Publicaciones en colaboración con investigadores/as de Instituto de Investigaciones Biomédicas Alberto Sols (40)

2023

  1. A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies

    American Journal of Medical Genetics, Part A, Vol. 191, Núm. 1, pp. 100-107

2022

  1. Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia

    American Journal of Human Genetics, Vol. 109, Núm. 10, pp. 1828-1849

2020

  1. A six-attribute classification of genetic mosaicism

    Genetics in Medicine, Vol. 22, Núm. 11, pp. 1743-1757

  2. Carbon Nanotubes in Biomedicine

    Topics in Current Chemistry, Vol. 378, Núm. 1

  3. 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

  4. Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

    American Journal of Human Genetics, Vol. 107, Núm. 5, pp. 977-988

  5. Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

    Human Mutation, Vol. 41, Núm. 1, pp. 265-276

  6. Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

    American Journal of Human Genetics, Vol. 107, Núm. 5, pp. 989-999

2019

  1. MRX93 syndrome (BRWD3 gene): five new patients with novel mutations

    Clinical Genetics, Vol. 95, Núm. 6, pp. 726-731

  2. Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

    Nature Communications, Vol. 10, Núm. 1

2018

  1. CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

    Genetics in Medicine, Vol. 20, Núm. 8, pp. 882-889

  2. Magnetic anisotropy of functionalized multi-walled carbon nanotube suspensions

    Carbon, Vol. 131, pp. 229-237

2017

  1. GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome

    Human Molecular Genetics, Vol. 26, Núm. 23, pp. 4556-4571

2015

  1. Coarse-grained molecular dynamics simulation of water diffusion in the presence of carbon nanotubes

    Journal of Molecular Graphics and Modelling, Vol. 62, pp. 69-73

  2. Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 6, pp. 1323-1329

  3. Magnetoliposomes loaded with poly-unsaturated fatty acids as novel theranostic anti-inflammatory formulations

    Theranostics, Vol. 5, Núm. 5, pp. 489-503

2014

  1. Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

    American Journal of Medical Genetics, Part A, Vol. 164, Núm. 5, pp. 1143-1150

2013

  1. BMP1 Mutations in Autosomal Recessive Osteogenesis Imperfecta

    Osteogenesis Imperfecta: A Translational Approach to Brittle Bone Disease (Elsevier Inc.), pp. 181-186

  2. Critical role of the death receptor pathway in the antitumoral effects induced by hispanolone derivatives

    Oncogene, Vol. 32, Núm. 2, pp. 259-268

  3. OSX/SP7 Mutations and Osteogenesis Imperfecta

    Osteogenesis Imperfecta: A Translational Approach to Brittle Bone Disease (Elsevier Inc.), pp. 173-179