Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (49)

2024

  1. Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder

    Clinical Genetics, Vol. 105, Núm. 2, pp. 140-149

  2. Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children

    The Journal of experimental medicine, Vol. 221, Núm. 2

2023

  1. Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease

    Journal of Clinical Medicine, Vol. 12, Núm. 7

  2. Beyond genetics: Deciphering the impact of missense variants in CAD deficiency

    Journal of Inherited Metabolic Disease, Vol. 46, Núm. 6, pp. 1170-1185

  3. Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas

    Nutrients, Vol. 15, Núm. 16

  4. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients

    Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654

  5. Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing

    Molecular Diagnosis and Therapy, Vol. 27, Núm. 1, pp. 105-113

  6. Etiology of avascular necrosis of the hip and shoulder. Screening for Gaucher disease

    Revista Clinica Espanola, Vol. 223, Núm. 1, pp. 17-24

  7. Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders

    Cytogenetic and genome research, Vol. 163, Núm. 5-6, pp. 301-306

  8. Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit

    Journal of Inherited Metabolic Disease, Vol. 46, Núm. 1, pp. 66-75

  9. Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy

    Pediatric Neurology, Vol. 144, pp. 11-15

  10. Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study

    Neurology and Therapy, Vol. 12, Núm. 1, pp. 89-105

2022

  1. An updated view on human neonatal thermogenesis

    Nature Reviews Endocrinology

  2. Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy

    Developmental Medicine and Child Neurology, Vol. 64, Núm. 7, pp. 915-923

  3. Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias

    International Journal of Molecular Sciences, Vol. 23, Núm. 19

  4. The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1

    Clinical Genetics, Vol. 102, Núm. 1, pp. 40-55

2021

  1. Galactokinase deficiency: lessons from the GalNet registry

    Genetics in Medicine, Vol. 23, Núm. 1, pp. 202-210

  2. Paradigmatic de novo grin1 variants recapitulate pathophysiological mechanisms underlying grin1‐related disorder clinical spectrum

    International Journal of Molecular Sciences, Vol. 22, Núm. 23

2020

  1. Bone status in patients with phenylketonuria: A systematic review

    Nutrients, Vol. 12, Núm. 7, pp. 1-15

  2. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

    Brain, Vol. 143, Núm. 10, pp. 2929-2944