Publicacións en colaboración con investigadores/as de Fundación Pública Galega de Medicina Xenómica (10)

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

  2. Patient With Relapsing Polychondritis and Cutaneous Nodules Being Followed by the Hematology Department for a Myelodysplastic Syndrome

    Actas Dermo-Sifiliograficas

  3. Two cases of familial glomuvenous malformation and description of a novel pathogenic mutation in glomulin gene (GLMN)

    International Journal of Dermatology

2022

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

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

2021

  1. Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction

    Nature Genetics, Vol. 53, Núm. 1, pp. 65-75

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

    npj Breast Cancer, Vol. 5, Núm. 1

2011

  1. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

    Neuromuscular Disorders, Vol. 21, Núm. 4, pp. 254-262

2005

  1. Autosomal dominant congenital fibre type disproportion: A clinicopathological and imaging study of a large family

    Brain, Vol. 128, Núm. 7, pp. 1716-1727