Publicaciones en colaboración con investigadoras/es de University of Pennsylvania (13)

2022

  1. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

    Genetics in Medicine, Vol. 24, Núm. 11, pp. 2351-2366

2021

  1. 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

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

    Scientific Reports, Vol. 11, Núm. 1

  3. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

  4. Transcription-mediated supercoiling regulates genome folding and loop formation

    Molecular Cell, Vol. 81, Núm. 15, pp. 3065-3081.e12

2020

  1. Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

    Hormone Research in Paediatrics, Vol. 93, Núm. 3, pp. 182-196

2018

  1. Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement

    Nature Reviews Endocrinology, Vol. 14, Núm. 8, pp. 476-500

  2. Long Interleukin-22 Binding Protein Isoform-1 Is an Intracellular Activator of the Unfolded Protein Response

    Frontiers in immunology, Vol. 9, pp. 2934

2017

  1. Fundamental constraints in synchronous muscle limit superfast motor control in vertebrates

    eLife, Vol. 6

2013

  1. The octamer is the major form of CENP-A nucleosomes at human centromeres

    Nature Structural and Molecular Biology, Vol. 20, Núm. 6, pp. 687-695

2007

  1. Fibroblast adaptation and stiffness matching to soft elastic substrates

    Biophysical Journal, Vol. 93, Núm. 12, pp. 4453-4461

2005

  1. Membrane deformations induced by the matrix protein of vesicular stomatitis virus in a minimal system

    Journal of General Virology, Vol. 86, Núm. 12, pp. 3357-3363

2004

  1. Membrane Fusion Induced by the Catalytic Activity of a Phospholipase C/Sphingomyelinase from Listeria monocytogenes

    Biochemistry, Vol. 43, Núm. 12, pp. 3688-3695