Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (15)

2024

  1. Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review

    Pediatric Neurology, Vol. 155, pp. 8-17

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973

  3. Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

    PloS one, Vol. 18, Núm. 7, pp. e0287515

  4. Short stature and scoliosis: Revealing signs of ultrarare skeletal dysplasia

    Anales de Pediatria

  5. Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study

    Scientific Reports, Vol. 13, Núm. 1

2022

  1. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

2021

  1. Familiar hypocalciuric hypercalcemia: Biochemical and genetic characterization of a family

    Medicina Clinica

2019

  1. AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)

    Annals of Neurology, Vol. 85, Núm. 5, pp. 740-751

2018

  1. Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG

    Neuropediatrics, Vol. 49, Núm. 6, pp. 408-413

  2. Stroke-like episodes and cerebellar syndrome in phosphomannomutase deficiency (PMM2-CDG): Evidence for hypoglycosylation-driven channelopathy

    International Journal of Molecular Sciences, Vol. 19, Núm. 2

2017

  1. Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG) (J Inherit Metab Dis, 10.1007/s10545–017–0028-4)

    Journal of Inherited Metabolic Disease

2014

  1. Hemiplejía alternante de la infancia: estudio del gen ATP1A3 en 16 pacientes

    Medicina Clinica, Vol. 143, Núm. 1, pp. 25-28

2008

  1. Vena hemiácigos persistente y ausencia de vena cava inferior intrahepática. ¿Un hallazgo casual?

    Anales de Pediatria

2007

  1. Utilidad de la radiografía de tórax en el soplo cardíacoa

    Anales de Pediatria Continuada, Vol. 5, Núm. 5, pp. 289-293