The Tyrolean Founder MLH1 Variant c.836T>G Causes Lynch Syndrome Due to a Leaky Splice Effect
Sukanya Horpaopan, Esther Schamschula, Heidi Fiegl, Hannes Dapoz et autres
at, th (code pays fourni par la source)
0 citations
Biomolecules
Katharina Wimmer
Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.
173Publications signalées
7531Citations signalées
4Affiliations récentes
Les institutions déclarées
Les domaines associés
Genetic factors in colorectal cancerNeurofibromatosis and Schwannoma CasesCancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalitiesGenomics and Rare Diseases
Les publications récentes
The impact of international care networks on the clinical management of constitutional mismatch repair deficiency (CMMRD): a review of recent developments
Hans F. A. Vasen, Katharina Wimmer, Mariëtte van Kouwen, Léa Guerrini‐Rousseau et autres
nl, at, fr, ca (code pays fourni par la source)
0 citations
Familial Cancer
Hereditary cancer: Germline testing practices across ERN GENTURIS member countries
Milena Kiljańczyk, Zanda Daneberga, Mikk Tooming, Katarzyna Urbańczyk et autres
it, pl, lv, ee, nl, fi, cz, se, hu, si, at, be, dk, fr, de, gr, no, es (code pays fourni par la source)
2 citations
European Journal of Human Genetics
HiFi sequencing accurately identifies clinically relevant variants in paralogous genes
Bart van der Sanden, Christian Betz, Kate Herzog, Esther Schamschula et autres
nl, at, de, us (code pays fourni par la source)
0 citations
The American Journal of Human Genetics
Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries
Kathrin Taxer, Katharina Wimmer, Karin Wadt, Simon Schnaiter et autres
at, dk, se, nl, be, cz, fi, ee, de, si, it, pt, lu, no (code pays fourni par la source)
1 citation
European Journal of Human Genetics
Abstract PS2-07-11: The improved long-term outcome in denosumab-treated postmenopausal women with early luminal breast cancer in Abcsg 18 is driven by progesterone receptor-positive tumors
C. Singer, Dominik Hlauschek, D. Egle, A. Reiner et autres
at, de, us (code pays fourni par la source)
0 citations
Clinical Cancer Research
Abstract PS2-07-21: Tumor Necrosis Factor-related Weak Inducer of Apoptosis (TWEAK) - A Potential Biomarker for Predicting Response and Long-Term Outcomes in Early Breast Cancer Patients
Katharina Wimmer, Dominik Hlauschek, A. E. Rauch, Monika Sachet et autres
at (code pays fourni par la source)
0 citations
Clinical Cancer Research
Somatic KRASG12V-Variant as a Driver for Localized Hypertrophic Neuropathy Mimicking Plexiform Neurofibroma
Pia Vaassen, Thorsten Simon, Boris Decarolis, Katharina Wimmer et autres
de, at (code pays fourni par la source)
0 citations
Neuropediatrics
Reporting Practices for Secondary Findings among ERN GENTURIS Member Institutions in 15 European Countries
Gunda Schwaninger, Kathrin Taxer, Katharina Wimmer, Karin Wadt et autres
at, dk, de (code pays fourni par la source)
1 citation
Research Square
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
Kathleen Claes, Surya P. Rednam, Dinel Pond, Alesha D. Hicks et autres
us (code pays fourni par la source)
0 citations
Carolina Digital Repository (University of North Carolina at Chapel Hill)
Correction: 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
Katharina Wimmer, Carey McDougall, G. Bradley Schaefer, Rianne Oostenbrink et autres
us (code pays fourni par la source)
0 citations
Carolina Digital Repository (University of North Carolina at Chapel Hill)
BRCA loss of function including BRCA1 DNA-methylation, but not BRCA-unrelated homologous recombination deficiency, is associated with platinum hypersensitivity in high-grade ovarian cancer
Heidi Fiegl, Simon Schnaiter, Daniel Reimer, Katharina Leitner et autres
at (code pays fourni par la source)
12 citations
Clinical Epigenetics
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