Publications in collaboration with researchers from Università de Roma La Sapienza (3)

2020

  1. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

    Brain, Vol. 143, Núm. 9, pp. 2696-2708

2015

  1. The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades

    Molecular Biology and Evolution, Vol. 32, Núm. 3, pp. 661-673

1999

  1. The A1555G mutation in the 12S rRNA gene of human mtDNA: Recurrent origins and founder events in families affected by sensorineural deafness

    American Journal of Human Genetics, Vol. 65, Núm. 5, pp. 1349-1358