Publicacións en colaboración con investigadores/as de Instituto de Investigación Sanitaria Gregorio Marañón (12)

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

2022

  1. Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4)

    Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 23, Núm. 1-2, pp. 25-34

  2. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

  3. Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study

    Journal of Neurology, Vol. 269, Núm. 6, pp. 3189-3203

2021

  1. Cognitive functioning throughout adulthood and illness stages in individuals with psychotic disorders and their unaffected siblings

    Molecular Psychiatry, Vol. 26, Núm. 8, pp. 4529-4543

  2. Exploring the biological role of postzygotic and germinal de novo mutations in ASD

    Scientific Reports, Vol. 11, Núm. 1

  3. Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4

    Journal of Neurology, Vol. 268, Núm. 7, pp. 2429-2440

2020

  1. Psychiatric comorbidities in Asperger syndrome are related with polygenic overlap and differ from other Autism subtypes

    Translational Psychiatry, Vol. 10, Núm. 1

2017

  1. Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy

    PLoS ONE, Vol. 12, Núm. 8

  2. Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants

    Molecular Diagnosis and Therapy, Vol. 21, Núm. 3, pp. 303-313

2014

  1. Replication of previous genome-wide association studies of psychiatric diseases in a large schizophrenia case-control sample from Spain

    Schizophrenia Research, Vol. 159, Núm. 1, pp. 107-113

2013

  1. A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12

    BMC Genomics, Vol. 14, Núm. 1