Publicaciones en colaboración con investigadoras/es de Hospital Vall d'Hebron (35)

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

2019

  1. Impact of polymorphisms in apoptosis-related genes on the outcome of childhood acute lymphoblastic leukaemia

    British Journal of Haematology

2018

  1. What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis

    BMC Medical Genetics, Vol. 19, Núm. 1

2017

  1. Diverse Applications of Nanomedicine

    ACS Nano, Vol. 11, Núm. 3, pp. 2313-2381

  2. Stem cell-like transcriptional reprogramming mediates metastatic resistance to mTOR inhibition

    Oncogene, Vol. 36, Núm. 19, pp. 2737-2749

2016

  1. Stratification and therapeutic potential of PML in metastatic breast cancer

    Nature Communications, Vol. 7

2015

  1. A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis

    Human Molecular Genetics, Vol. 24, Núm. 19, pp. 5619-5627

  2. Genome-wide significant association with seven novel multiple sclerosis risk loci

    Journal of Medical Genetics, Vol. 52, Núm. 12, pp. 848-855

  3. Inter-laboratory evaluation of instrument platforms and experimental workflows for quantitative accuracy and reproducibility assessment

    EuPA Open Proteomics, Vol. 8, pp. 6-15

  4. Methodological aspects of the molecular and histological study of prostate cancer: Focus on PTEN

    Methods, Vol. 77, pp. 25-30

2014

  1. Noncoding RNA-related polymorphisms in pediatric acute lymphoblastic leukemia susceptibility

    Pediatric Research, Vol. 75, Núm. 6, pp. 767-773

2013

  1. Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk

    Journal of Medical Genetics, Vol. 50, Núm. 3, pp. 140-143

  2. Guidelines for reporting quantitative mass spectrometry based experiments in proteomics

    Journal of Proteomics, Vol. 95, pp. 84-88

  3. Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis

    Journal of Medical Genetics, Vol. 50, Núm. 1, pp. 25-33

  4. MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis

    Brain, Vol. 136, Núm. 6, pp. 1778-1782

  5. TNFRSF1A polymorphisms rs1800693 and rs4l49584 in patients with multiple sclerosis

    Neurology, Vol. 80, Núm. 22, pp. 2010-2016

2012

  1. A cytokine gene screen uncovers SOCS1 as genetic risk factor for multiple sclerosis

    Genes and Immunity, Vol. 13, Núm. 1, pp. 21-28

  2. ANKRD55 and DHCR7 are novel multiple sclerosis risk loci

    Genes and Immunity, Vol. 13, Núm. 3, pp. 253-257

  3. Analysis of the IL28RA locus as genetic risk factor for multiple sclerosis

    Journal of Neuroimmunology, Vol. 245, Núm. 1-2, pp. 98-101