High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
Journal Of Medical Genetics
González-Acosta, Maribel M; Marín, Fátima F; Puliafito, Benjamin B; Bonifaci, Nuria N; Fernández, Anna A; Navarro, Matilde M; Salvador, Hector H; Balaguer, Francesc F; Iglesias, Silvia S; Velasco, Angela A; Grau Garces, Elia E; Moreno, Victor V; Gonzalez-Granado, Luis Ignacio LI; Guerra-García, Pilar P; Ayala, Rosa R; Florkin, Benoît B; Kratz, Christian C; Ripperger, Tim T; Rosenbaum, Thorsten T; Januszkiewicz-Lewandowska, Danuta D; Azizi, Amedeo A AA; Ragab, Iman I; Nathrath, Michaela M; Pander, Hans-Jürgen HJ; Lobitz, Stephan S; Suerink, Manon M; Dahan, Karin K; Imschweiler, Thomas T; Demirsoy, Ugur U; Brunet, Joan J; Lázaro, Conxi C; Rueda, Daniel D; Wimmer, Katharina K; Capellá, Gabriel G; Pineda, Marta M
Colorectal carcinoma with double somatic mismatch repair gene inactivation: clinical and pathological characteristics and response to immune checkpoint blockade.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Wang, Tao T; Lee, Lik Hang LH; Vyas, Monika M; Zhang, Liying L; Ganesh, Karuna K; Firat, Canan C; Segal, Neil H NH; Desai, Avni A; Hechtman, Jaclyn F JF; Ntiamoah, Peter P; Weiser, Martin R MR; Markowitz, Arnold J AJ; Vakiani, Efsevia E; Klimstra, David S DS; Stadler, Zsofia K ZK; Shia, Jinru J
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Human Mutation
Gallon, Richard R; Mühlegger, Barbara B; Wenzel, Sören-Sebastian SS; Sheth, Harsh H; Hayes, Christine C; Aretz, Stefan S; Dahan, Karin K; Foulkes, William W; Kratz, Christian P CP; Ripperger, Tim T; Azizi, Amedeo A AA; Baris Feldman, Hagit H; Chong, Anne-Laure AL; Demirsoy, Ugur U; Florkin, Benoît B; Imschweiler, Thomas T; Januszkiewicz-Lewandowska, Danuta D; Lobitz, Stephan S; Nathrath, Michaela M; Pander, Hans-Jürgen HJ; Perez-Alonso, Vanesa V; Perne, Claudia C; Ragab, Iman I; Rosenbaum, Thorsten T; Rueda, Daniel D; Seidel, Markus G MG; Suerink, Manon M; Taeubner, Julia J; Zimmermann, Stefanie-Yvonne SY; Zschocke, Johannes J; Borthwick, Gillian M GM; Burn, John J; Jackson, Michael S MS; Santibanez-Koref, Mauro M; Wimmer, Katharina K
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.
Frontiers In Immunology
Tesch, Victoria K VK; IJspeert, Hanna H; Raicht, Andrea A; Rueda, Daniel D; Dominguez-Pinilla, Nerea N; Allende, Luis M LM; Colas, Chrystelle C; Rosenbaum, Thorsten T; Ilencikova, Denisa D; Baris, Hagit N HN; Nathrath, Michaela H M MHM; Suerink, Manon M; Januszkiewicz-Lewandowska, Danuta D; Ragab, Iman I; Azizi, Amedeo A AA; Wenzel, Soeren S SS; Zschocke, Johannes J; Schwinger, Wolfgang W; Kloor, Matthias M; Blattmann, Claudia C; Brugieres, Laurence L; van der Burg, Mirjam M; Wimmer, Katharina K; Seidel, Markus G MG
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Comprehensive Genomic Profiling of 282 Pediatric Low- and High-Grade Gliomas Reveals Genomic Drivers, Tumor Mutational Burden, and Hypermutation Signatures.
The Oncologist
Johnson, Adrienne A; Severson, Eric E; Gay, Laurie L; Vergilio, Jo-Anne JA; Elvin, Julia J; Suh, James J; Daniel, Sugganth S; Covert, Mandy M; Frampton, Garrett M GM; Hsu, Sigmund S; Lesser, Glenn J GJ; Stogner-Underwood, Kimberly K; Mott, Ryan T RT; Rush, Sarah Z SZ; Stanke, Jennifer J JJ; Dahiya, Sonika S; Sun, James J; Reddy, Prasanth P; Chalmers, Zachary R ZR; Erlich, Rachel R; Chudnovsky, Yakov Y; Fabrizio, David D; Schrock, Alexa B AB; Ali, Siraj S; Miller, Vincent V; Stephens, Philip J PJ; Ross, Jeffrey J; Crawford, John R JR; Ramkissoon, Shakti H SH