Publicacións en colaboración con investigadores/as de Harvard Medical School (20)

2024

  1. Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes

    Nature Communications, Vol. 15, Núm. 1

  2. Minimal information for studies of extracellular vesicles (MISEV2023): From basic to advanced approaches

    Journal of Extracellular Vesicles, Vol. 13, Núm. 2

2023

  1. Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries (Nature Genetics, (2023), 55, 1, (89-99), 10.1038/s41588-022-01222-9)

    Nature Genetics

  2. Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries

    Nature Genetics, Vol. 55, Núm. 1, pp. 89-99

2021

  1. Characterization and miRNA Profiling of Extracellular Vesicles from Human Osteoarthritic Subchondral Bone Multipotential Stromal Cells (MSCs)

    Stem Cells International, Vol. 2021

  2. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

2019

  1. Developing a network view of type 2 diabetes risk pathways through integration of genetic, genomic and functional data

    Genome Medicine, Vol. 11, Núm. 1

  2. Hypothalamic miR-30 regulates puberty onset via repression of the puberty-suppressing factor, Mkrn3

    PLoS Biology, Vol. 17, Núm. 11

  3. Nicotinamide mononucleotide (NMN) supplementation rescues cerebromicrovascular endothelial function and neurovascular coupling responses and improves cognitive function in aged mice

    Redox Biology, Vol. 24

2018

  1. Erratum to: Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition (Nature Genetics, (2018), 50, 4, (572-580), 10.1038/s41588-018-0088-x)

    Nature Genetics

  2. Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria

    PLoS Genetics, Vol. 14, Núm. 12

  3. Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition

    Nature Genetics, Vol. 50, Núm. 4, pp. 572-580

2015

  1. A new strategy for enhancing imputation quality of rare variants from next-generation sequencing data via combining SNP and exome chip data

    BMC Genomics, Vol. 16, Núm. 1

  2. Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation

    PLoS Genetics, Vol. 11, Núm. 7

  3. Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain

    Heart, Vol. 101, Núm. 13, pp. 1047-1053

2014

  1. Merits and pitfalls of genetic testing in a hypertrophic cardiomyopathy clinic

    Israel Medical Association Journal, Vol. 16, Núm. 11, pp. 707

  2. Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 111, Núm. 36, pp. 13127-13132

2010

  1. Novel missense mutations in exon 15 of desmoglein-2: Role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?

    Heart Rhythm, Vol. 7, Núm. 10, pp. 1446-1453

2009

  1. Planning the human variome project: The Spain report

    Human Mutation, Vol. 30, Núm. 4, pp. 496-510

2005

  1. Gene mutations in apical hypertrophic cardiomyopathy

    Circulation, Vol. 112, Núm. 18, pp. 2805-2811