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
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: It is demonstrated that individuals with the NF1 p.Met992del pathogenic variant have a mild NF1 phenotype lacking clinically suspected plexiform, cutaneous, or subcutaneous neurofibromas, however, learning difficulties are clearly part of the phenotypic presentation in these individuals and will require specialized care.
Journal ArticleDOI
GAB2 is a novel target of 11q amplification in AML/MDS.
Andrea Zatkova,Claudia Schoch,Frank Speleman,Bruce Poppe,Christine Mannhalter,Christa Fonatsch,Katharina Wimmer +6 more
TL;DR: The adaptor molecule GAB2 that has already been shown to enhance oncogenic signaling in other neoplasias appears as a novel target of 11q amplification in AML/MDS.
Journal ArticleDOI
A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency
Katharina Wimmer,Andreas Beilken,Rainer Nustede,Tim Ripperger,Britta Lamottke,Benno M. Ure,Diana Steinmann,Tanja Reineke-Plaass,Ulrich Lehmann,Johannes Zschocke,Laura Valle,Christine Fauth,Christian P. Kratz +12 more
TL;DR: In a 14-year-old boy with polyposis and rectosigmoid carcinoma, a novel POLE germline mutation is identified, previously found as recurrent somatic mutation in ‘ultramutated’ sporadic cancers, indicating that POLE mutation p.(Val411Leu) may confer a more severe phenotype than previously reported POLE and POLD1 germline mutations.
Journal ArticleDOI
Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.
Magdalena Chmara,Annekatrin Wernstedt,Bartosz Wasag,Bartosz Wasag,Hilde Peeters,Marleen Renard,Eline Beert,Hilde Brems,Tina Giner,Imke Bieber,Henning Hamm,Raf Sciot,Katharina Wimmer,Eric Legius +13 more
TL;DR: Three children who had in addition to CMMR‐D‐associated malignancies multiple pilomatricomas are reported, indicating that CTNNB1 is a target for mutations when mismatch repair is impaired due to biallelic PMS2 mutations.
Journal ArticleDOI
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.
Manon Suerink,Tim Ripperger,Ludwine Messiaen,Fred H. Menko,Franck Bourdeaut,Chrystelle Colas,Marjolijn C.J. Jongmans,Yael Goldberg,Maartje Nielsen,Martine Muleris,Mariëtte C.A. van Kouwen,Irene Slavc,Christian P. Kratz,Hans F. A. Vasen,Laurence Brugiѐres,Eric Legius,Katharina Wimmer +16 more
TL;DR: This work aimed at elaborating a strategy to preselect, among children suspected to have NF1/Legius syndrome without a causativeNF1/SPRED1 mutation and no overt malignancy, those children who have a higher probability of having CMMRD.