Publicaciones en colaboración con investigadores/as de Università de Roma La Sapienza (7)

2022

  1. Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study

    Journal of Medical Genetics, Vol. 59, Núm. 4, pp. 399-409

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

2010

  1. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

    Human Mutation, Vol. 31, Núm. 5

2008

  1. RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

    Clinical Genetics, Vol. 74, Núm. 2, pp. 164-170

2007

  1. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

    American Journal of Human Genetics, Vol. 81, Núm. 1, pp. 104-113

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