Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? von Wimmer, Katharina, Etzler, Julia

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Role of BRCA1 promotor methylation ( BRCA1 meth ) in homologous recombination deficiency (HRD) in high-grade epithelial ovarian cancer von Zeimet, Alain G, Schnaiter, Simon, Reimer, Daniel Uwe, Wimmer, Katharina, Schamschula, Esther, Leitner, Katharina, Steger, Katharina, Marth, Christian, Fiegl, Heidi

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Comprehensive HRD testing in epithelial ovarian cancer: A further step toward personalized therapy decisions von Reimer, Daniel Uwe, Schnaiter, Simon, Wimmer, Katharina, Schamschula, Esther, Leitner, Katharina, Pietzner, Klaus, Sehouli, Jalid, Marth, Christian, Fiegl, Heidi, Zeimet, Alain G

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Dedolomitization: review and case study of uncommon mesogenetic formation conditions von Schoenherr, Johannes, Reuning, Lars, Hallenberger, Maximilian, Lüders, Volker, Lemmens, Laurent, Biehl, Bianca C., Lewin, Anna, Leupold, Maike, Wimmers, Katharina, Strohmenger, Christian J.

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Constitutional mismatch repair-deficiency syndrome von Wimmer, Katharina, Kratz, Christian P

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The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion von Wimmer, Katharina, Callens, Tom, Wernstedt, Annekatrin, Messiaen, Ludwine

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Surgical Lung Biopsy for Interstitial Lung Disease: A Two Center Propensity Score Matching Analysis von Grott, Matthias, Wimmer, Cosmas D., Kreuter, Michael, Prasse, Antje, Eichhorn, Martin E., Eichhorn, Florian, Herth, Felix J.F., Seeliger, Benjamin, Kriegsmann, Katharina, Schmidt, Werner, Koenigsfeld, Katharina, Zardo, Patrick, Winter, Hauke

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BRCA loss of function including BRCA1 DNA-methylation, but not BRCA-unrelated homologous recombination deficiency, is associated with platinum hypersensitivity in high-grade ovaria... von Fiegl, Heidelinde, Schnaiter, Simon, Reimer, Daniel U, Leitner, Katharina, Nardelli, Petra, Tsibulak, Irina, Wieser, Verena, Wimmer, Katharina, Schamschula, Esther, Marth, Christian, Zeimet, Alain G

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Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6 von Taeubner, Julia, Wimmer, Katharina, Muleris, Martine, Lascols, Olivier, Colas, Chrystelle, Fauth, Christine, Brozou, Triantafyllia, Felsberg, Joerg, Riemer, Jasmin, Gombert, Michael, Ginzel, Sebastian, Hoell, Jessica I, Borkhardt, Arndt, Kuhlen, Michaela

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Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium von Guerrini-Rousseau, Léa, Varlet, Pascale, Colas, Chrystelle, Andreiuolo, Felipe, Bourdeaut, Franck, Dahan, Karin, Devalck, Christine, Faure-Conter, Cécile, Genuardi, Maurizio, Goldberg, Yael, Kuhlen, Michaela, Moalla, Salma, Opocher, Enrico, Perez-Alonso, Vanessa, Sehested, Astrid, Slavc, Irene, Unger, Sheila, Wimmer, Katharina, Grill, Jacques, Brugières, Laurence

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PMS2 Gene Mutational Analysis: Direct cDNA Sequencing to Circumvent Pseudogene Interference von Wimmer, Katharina, Wernstedt, Annekatrin

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Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity von Baris, Hagit N., Barnes-Kedar, Inbal, Toledano, Helen, Halpern, Marisa, Hershkovitz, Dov, Lossos, Alexander, Lerer, Israela, Peretz, Tamar, Kariv, Revital, Cohen, Shlomi, Half, Elizabeth E., Magal, Nurit, Drasinover, Valerie, Wimmer, Katharina, Goldberg, Yael, Bercovich, Dani, Levi, Zohar

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PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1 von Vogt, Julia, Wernstedt, Annekatrin, Ripperger, Tim, Pabst, Brigitte, Zschocke, Johannes, Kratz, Christian, Wimmer, Katharina

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Constitutional or biallelic? Settling on a name for a recessively inherited cancer susceptibility syndrome von Wimmer, Katharina, Brugières, Laurence, Duval, Alex, Muleris, Martine, Kratz, Christian P, Vasen, Hans F A

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A universal and constant rate of gene content change traces pangenome flux to LUCA von Trost, Katharina, Knopp, Michael R, Wimmer, Jessica L E, Tria, Fernando D K, Martin, William F

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Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL von Wernstedt, Annekatrin, Valtorta, Emanuele, Armelao, Franco, Togni, Roberto, Girlando, Salvatore, Baudis, Michael, Heinimann, Karl, Messiaen, Ludwine, Staehli, Noemie, Zschocke, Johannes, Marra, Giancarlo, Wimmer, Katharina

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Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity: CMMRD, Founder Mutations, and Consanguinity in Israel von Baris, Hagit N., Barnes-Kedar, Inbal, Toledano, Helen, Halpern, Marisa, Hershkovitz, Dov, Lossos, Alexander, Lerer, Israela, Peretz, Tamar, Kariv, Revital, Cohen, Shlomi, Half, Elizabeth E., Magal, Nurit, Drasinover, Valerie, Wimmer, Katharina, Goldberg, Yael, Bercovich, Dani, Levi, Zohar

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The NF1 gene contains hotspots for LI endonuclease-dependent de novo insertion von Wimmer, Katharina, Callens, Tom, Wernstedt, Annekatrin, Messiaen, Ludwine

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The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion: e1002371 von Wimmer, Katharina, Callens, Tom, Wernstedt, Annekatrin, Messiaen, Ludwine

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Review and update of SPRED1 mutations causing legius syndrome von Brems, Hilde, Pasmant, Eric, Van Minkelen, Rick, Wimmer, Katharina, Upadhyaya, Meena, Legius, Eric, Messiaen, Ludwine

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