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822 results

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Page 1
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Bassani S, Chrast J, Ambrosini G, Voisin N, Schütz F, Brusco A, Sirchia F, Turban L, Schubert S, Abou Jamra R, Schlump JU, DeMille D, Bayrak-Toydemir P, Nelson GR, Wong KN, Duncan L, Mosera M, Gilissen C, Vissers LELM, Pfundt R, Kersseboom R, Yttervik H, Hansen GÅM, Smeland MF, Butler KM, Lyons MJ, Carvalho CMB, Zhang C, Lupski JR, Potocki L, Flores-Gallegos L, Morales-Toquero R, Petit F, Yalcin B, Tuttle A, Elloumi HZ, McCormick L, Kukolich M, Klaas O, Horvath J, Scala M, Iacomino M, Operto F, Zara F, Writzl K, Maver A, Haanpää MK, Pohjola P, Arikka H, Kievit AJA, Calandrini C, Iseli C, Guex N, Reymond A. Bassani S, et al. Among authors: schubert s. Genome Med. 2024 May 30;16(1):72. doi: 10.1186/s13073-024-01339-y. Genome Med. 2024. PMID: 38811945 Free PMC article.
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D. Neuser S, et al. Among authors: schubert s. Hum Mutat. 2021 Jun;42(6):762-776. doi: 10.1002/humu.24206. Epub 2021 May 11. Hum Mutat. 2021. PMID: 33847017
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.
Neuser S, Krey I, Schwan A, Abou Jamra R, Bartolomaeus T, Döring J, Syrbe S, Plassmann M, Rohde S, Roth C, Rehder H, Radtke M, Le Duc D, Schubert S, Bermúdez-Guzmán L, Leal A, Schoner K, Popp B. Neuser S, et al. Among authors: schubert s. Eur J Hum Genet. 2022 Jan;30(1):101-110. doi: 10.1038/s41431-021-00982-y. Epub 2021 Oct 25. Eur J Hum Genet. 2022. PMID: 34697416 Free PMC article.
Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.
Bergner CG, Breur M, Soto-Bernardini MC, Schäfer L, Lier J, Le Duc D, Bundalian L, Schubert S, Brenner D, Kreuz FR, Schulte B, Waisfisz Q, Bugiani M, Köhler W, Sticht H, Abou Jamra R, van der Knaap MS. Bergner CG, et al. Among authors: schubert s. Brain. 2024 Mar 15:awae085. doi: 10.1093/brain/awae085. Online ahead of print. Brain. 2024. PMID: 38489591
Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.
Roessler F, Beck AE, Susie B, Tobias B, Begtrup A, Biskup S, Caluseriu O, Delanty N, Fröhlich C, Greally MT, Karnstedt M, Klöckner C, Kurtzberg J, Schubert S, Schulze M, Weidenbach M, Westphal DS, White M, Wolf CM, Zyskind J, Popp B, Strehlow V. Roessler F, et al. Among authors: schubert s. Am J Med Genet A. 2023 Feb;191(2):469-478. doi: 10.1002/ajmg.a.63044. Epub 2022 Nov 25. Am J Med Genet A. 2023. PMID: 36426740 Review.
Germline variant affecting p53β isoforms predisposes to familial cancer.
Schubert SA, Ruano D, Joruiz SM, Stroosma J, Glavak N, Montali A, Pinto LM, Rodríguez-Girondo M, Barge-Schaapveld DQCM, Nielsen M, van Nesselrooij BPM, Mensenkamp AR, van Leerdam ME, Sharp TH, Morreau H, Bourdon JC, de Miranda NFCC, van Wezel T. Schubert SA, et al. Nat Commun. 2024 Sep 18;15(1):8208. doi: 10.1038/s41467-024-52551-8. Nat Commun. 2024. PMID: 39294166 Free PMC article.
Antibiotic-loaded nanoparticles for the treatment of intracellular methicillin-resistant Staphylococcus Aureus infections: In vitro and in vivo efficacy of a novel antibiotic.
Costabile G, Baldassi D, Müller C, Groß B, Ungaro F, Schubert S, Firestine SM, Merkel OM. Costabile G, et al. Among authors: schubert s. J Control Release. 2024 Oct;374:454-465. doi: 10.1016/j.jconrel.2024.08.029. Epub 2024 Aug 26. J Control Release. 2024. PMID: 39181163 Free article.
Risankizumab for Ulcerative Colitis: Two Randomized Clinical Trials.
Louis E, Schreiber S, Panaccione R, Bossuyt P, Biedermann L, Colombel JF, Parkes G, Peyrin-Biroulet L, D'Haens G, Hisamatsu T, Siegmund B, Wu K, Boland BS, Melmed GY, Armuzzi A, Levine P, Kalabic J, Chen S, Cheng L, Shu L, Duan WR, Pivorunas V, Sanchez Gonzalez Y, D'Cunha R, Neimark E, Wallace K, Atreya R, Ferrante M, Loftus EV Jr; INSPIRE and COMMAND Study Group. Louis E, et al. JAMA. 2024 Sep 17;332(11):881-897. doi: 10.1001/jama.2024.12414. JAMA. 2024. PMID: 39037800 Clinical Trial.
822 results