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Page 1
Paediatric and adult soft tissue sarcomas with NTRK1 gene fusions: a subset of spindle cell sarcomas unified by a prominent myopericytic/haemangiopericytic pattern.
Haller F, Knopf J, Ackermann A, Bieg M, Kleinheinz K, Schlesner M, Moskalev EA, Will R, Satir AA, Abdelmagid IE, Giedl J, Carbon R, Rompel O, Hartmann A, Wiemann S, Metzler M, Agaimy A. Haller F, et al. Among authors: wiemann s. J Pathol. 2016 Apr;238(5):700-10. doi: 10.1002/path.4701. J Pathol. 2016. PMID: 26863915
Environment-induced epigenetic reprogramming in genomic regulatory elements in smoking mothers and their children.
Bauer T, Trump S, Ishaque N, Thürmann L, Gu L, Bauer M, Bieg M, Gu Z, Weichenhan D, Mallm JP, Röder S, Herberth G, Takada E, Mücke O, Winter M, Junge KM, Grützmann K, Rolle-Kampczyk U, Wang Q, Lawerenz C, Borte M, Polte T, Schlesner M, Schanne M, Wiemann S, Geörg C, Stunnenberg HG, Plass C, Rippe K, Mizuguchi J, Herrmann C, Eils R, Lehmann I. Bauer T, et al. Among authors: wiemann s. Mol Syst Biol. 2016 Mar 24;12(3):861. doi: 10.15252/msb.20156520. Mol Syst Biol. 2016. PMID: 27013061 Free PMC article.
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.
Evers C, Staufner C, Granzow M, Paramasivam N, Hinderhofer K, Kaufmann L, Fischer C, Thiel C, Opladen T, Kotzaeridou U, Wiemann S, Schlesner M, Eils R, Kölker S, Bartram CR, Hoffmann GF, Moog U. Evers C, et al. Among authors: wiemann s. Mol Genet Metab. 2017 Aug;121(4):297-307. doi: 10.1016/j.ymgme.2017.06.014. Epub 2017 Jun 30. Mol Genet Metab. 2017. PMID: 28688840
A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.
Rafiullah R, Long AB, Ivanova AA, Ali H, Berkel S, Mustafa G, Paramasivam N, Schlesner M, Wiemann S, Wade RC, Bolthauser E, Blum M, Kahn RA, Caspary T, Rappold GA. Rafiullah R, et al. Among authors: wiemann s. Eur J Hum Genet. 2017 Dec;25(12):1324-1334. doi: 10.1038/s41431-017-0031-0. Epub 2017 Nov 15. Eur J Hum Genet. 2017. PMID: 29255182 Free PMC article.
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.
Dimitrov B, Himmelreich N, Hipgrave Ederveen AL, Lüchtenborg C, Okun JG, Breuer M, Hutter AM, Carl M, Guglielmi L, Hellwig A, Thiemann KC, Jost M, Peters V, Staufner C, Hoffmann GF, Hackenberg A, Paramasivam N, Wiemann S, Eils R, Schlesner M, Strahl S, Brügger B, Wuhrer M, Christoph Korenke G, Thiel C. Dimitrov B, et al. Among authors: wiemann s. Mol Genet Metab. 2018 Mar;123(3):364-374. doi: 10.1016/j.ymgme.2018.01.008. Epub 2018 Jan 31. Mol Genet Metab. 2018. PMID: 29396028
The genomic and transcriptional landscape of primary central nervous system lymphoma.
Radke J, Ishaque N, Koll R, Gu Z, Schumann E, Sieverling L, Uhrig S, Hübschmann D, Toprak UH, López C, Hostench XP, Borgoni S, Juraeva D, Pritsch F, Paramasivam N, Balasubramanian GP, Schlesner M, Sahay S, Weniger M, Pehl D, Radbruch H, Osterloh A, Korfel A, Misch M, Onken J, Faust K, Vajkoczy P, Moskopp D, Wang Y, Jödicke A, Trümper L, Anagnostopoulos I, Lenze D, Küppers R, Hummel M, Schmitt CA, Wiestler OD, Wolf S, Unterberg A, Eils R, Herold-Mende C, Brors B; ICGC MMML-Seq Consortium; Siebert R, Wiemann S, Heppner FL. Radke J, et al. Among authors: wiemann s. Nat Commun. 2022 May 10;13(1):2558. doi: 10.1038/s41467-022-30050-y. Nat Commun. 2022. PMID: 35538064 Free PMC article.
234 results