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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 ovarian cancer Fiegl, Heidelinde; Schnaiter, Simon; Reimer, Daniel U.; Leitner, Katharina; Nardelli, Petra; Tsibulak, Irina; Wieser, Verena; Wimmer, Katharina; Schamschula, Esther; Marth, Christian; Zeimet, Alain G. Share Save
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Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants Gallon, Richard; Brekelmans, Carlijn; Martin, Marie; Bours, Vincent; Schamschula, Esther; Amberger, Albert; Muleris, Martine; Colas, Chrystelle; Dekervel, Jeroen; De Hertogh, Gert; Coupier, Jerome; Colleye, Orphal; Sepulchre, Edith; Burn, John; Brems, Hilde; Legius, Eric; Wimmer, Katharina Share Save
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2 Hinic, Snezana; Cybulski, Cezary; Van der Post, Rachel S.; Vos, Janet R.; Schuurs-Hoeijmakers, Janneke; Brugnoletti, Fulvia; Koene, Saskia; Vreede, Lilian; van Zelst-Stams, Wendy A. G.; Kets, C. Marleen; Haadsma, Maaike; Spruijt, Liesbeth; Wevers, Marijke R.; Evans, D. Gareth; Wimmer, Katharina; Schnaiter, Simon; Volk, Alexander E.; Mollring, Anna; de Putter, Robin; Soikkonen, Leila; Kahre, Tiina; Tooming, Mikk; de Jong, Mirjam M.; Vaz, Fatima; Mensenkamp, Arjen R.; Genuardi, Maurizio; Lubinski, Jan; Ligtenberg, Marjolijn; Hoogerbrugge, Nicoline; de Voer, Richarda M. Share Save
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency Marin, Fatima; Canet-Hermida, Julia; Bianchi, Vanessa; Chung, Jiil; Wimmer, Katharina; Foulkes, William; Perez-Alonso, Vanesa; Dominguez-Pinilla, Nerea; Sabado, Constantino; Vazquez-Gomez, Felisa; Molines, Antonio; Fioravantti, Victoria; Carrasco, Estela; Stengs, Lucie; Edwards, Melissa; Negm, Logine; Das, Anirban; Aronson, Melyssa; Pastor, Angela; Rueda, Daniel; Gonzalez-Granado, Luis Ignacio; Tabori, Uri; Capella, Gabriel; Pineda, Marta Share Save
Gonadal and gonadosomatic mosaicism in NF1: report of two families Seidl-Philipp, Magdalena; Veyt, Nathalie; Schnaiter, Simon; Krogsdam, Anne; Schwendinger, Simon; Maertens, Ophelia; Fauth, Christine; Schmuth, Matthias; Legius, Eric; Wimmer, Katharina; Brems, Hilde Share Save
Gonadal and gonadosomatic mosaicism in NF1: report of two families Seidl-Philipp, Magdalena; Veyt, Nathalie; Schnaiter, Simon; Krogsdam, Anne; Schwendinger, Simon; Maertens, Ophelia; Fauth, Christine; Schmuth, Matthias; Legius, Eric; Wimmer, Katharina; Brems, Hilde Share Save
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Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency Gallon, Richard; Phelps, Rachel; Hayes, Christine; Brugieres, Laurence; Guerrini-Rousseau, Lea; Colas, Chrystelle; Muleris, Martine; Ryan, Neil A. J.; Evans, D. Gareth; Grice, Hannah; Jessop, Emily; Kunzemann-Martinez, Annabel; Marshall, Lilla; Schamschula, Esther; Oberhuber, Klaus; Azizi, Amedeo A.; Feldman, Hagit Baris; Beilken, Andreas; Brauer, Nina; Brozou, Triantafyllia; Dahan, Karin; Demirsoy, Ugur; Florkin, Benoit; Foulkes, William; Januszkiewicz-Lewandowska, Danuta; Jones, Kristi J.; Kratz, Christian P.; Lobitz, Stephan; Meade, Julia; Nathrath, Michaela; Pander, Hans-Jurgen; Perne, Claudia; Ragab, Iman; Ripperger, Tim; Rosenbaum, Thorsten; Rueda, Daniel; Sarosiek, Tomasz; Sehested, Astrid; Spier, Isabel; Suerink, Manon; Zimmermann, Stefanie-Yvonne; Zschocke, Johannes; Borthwick, Gillian M.; Wimmer, Katharina; Burn, John; Jackson, Michael S.; Santibanez-Koref, Mauro Share Save
