K
Katharina Wimmer
Researcher at Innsbruck Medical University
Publications - 78
Citations - 3523
Katharina Wimmer is an academic researcher from Innsbruck Medical University. The author has contributed to research in topics: Gene & Lynch syndrome. The author has an hindex of 30, co-authored 69 publications receiving 2987 citations. Previous affiliations of Katharina Wimmer include Medical University of Vienna & University of Vienna.
Papers
More filters
Journal ArticleDOI
Demethylation of repetitive DNA sequences in neuroblastoma
Didier Thoraval,Jun Ichi Asakawa,Katharina Wimmer,Rork Kuick,Barbara J. Lamb,Bruce Richardson,Peter F. Ambros,Thomas W. Glover,Samir M. Hanash +8 more
TL;DR: The finding of a distinct pattern of methylation of repetitive units in neuroblastoma suggests that altered methylation at certain loci may contribute to the biology of this tumor.
Journal ArticleDOI
Mutational and expression analysis of the NF1 gene argues against a role as tumor suppressor in sporadic pilocytic astrocytomas.
TL;DR: The data presented here argue against altered NF1 gene expression and the involvement of theNF1 gene in the tumorigenesis of sporadic pilocytic astrocytomas.
Journal ArticleDOI
Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients
TL;DR: It is shown that restoring viability of lymphocytes before RNA extraction by cultivation and PHA stimulation diminishes aberrant splicing in aged blood and is thus useful to circumvent splicing alterations which are frequently compromising mutation detection in patient samples and mimic mutation-induced alterations of mRNA.
Journal ArticleDOI
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints
Julia Vogt,Kathrin Bengesser,Kathleen Claes,Katharina Wimmer,Victor-Felix Mautner,Rick van Minkelen,Eric Legius,Hilde Brems,Meena Upadhyaya,Josef Högel,Conxi Lázaro,Thorsten Rosenbaum,Simone Bammert,Ludwine Messiaen,David Neil Cooper,Hildegard Kehrer-Sawatzki +15 more
TL;DR: SVA insertion-associated large genomic deletions encompassing many hundreds of kilobases could constitute a novel and as yet under-appreciated mechanism underlying large-scale copy number changes in the human genome.
Journal ArticleDOI
Virtual Genome Scan: A Tool for Restriction Landmark-Based Scanning of the Human Genome
Jean Marie Rouillard,Ayse E. Erson,Rork Kuick,Jun Ichi Asakawa,Katharina Wimmer,Martine Muleris,Elizabeth M. Petty,Samir M. Hanash +7 more
TL;DR: The utility of VGS is demonstrated by the identification of restriction fragment length polymorphisms, and of amplifications, deletions, and methylation changes in tumor-derived CpG islands and the characterization of an amplified region in a breast tumor that spanned <230 kb on 17q23.