Publicaciones (106) Publicaciones de ELENA VALLESPÍN GARCÍA

2023

  1. OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population

    Current Issues in Molecular Biology, Vol. 45, Núm. 1, pp. 465-478

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

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

  3. Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts

    International Journal of Molecular Sciences, Vol. 24, Núm. 14

  4. Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia

    International Journal of Molecular Sciences, Vol. 24, Núm. 21

  5. Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus

    Genes, Vol. 14, Núm. 10

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. Conceptos de genética molecular

    Nefrología pediátrica (Ediciones de la Universidad de Oviedo), pp. 459-466

  3. Expanding the phenotypic spectrum of pax6 mutations: From congenital cataracts to nystagmus

    Genes, Vol. 12, Núm. 5

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

    Scientific Reports, Vol. 11, Núm. 1

  5. Molecular and genetic mechanism of non-syndromic congenital cataracts. Mutation screening in spanish families

    Genes, Vol. 12, Núm. 4

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

    Clinical Genetics

  7. 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. Central hypothyroidism and novel clinical phenotypes in hemizygous truncation of TBL1X

    Journal of the Endocrine Society, Vol. 3, Núm. 1, pp. 119-128

  2. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

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

  3. Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency

    American Journal of Medical Genetics, Part A, Vol. 179, Núm. 8, pp. 1591-1597

  4. Prorepair-B: A prospective cohort study of the impact of germline DNA repair mutations on the outcomes of patients with metastatic castration-resistant prostate cancer

    Journal of Clinical Oncology, Vol. 37, Núm. 6, pp. 490-503

  5. Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

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