High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency Ghorbanoghli, Zeinab; van Kouwen, Mariette; Versluys, Birgitta; Bonnet, Delphine; Devalck, Christine; Tinat, Julie; Januszkiewicz-Lewandowska, Danuta; Costas, Consuelo Calvino; Cottereau, Edouard; Hardwick, James C. H.; Wimmer, Katharina; Brugieres, Laurence; Colas, Chrystelle; Vasen, Hans F. A. Share Save
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation Plotkin, Scott R.; Messiaen, Ludwine; Legius, Eric; Pancza, Patrice; Avery, Robert A.; Blakeley, Jaishri O.; Babovic-Vuksanovic, Dusica; Ferner, Rosalie; Fisher, Michael J.; Friedman, Jan M.; Giovannini, Marco; Gutmann, David H.; Hanemann, Clemens Oliver; Kalamarides, Michel; Kehrer-Sawatzki, Hildegard; Korf, Bruce R.; Mautner, Victor-Felix; MacCollin, Mia; Papi, Laura; Rauen, Katherine A.; Riccardi, Vincent; Schorry, Elizabeth; Smith, Miriam J.; Stemmer-Rachamimov, Anat; Stevenson, David A.; Ullrich, Nicole J.; Viskochil, David; Wimmer, Katharina; Yohay, Kaleb; Huson, Susan M.; Wolkenstein, Pierre; Evans, D. Gareth Share Save
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency Sehested, Astrid; Meade, Julia; Scheie, David; Ostrup, Olga; Bertelsen, Birgitte; Misiakou, Maria Anna; Sarosiek, Tomasz; Kessler, Elena; Melchior, Linea C.; Munch-Petersen, Helga Fibiger; Pai, Reetesh K.; Schmuth, Matthias; Gottschling, Hendrik; Zschocke, Johannes; Gallon, Richard; Wimmer, Katharina Share Save
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation Legius, Eric; Messiaen, Ludwine; Wolkenstein, Pierre; Pancza, Patrice; Avery, Robert A.; Berman, Yemima; Blakeley, Jaishri; Babovic-Vuksanovic, Dusica; Cunha, Karin Soares; Ferner, Rosalie; Fisher, Michael J.; Friedman, Jan M.; Gutmann, David H.; Kehrer-Sawatzki, Hildegard; Korf, Bruce R.; Mautner, Victor-Felix; Peltonen, Sirkku; Rauen, Katherine A.; Riccardi, Vincent; Schorry, Elizabeth; Stemmer-Rachamimov, Anat; Stevenson, David A.; Tadini, Gianluca; Ullrich, Nicole J.; Viskochil, David; Wimmer, Katharina; Yohay, Kaleb; Huson, Susan M.; Evans, D. Gareth; Plotkin, Scott R. Share Save
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenicNF1/SPRED1variant negative children suspected of sporadic neurofibromatosis type 1 Perez-Valencia, Juan A.; Gallon, Richard; Chen, Yunjia; Koch, Jakob; Keller, Markus; Oberhuber, Klaus; Gomes, Alicia; Zschocke, Johannes; Burn, John; Jackson, Michael S.; Santibanez-Koref, Mauro; Messiaen, Ludwine; Wimmer, Katharina Share Save
AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG-dinucleotides Wimmer, Katharina; Schamschula, Esther; Wernstedt, Annekatrin; Traunfellner, Pia; Amberger, Albert; Zschocke, Johannes; Kroisel, Peter; Chen, Yunjia; Callens, Tom; Messiaen, Ludwine Share Save
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