Publicacións en colaboración con investigadores/as de Instituto de Salud Carlos III (13)

2023

  1. Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

    Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

  3. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

  4. Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

2020

  1. Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

    Human Mutation, Vol. 41, Núm. 1, pp. 265-276

2019

  1. High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  2. New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

    Human Genetics, Vol. 138, Núm. 8-9, pp. 1027-1042

2016

  1. Acute intermittent porphyria in a paediatric population in the region of Murcia: Phenotype and prevalence

    Anales de Pediatria, Vol. 84, Núm. 2, pp. 114-115

2015

  1. Clinical comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 4, pp. 786-790

  2. Schinzel-Giedion syndrome: A new mutation in SETBP1

    Anales de Pediatria, Vol. 82, Núm. 1, pp. e12-e16

2014

  1. Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement

    Genomics, Vol. 103, Núm. 4, pp. 288-291

2012

  1. Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

    Human Mutation, Vol. 33, Núm. 10, pp. 1444-1449