Publicaciones en colaboración con investigadores/as de Instituto de Salud Carlos III (24)

2023

  1. Posterior Polymorphous Corneal Dystrophy in a Patient with a Novel ZEB1 Gene Mutation

    International Journal of Molecular Sciences, Vol. 24, Núm. 1

2022

  1. Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study

    International Journal of Molecular Sciences, Vol. 23, Núm. 8

  2. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

    Frontiers in Genetics, Vol. 13

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

    Scientific Reports, Vol. 11, Núm. 1

  3. Molecular and histologic insights on early onset cardiomyopathy in Danon disease females

    Clinical Genetics

  4. Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes

    HemaSphere, Vol. 5, Núm. 4

2020

  1. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8

2019

  1. Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

    Journal of Experimental Medicine, Vol. 216, Núm. 2, pp. 407-418

2018

  1. CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

    Genetics in Medicine, Vol. 20, Núm. 8, pp. 882-889

  2. Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

    Clinical Endocrinology, Vol. 88, Núm. 6, pp. 820-829

2017

  1. Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants

    Clinical Genetics

  2. Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

    PLoS ONE, Vol. 12, Núm. 2

  3. Pitfalls of trio-based exome sequencing: Imprinted genes and parental mosaicism - MAGEL2 as an example

    Genetics in Medicine

2016

  1. Clinical and molecular analyses of Beckwith–Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 10, pp. 2740-2749

  2. Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 6, pp. 1595-1599

2015

  1. Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 5, pp. 1018-1025

  2. PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

    European Journal of Human Genetics, Vol. 23, Núm. 12, pp. 1615-1626

2014

  1. A new overgrowth syndrome is due to mutations in RNF125

    Human Mutation, Vol. 35, Núm. 12, pp. 1436-1441

  2. Involvement of LCA5 in leber congenital amaurosis and retinitis pigmentosa in the Spanish population

    Ophthalmology, Vol. 121, Núm. 1, pp. 399-407