Publicaciones en colaboración con investigadores/as de Johns Hopkins University School of Medicine (2)

2022

  1. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

    American Journal of Human Genetics, Vol. 109, Núm. 10, pp. 1867-1884

2020

  1. The variability of SMARCA4-related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes?

    American Journal of Medical Genetics, Part A, Vol. 182, Núm. 9, pp. 2058-2067