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

2023

  1. BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis

    Gastroenterology, Vol. 165, Núm. 1, pp. 162-172.e5

2022

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

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

2019

  1. Early colorectal cancers provide new evidence for a lynch syndrome-to-CMMRD phenotypic continuum

    Cancers, Vol. 11, Núm. 8

2017

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

    Scientific Reports, Vol. 7, Núm. 1

2015

  1. Exome-wide pharmacogenomic analysis of response to thiopurines in inflammatory bowel disease patients

    Current Pharmacogenomics and Personalized Medicine, Vol. 13, Núm. 1, pp. 61-67

  2. Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11

    Applied and Translational Genomics, Vol. 5, pp. 33-36

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

2011

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

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

2006

  1. Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation

    Neuromuscular Disorders, Vol. 16, Núm. 8, pp. 498-503