Publications in collaboration with researchers from Universitat Pompeu Fabra (4)

2020

  1. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

    Journal of Molecular Diagnostics, Vol. 22, Núm. 9, pp. 1205-1215

2018

  1. Clinical implication of FMR1 intermediate alleles in a Spanish population

    Clinical Genetics, Vol. 94, Núm. 1, pp. 153-158

2011

  1. Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes

    European Journal of Human Genetics, Vol. 19, Núm. 8, pp. 921-923

2007

  1. X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

    BMC Genomics, Vol. 8