Katharina Wimmer (K Wimmer)

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 14

Top Venues

Human mutation

Cancers

Journal of medical genetics

NPJ precision oncology

This page only lists publications with an associated author ORCID identifier.

Publications

Richard Gallon, Carlijn Brekelmans, Marie Martin, Vincent Bours, Esther Schamschula, Albert Amberger, Martine Muleris, Chrystelle Colas, Jeroen Dekervel, Gert De Hertogh, Jérôme Coupier, Orphal Colleye, Edith Sepulchre, John Burn, Hilde Brems, Eric Legius, Katharina Wimmer
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants. NPJ precision oncology 8 (1) (2024)
Simon Schnaiter, Esther Schamschula, Juliane Laschtowiczka, Heidelinde Fiegl, Johannes Zschocke, Alain Zeimet, Katharina Wimmer, Daniel Reimer
Stratification of Homologous Recombination Deficiency-Negative High-Grade Ovarian Cancer by the Type of Peritoneal Spread into Two Groups with Distinct Survival Outcomes. Cancers 16 (11) (2024)
Richard Gallon, Carlijn Brekelmans, Marie Martin, Vincent Bours, Esther Schamschula, Albert Amberger, Martine Muleris, Chrystelle Colas, Jeroen Dekervel, Gert De Hertogh, Jérôme Coupier, Orphal Colleye, Edith Sepulchre, John Burn, Hilde Brems, Eric Legius, Katharina Wimmer
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants. NPJ precision oncology 8 (1) (2024)
Simon Schnaiter, Esther Schamschula, Juliane Laschtowiczka, Heidelinde Fiegl, Johannes Zschocke, Alain Zeimet, Katharina Wimmer, Daniel Reimer
Stratification of Homologous Recombination Deficiency-Negative High-Grade Ovarian Cancer by the Type of Peritoneal Spread into Two Groups with Distinct Survival Outcomes. Cancers 16 (11) (2024)
Zeinab Ghorbanoghli, Mariëtte van Kouwen, Birgitta Versluys, Delphine Bonnet, Christine Devalck, Julie Tinat, Danuta Januszkiewicz-Lewandowska, Consuelo Calvino Costas, Edouard Cottereau, James C H Hardwick, Katharina Wimmer, Laurence Brugieres, Chrystelle Colas, Hans F A Vasen
High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency. Journal of medical genetics (2022)
Esther Schamschula, Miriam Kinzel, Annekatrin Wernstedt, Klaus Oberhuber, Hendrik Gottschling, Simon Schnaiter, Nicolaus Friedrichs, Sabine Merkelbach-Bruse, Johannes Zschocke, Richard Gallon, Katharina Wimmer
Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis. Biomolecules 12 (10) (2022)
Astrid Sehested, Julia Meade, David Scheie, Olga Østrup, Birgitte Bertelsen, Maria Anna Misiakou, Tomasz Sarosiek, Elena Kessler, Linea C Melchior, Helga Fibiger Munch-Petersen, Reetesh K Pai, Matthias Schmuth, Hendrik Gottschling, Johannes Zschocke, Richard Gallon, Katharina Wimmer
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency. Human mutation (2021)
Katharina Wimmer, Esther Schamschula, Annekatrin Wernstedt, Pia Traunfellner, Albert Amberger, Johannes Zschocke, Peter Kroisel, Yunjia Chen, Tom Callens, Ludwine M Messiaen
AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides. Human mutation 41 (6) (2020)
Juan A Perez-Valencia, Richard Gallon, Yunjia Chen, Jakob Koch, Markus Keller, Klaus Oberhuber, Alicia Gomes, Johannes Zschocke, John Burn, Michael S Jackson, Mauro Santibanez-Koref, Ludwine Messiaen, Katharina Wimmer
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1. Genetics in medicine : official journal of the American College of Medical Genetics 22 (12) (2020)
Li Fang, Charlly Kao, Michael V Gonzalez, Fernanda A Mafra, Renata Pellegrino da Silva, Mingyao Li, Sören-Sebastian Wenzel, Katharina Wimmer, Hakon H Hakonarson, Kai Wang
LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data. Nature communications 10 (1) (2019)
Léa Guerrini-Rousseau, Manon Suerink, Jacques Grill, Eric Legius, Katharina Wimmer, Laurence Brugieres
Patients with High-Grade Gliomas and Café-au-Lait Macules: Is Neurofibromatosis Type 1 the Only Diagnosis? AJNR. American journal of neuroradiology 40 (6) (2019)
Richard Gallon, Barbara Mühlegger, Sören-Sebastian Wenzel, Harsh Sheth, Christine Hayes, Stefan Aretz, Karin Dahan, William D Foulkes, Christian P Kratz, Tim Ripperger, Amedeo A Azizi, Hagit Baris Feldman, Anne-Laure Chong, Ugur Demirsoy, Benoît Florkin, Thomas Imschweiler, Danuta Januszkiewicz-Lewandowska, Stephan Lobitz, Michaela Nathrath, Hans-Jürgen Pander, Vanesa Perez-Alonso, Claudia Perne, Iman Ragab, Thorsten Rosenbaum, Daniel Rueda, Markus G Seidel, Manon Suerink, Julia Taeubner, Stefanie-Yvonne Zimmermann, Johannes Zschocke, Gillian M Borthwick, John Burn, Michael S Jackson, Mauro Santibanez-Koref, Katharina Wimmer
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes. Human mutation 40 (5) (2019)
Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D Hicks, Angela Sharp, Eric Johns, Kim Armfield Uhas, Linlea Armstrong, Katherine Armstrong Bosanko, Dusica Babovic-Vuksanovic, Laura Baker, Donald G Basel, Mario Bengala, James T Bennett, Chelsea Chambers, Lola K Clarkson, Maurizio Clementi, Fanny M Cortés, Mitch Cunningham, M Daniela D'Agostino, Martin B Delatycki, Maria C Digilio, Laura Dosa, Silvia Esposito, Stephanie Fox, Mary-Louise Freckmann, Christine Fauth, Teresa Giugliano, Sandra Giustini, Allison Goetsch, Yael Goldberg, Robert S Greenwood, Cristin Griffis, Karen W Gripp, Punita Gupta, Eric Haan, Rachel K Hachen, Tamara L Haygarth, Concepción Hernández-Chico, Katelyn Hodge, Robert J Hopkin, Louanne Hudgins, Sandra Janssens, Kory Keller, Geraldine Kelly-Mancuso, Aaina Kochhar, Bruce R Korf, Andrea M Lewis, Jan Liebelt, Angie Lichty, Robert H Listernick, Michael J Lyons, Isabelle Maystadt, Mayra Martinez Ojeda, Carey McDougall, Lesley K McGregor, Daniela Melis, Nancy Mendelsohn, Malgorzata J M Nowaczyk, June Ortenberg, Karin Panzer, John G Pappas, Mary Ella Pierpont, Giulio Piluso, Valentina Pinna, Eniko K Pivnick, Dinel A Pond, Cynthia M Powell, Caleb Rogers, Noa Ruhrman Shahar, S Lane Rutledge, Veronica Saletti, Sarah A Sandaradura, Claudia Santoro, Ulrich A Schatz, Allison Schreiber, Daryl A Scott, Elizabeth A Sellars, Ruth Sheffer, Elizabeth Siqveland, John M Slopis, Rosemarie Smith, Alberto Spalice, David W Stockton, Haley Streff, Amy Theos, Gail E Tomlinson, Grace Tran, Pamela L Trapane, Eva Trevisson, Nicole J Ullrich, Jenneke Van den Ende, Samantha A Schrier Vergano, Stephanie E Wallace, Michael F Wangler, David D Weaver, Kaleb H Yohay, Elaine Zackai, Jonathan Zonana, Vickie Zurcher, Kathleen B M Claes, Marica Eoli, Yolanda Martin, Katharina Wimmer, Alessandro De Luca, Eric Legius, Ludwine M Messiaen
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. Human mutation 41 (1) (2019)
Helen Toledano, Naama Orenstein, Efrat Sofrin, Noa Ruhrman-Shahar, Gil Amarilyo, Lina Basel-Salmon, Alan R Shuldiner, Pola Smirin-Yosef, Melyssa Aronson, Hibs Al-Tarrah, Lili Bazak, Claudia Gonzaga-Jauregui, Uri Tabori, Katharina Wimmer, Yael Goldberg
Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency. Journal of medical genetics 57 (7) (2019)

Katharina Wimmer.css-eqlu8i{font-size:small;padding-left:4px;} (K Wimmer)

Publication Activity (10 Years)

Top Topics

Top Venues

Katharina Wimmer (K Wimmer)