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.
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Journal ArticleDOI
Combined restriction landmark genomic scanning and virtual genome scans identify a novel human homeobox gene, ALX3, that is hypermethylated in neuroblastoma.
Katharina Wimmer,Xiao-Xiang Zhu,Jean Marie Rouillard,Peter F. Ambros,Barbara J. Lamb,Rork Kuick,Markus Eckart,Andreas Weinhäusl,Christa Fonatsch,Sam M. Hanash +9 more
TL;DR: A novel informatics tool is developed that makes it possible to predict automatically the sequence of fragments in RLGS patterns by matching to the human genome sequence, useful for the identification of genomic CpG island–related methylation changes or deletions in cancer.
Journal ArticleDOI
Neurofibromatosis 1: A Novel NF1 Mutation in an 11-Year-Old Girl With a Giant Cell Granuloma
Uta Krammer,Katharina Wimmer,Peter Wiesbauer,Michael Rasse,Susanna Lang,Andrea Müllner-Eidenböck,Herwig Frisch +6 more
TL;DR: An 11-year-old girl who presented with a painless unilateral enlargement of the nasal bridge was diagnosed with neurofibromatosis 1 and a novel splice mutation (A4268G) was uncovered, affecting her patient as well as her mother and brother.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation
Magdalena Koczkowska,Tom Callens,Alicia Gomes,Angela Sharp,Yunjia Chen,Alesha D. Hicks,Arthur S. Aylsworth,Amedeo A. Azizi,Donald Basel,Gary Bellus,Lynne M. Bird,Maria Blazo,Leah W. Burke,Ashley Cannon,Felicity Collins,Colette DeFilippo,Ellen Denayer,Maria Cristina Digilio,Shelley K. Dills,Laura Dosa,Robert S. Greenwood,Cristin Griffis,Punita Gupta,Rachel K. Hachen,Concepción Hernández-Chico,Sandra Janssens,Kristi J. Jones,Justin T. Jordan,Peter Kannu,Bruce R. Korf,Andrea M. Lewis,Robert Listernick,Fortunato Lonardo,Maurice J. Mahoney,Mayra Martinez Ojeda,Marie T. McDonald,Carey McDougall,Nancy J. Mendelsohn,David T. Miller,Mari Mori,Rianne Oostenbrink,Sébastien Perreault,Mary Ella M Pierpont,Carmelo Piscopo,Dinel A. Pond,Linda M. Randolph,Katherine A. Rauen,Surya P. Rednam,S. Lane Rutledge,Veronica Saletti,G. Bradley Schaefer,Elizabeth K. Schorry,Daryl A. Scott,Andrea Shugar,Elizabeth Siqveland,Lois J. Starr,Ashraf Syed,Pamela Trapane,Nicole J. Ullrich,Emily Wakefield,Laurence E. Walsh,Michael F. Wangler,Elaine H. Zackai,Kathleen Claes,Katharina Wimmer,Rick van Minkelen,Alessandro De Luca,Yolanda Martin,Eric Legius,Ludwine Messiaen +69 more
TL;DR: A correction has been published to this article as discussed by the authors, and the PDF and HTML have been updated accordingly to reflect the correction. But the content of this article is not changed in this article.
Journal ArticleDOI
Distinct sequences on 11q13.5 and 11q23-24 are frequently coamplified with MLL in complexly organized 11q amplicons in AML/MDS patients.
Andrea Zatkova,Reinhard Ullmann,Jean Marie Rouillard,Barbara J. Lamb,Rork Kuick,Sam M. Hanash,Susanne Schnittger,Claudia Schoch,Christa Fonatsch,Katharina Wimmer +9 more
TL;DR: It is demonstrated that 11q amplicons in AML/MDS patients display a complex organization and have provided evidence for coamplification of two additional regions on the long arm of chromosome 11 that may harbor candidate target genes.
Journal ArticleDOI
Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency
Peter Vasovčák,Anna Krepelova,Mirco Menigatti,Alena Puchmajerová,Petr Skapa,A Augustinakova,G Amann,Annekatrin Wernstedt,Josef Jiricny,Giancarlo Marra,Katharina Wimmer +10 more
TL;DR: 1st in vivo evidence that TDG acts against deleterious 5-methylcytosine deamination is found, and a somatic TDG mutation was found associated with TDG expression loss in the tumor.