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
Comprehensive Analysis of Hypermutation in Human Cancer
Brittany Campbell,Nicholas Light,David Fabrizio,Matthew Zatzman,Fabio Fuligni,Richard de Borja,Scott Davidson,Melissa Edwards,Julia A. Elvin,Karl P. Hodel,Walter J. Zahurancik,Zucai Suo,Tatiana Lipman,Katharina Wimmer,Christian P. Kratz,Daniel C. Bowers,Theodore W. Laetsch,Gavin P. Dunn,Tanner M. Johanns,Matthew R. Grimmer,Ivan Smirnov,Valerie Larouche,David Samuel,Annika Bronsema,Michael Osborn,Duncan Stearns,Pichai Raman,Kristina A. Cole,Phillip B. Storm,Michal Yalon,Enrico Opocher,Gary Mason,Gregory Thomas,Magnus Sabel,Ben George,David S. Ziegler,David S. Ziegler,Scott Lindhorst,Vanan Magimairajan Issai,Shlomi Constantini,Helen Toledano,Ronit Elhasid,Roula Farah,Rina Dvir,Peter B. Dirks,Annie Huang,Melissa Galati,Jiil Chung,Vijay Ramaswamy,Meredith S. Irwin,Melyssa Aronson,Carol Durno,Michael D. Taylor,Gideon Rechavi,John M. Maris,Eric Bouffet,Cynthia Hawkins,Joseph F. Costello,M. Stephen Meyn,M. Stephen Meyn,Zachary F. Pursell,David Malkin,Uri Tabori,Adam Shlien +63 more
TL;DR: An extensive assessment of mutation burden through sequencing analysis of >81,000 tumors from pediatric and adult patients, including tumors with hypermutation caused by chemotherapy, carcinogens, or germline alterations, uncovered new driver mutations in the replication-repair-associated DNA polymerases and a distinct impact of microsatellite instability and replication repair deficiency on the scale of mutation load.
Journal ArticleDOI
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)
Katharina Wimmer,Christian P. Kratz,Hans F. A. Vasen,Olivier Caron,Chrystelle Colas,Chrystelle Colas,Natacha Entz-Werle,Anne-Marie Gerdes,Yael Goldberg,Denisa Ilencikova,Martine Muleris,Martine Muleris,Alex Duval,Alex Duval,Noémie Lavoine,Clara Ruiz-Ponte,Irene Slavc,Brigit Burkhardt,Laurence Brugières +18 more
TL;DR: It is expected that application of the suggested strategy for CMMRD diagnosis will increase the number of patients being identified at the time when they develop their first tumour, allowing adjustment of the treatment modalities, offering surveillance strategies for second malignancies and appropriate counselling of the entire family.
Journal ArticleDOI
Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?
Katharina Wimmer,Julia Etzler +1 more
TL;DR: The genetic, clinical and pathological findings of the so far 78 reported patients of 46 families suffering from this recessively inherited cancer syndrome are summarised.
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Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice‐site disruption
Katharina Wimmer,Xavier Roca,H. Beiglböck,Tom Callens,J. Etzler,Atmakuri Ramakrishna Rao,Atmakuri Ramakrishna Rao,Adrian R. Krainer,Christa Fonatsch,Ludwine Messiaen +9 more
TL;DR: This study provides valuable predictors for the splicing pathway used upon 5′ss mutation, and underscores the importance of using RNA‐based techniques, together with methods to identify microdeletions and intragenic copy‐number changes, for effective and reliable NF1 mutation detection.
Journal ArticleDOI
Amplification and Overexpression of the IGF2 Regulator PLAG1 in Hepatoblastoma
Andrea Zatkova,Jean Marie Rouillard,Wolfgang Hartmann,Barbara J. Lamb,Rork Kuick,Markus Eckart,Dietrich von Schweinitz,Arend Koch,Christa Fonatsch,Torsten Pietsch,Sam M. Hanash,Katharina Wimmer +11 more
TL;DR: The results provide evidence that PLAG1 overexpression may be responsible for the frequently observed up‐regulation of IGF2 in hepatoblastoma and therefore may be implicated in the molecular pathogenesis of this childhood neoplasia.