Publications (104) Publications in which a researcher has participated

2024

  1. Galunisertib downregulates mutant type I collagen expression and promotes MSCs osteogenesis in pediatric osteogenesis imperfecta

    Biomedicine and Pharmacotherapy, Vol. 175

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

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

  3. Identification of copy-number variants in patients with overgrowth disorders

    Clinical Genetics, Vol. 106, Núm. 5, pp. 614-624

  4. Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro

    Cell and Tissue Research, Vol. 396, Núm. 2, pp. 255-267

2023

  1. Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas

    Translational Pediatrics, Vol. 12, Núm. 9, pp. 1715-1724

  2. 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

  3. Murine Animal Models in Osteogenesis Imperfecta: The Quest for Improving the Quality of Life

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

2022

  1. Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia

    Journal of Medical Genetics, Vol. 59, Núm. 5, pp. 428-437

  2. Circulating TGF-β Pathway in Osteogenesis Imperfecta Pediatric Patients Subjected to MSCs-Based Cell Therapy

    Frontiers in Cell and Developmental Biology, Vol. 10

  3. E2f2 attenuates apoptosis of activated t lymphocytes and protects from immune‐mediated injury through repression of fas and fasl

    International Journal of Molecular Sciences, Vol. 23, Núm. 1

  4. Educating EVs to Improve Bone Regeneration: Getting Closer to the Clinic

    International Journal of Molecular Sciences, Vol. 23, Núm. 3

  5. FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

    Genetics in Medicine, Vol. 24, Núm. 12, pp. 2475-2486

  6. PIGN encephalopathy: Characterizing the epileptology

    Epilepsia, Vol. 63, Núm. 4, pp. 974-991

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

    Frontiers in Genetics, Vol. 13

2021

  1. Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

    European Heart Journal, Vol. 42, Núm. 32, pp. 3063-3073

  2. 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

  3. Cell and cell-free therapies to counteract human premature and physiological aging: Mscs come to light

    Journal of Personalized Medicine, Vol. 11, Núm. 10

  4. Cutting edge endogenous promoting and exogenous driven strategies for bone regeneration

    International Journal of Molecular Sciences, Vol. 22, Núm. 14

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

    Scientific Reports, Vol. 11, Núm. 1

  6. Murine femur micro-computed tomography and biomechanical datasets for an ovariectomy-induced osteoporosis model

    Scientific Data