Publicaciones en colaboración con investigadores/as de Fundación Pública Galega de Medicina Xenómica (20)

2023

  1. A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2

    Human Mutation, Vol. 2023

2022

  1. Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain

    Neurologia, Vol. 37, Núm. 4, pp. 257-262

  2. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

    Communications biology, Vol. 5, Núm. 1, pp. 1061

  3. 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

  4. Erratum: Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk (European journal of human genetics : EJHG (2022) 30 3 (349-362))

    European journal of human genetics : EJHG

  5. How Executive Functions Correlate with Intelligence in Children and Adolescents in Autism Spectrum Disorders

    Journal of Cognition and Development, Vol. 23, Núm. 5, pp. 776-790

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

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

  7. Polygenic risk modeling for prediction of epithelial ovarian cancer risk

    European journal of human genetics : EJHG, Vol. 30, Núm. 3, pp. 349-362

  8. RICORS2040: The need for collaborative research in chronic kidney disease

    Clinical Kidney Journal, Vol. 15, Núm. 3, pp. 372-387

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

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

2020

  1. Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

    American Journal of Human Genetics, Vol. 107, Núm. 5, pp. 837-848

  2. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

    Nature Genetics, Vol. 52, Núm. 1, pp. 56-73

2019

  1. Shared heritability and functional enrichment across six solid cancers

    Nature Communications, Vol. 10, Núm. 1

  2. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

    npj Breast Cancer, Vol. 5, Núm. 1

2017

  1. Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

    Scientific Reports, Vol. 7, Núm. 1

  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

  3. Monosomal karyotype in chronic lymphocytic leukemia: Association with clinical and biological features and potential prognostic significance

    American Journal of Hematology

2013

  1. Risk of cancer in cases of suspected lynch syndrome without germline mutation

    Gastroenterology, Vol. 144, Núm. 5

2012

  1. Axonal neuropathy, long limbs and bumpy tongue: Think of MEN2B

    Muscle and Nerve, Vol. 46, Núm. 6, pp. 961-964