilee P, Diez O, Dörk T, Dunning AM, Dwek M, Eccles DM, Ejlertsen B, Ellberg C, Engel C, Eriksson M, Fasching PA, Fletcher O, Flyger H, Friedman E, Frost D, Gabrielson M, Gago-Dominguez M, Ganz PA, Gapstur SM, Garber J, García-Closas M, García-Sáenz JA, Gaudet MM, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Gronwald J, Guénel P, Haiman CA, Hall P, Hamann U, He W, Heyworth J, Hogervorst FBL, Hollestelle A, Hoover RN, Hopper JL, Hulick PJ, Humphreys K, Imyanitov EN; ABCTB Investigators; HEBON Inve… See abstract for full author list ➔ Ferreira MA, et al. Nat Commun. 2019 Apr 15;10(1):1741. doi: 10.1038/s41467-018-08053-5. Nat Commun. 2019. PMID: 30988301 Free PMC article.
Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.
Weber CAM, Krönke N, Volk V, Auber B, Förster A, Trost D, Geffers R, Esmaeilzadeh M, Lalk M, Nabavi A, Samii A, Krauss JK, Feuerhake F, Hartmann C, Wiese B, Brand F, Weber RG. Weber CAM, et al. Among authors: auber b. Acta Neuropathol Commun. 2023 Nov 21;11(1):184. doi: 10.1186/s40478-023-01689-5. Acta Neuropathol Commun. 2023. PMID: 37990341 Free PMC article.
Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export.
Stalke A, Pfister ED, Baumann U, Eilers M, Schäffer V, Illig T, Auber B, Schlegelberger B, Brackmann R, Prokisch H, Krooss S, Bohne J, Skawran B. Stalke A, et al. Among authors: auber b. Eur J Hum Genet. 2019 Jun;27(6):879-887. doi: 10.1038/s41431-019-0345-1. Epub 2019 Feb 5. Eur J Hum Genet. 2019. PMID: 30723317 Free PMC article.
Biomarkers of DNA Damage Response Enable Flow Cytometry-Based Diagnostic to Identify Inborn DNA Repair Defects in Primary Immunodeficiencies.
Felgentreff K, Baumann U, Klemann C, Schuetz C, Viemann D, Wetzke M, Pannicke U, von Hardenberg S, Auber B, Debatin KM, Jacobsen EM, Hoenig M, Schulz A, Schwarz K. Felgentreff K, et al. Among authors: auber b. J Clin Immunol. 2022 Feb;42(2):286-298. doi: 10.1007/s10875-021-01156-7. Epub 2021 Oct 30. J Clin Immunol. 2022. PMID: 34716846 Free PMC article.
75 results