Publications (78) Publications de BLANCA GENER QUEROL

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

  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

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. 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

  4. PIGN encephalopathy: Characterizing the epileptology

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

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

    Scientific Reports, Vol. 11, Núm. 1

2020

  1. Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

    European Journal of Human Genetics, Vol. 28, Núm. 4, pp. 469-479

  2. Primrose syndrome: Characterization of the phenotype in 42 patients

    Clinical Genetics, Vol. 97, Núm. 6, pp. 890-901

  3. Targeted next-generation sequencing in patients with suggestive X-linked intellectual disability

    Genes, Vol. 11, Núm. 1

  4. The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil

    Mutation Research - Genetic Toxicology and Environmental Mutagenesis, Vol. 852

2019

  1. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome (Genetics in Medicine, (2019), 21, 6, (1295-1307), 10.1038/s41436-018-0330-z)

    Genetics in Medicine

  2. Suitability and limitations of mesenchymal stem cells to elucidate human bone illness

    World Journal of Stem Cells, Vol. 11, Núm. 9, pp. 578-593