Publicacións en colaboración con investigadores/as de Klinikum der Universität München (3)

2022

  1. Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group

    European Journal of Human Genetics, Vol. 30, Núm. 9, pp. 1051-1059

2017

  1. Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis

    International Journal of Cancer, Vol. 141, Núm. 7, pp. 1365-1380

2014

  1. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

    Nature Genetics, Vol. 46, Núm. 2, pp. 107-115