Publicaciones en colaboración con investigadores/as de University of Cambridge (6)

2022

  1. Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome

    Journal of Medical Genetics, Vol. 59, Núm. 3, pp. 253-261

2019

  1. MethylCal: Bayesian calibration of methylation levels

    Nucleic acids research, Vol. 47, Núm. 14, pp. e81

2018

  1. DNA methylation in childhood asthma: an epigenome-wide meta-analysis

    The Lancet Respiratory Medicine, Vol. 6, Núm. 5, pp. 379-388

2015

  1. Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers

    Nature Genetics, Vol. 47, Núm. 4, pp. 381-386

  2. Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

    Clinical Epigenetics, Vol. 7, Núm. 1

2012

  1. Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

    Nature Genetics