Publicaciones en colaboración con investigadores/as de Radboud University Nijmegen Medical Centre (2)

2015

  1. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations

    Human Molecular Genetics, Vol. 24, Núm. 14, pp. 4037-4048

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