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