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Page 1
Identification of Epigenetically Regulated Genes Distinguishing Intracranial from Extracranial Melanoma Metastases.
Westphal D, Meinhardt M, Grützmann K, Schöne L, Steininger J, Neuhaus LT, Wiegel M, Schrimpf D, Aust DE, Schröck E, Baretton GB, Beissert S, Juratli TA, Schackert GG, Gravemeyer J, Becker JC, von Deimling A, Koelsche C, Klink B, Meier F, Schulz A, Muders MH, Seifert M. Westphal D, et al. Among authors: schrock e. J Invest Dermatol. 2023 Jul;143(7):1233-1245.e17. doi: 10.1016/j.jid.2023.01.011. Epub 2023 Jan 28. J Invest Dermatol. 2023. PMID: 36716920 Free article.
Signaling-induced systematic repression of miRNAs uncovers cancer vulnerabilities and targeted therapy sensitivity.
Wurm AA, Brilloff S, Kolovich S, Schäfer S, Rahimian E, Kufrin V, Bill M, Carrero ZI, Drukewitz S, Krüger A, Hüther M, Uhrig S, Oster S, Westphal D, Meier F, Pfütze K, Hübschmann D, Horak P, Kreutzfeldt S, Richter D, Schröck E, Baretton G, Heining C, Möhrmann L, Fröhling S, Ball CR, Glimm H. Wurm AA, et al. Among authors: schrock e. Cell Rep Med. 2023 Oct 17;4(10):101200. doi: 10.1016/j.xcrm.2023.101200. Epub 2023 Sep 20. Cell Rep Med. 2023. PMID: 37734378 Free PMC article.
A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children.
Friedrich UA, Bienias M, Zinke C, Prazenicova M, Lohse J, Jahn A, Menzel M, Langanke J, Walter C, Wagener R, Brozou T, Varghese J, Dugas M, Erlacher M, Schröck E, Suttorp M, Borkhardt A, Hauer J, Auer F. Friedrich UA, et al. Among authors: schrock e. Genet Med. 2023 Aug;25(8):100875. doi: 10.1016/j.gim.2023.100875. Epub 2023 May 3. Genet Med. 2023. PMID: 37149759 Free article.
Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.
Kerle IA, Gross T, Kögler A, Arnold JS, Werner M, Eckardt JN, Möhrmann EE, Arlt M, Hutter B, Hüllein J, Richter D, Schneider MMK, Hlevnjak M, Möhrmann L, Hanf D, Heilig CE, Kreutzfeldt S, Teleanu MV, Schröck E, Hübschmann D, Horak P, Heining C, Fröhling S, Glimm H. Kerle IA, et al. Among authors: schrock e. NPJ Precis Oncol. 2025 Jan 10;9(1):9. doi: 10.1038/s41698-024-00788-3. NPJ Precis Oncol. 2025. PMID: 39794422 Free PMC article.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter AA, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl AM, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott CE, Schülke M, Nguyen HHP, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz RC, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec AM, Karakostas P, Schäfer VS, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Basin MA, Incardona P, Lee-Kirsch MA, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke AM, Kaiser FJ, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold EMC, Schaaf CP, Zawada M, Kaufmann L, Hinderhofer K, Okun PM, Kotzaeridou U, Hoffmann … See abstract for full author list ➔ Schmidt A, et al. Among authors: schrock e. Nat Genet. 2024 Aug;56(8):1644-1653. doi: 10.1038/s41588-024-01836-1. Epub 2024 Jul 22. Nat Genet. 2024. PMID: 39039281 Free PMC article.
226 results