Publicacións en colaboración con investigadores/as de Paris Descartes University (29)

2019

  1. Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2)

    Nature Genetics

  2. Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

    Nature Genetics, Vol. 51, Núm. 3, pp. 414-430

  3. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

    Nature Communications, Vol. 10, Núm. 1

  4. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

    Human Mutation, Vol. 40, Núm. 9, pp. 1557-1578

  5. Odanacatib for the treatment of postmenopausal osteoporosis: results of the LOFT multicentre, randomised, double-blind, placebo-controlled trial and LOFT Extension study

    The Lancet Diabetes and Endocrinology, Vol. 7, Núm. 12, pp. 899-911

  6. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352

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

    npj Breast Cancer, Vol. 5, Núm. 1

  8. Treasures from the Deep: Characellides as Anti-Inflammatory Lipoglycotripeptides from the Sponge Characella pachastrelloides

    Organic Letters, Vol. 21, Núm. 1, pp. 246-251

2018

  1. Circulating tumor cells in breast cancer patients treated by neoadjuvant chemotherapy: A Meta-analysis

    Journal of the National Cancer Institute, Vol. 110, Núm. 6, pp. 560-567

  2. Genetic testing and clinical management practices for variants in non-BRCA1/2 breast (and breast/ovarian) cancer susceptibility genes: An international survey by the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) clinical working group

    JCO Precision Oncology, Vol. 2

2017

  1. Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia

    Nature Communications, Vol. 8

2016

  1. Evidence for treating rheumatoid arthritis to target: Results of a systematic literature search update

    Annals of the Rheumatic Diseases, Vol. 75, Núm. 1, pp. 16-22

  2. Meeting report: Harmonization of RSV therapeutics - from design to performance

    Journal of Global Health, Vol. 6, Núm. 1

  3. Recombinant bile salt-stimulated lipase in preterm infant feeding: A randomized phase 3 study

    PLoS ONE, Vol. 11, Núm. 5

2015

  1. Gambierone, a Ladder-Shaped Polyether from the Dinoflagellate Gambierdiscus belizeanus

    Organic Letters, Vol. 17, Núm. 10, pp. 2392-2395

  2. Lower respiratory tract infection caused by respiratory syncytial virus: Current management and new therapeutics

    The Lancet Respiratory Medicine, Vol. 3, Núm. 11, pp. 888-900

  3. Preoperative and perioperative use of levosimendan in cardiac surgery: European expert opinion

    International Journal of Cardiology, Vol. 184, Núm. 1, pp. 323-336

2014

  1. Comparison of mRNA splicing assay protocols across multiple laboratories: Recommendations for best practice in standardized clinical testing

    Clinical Chemistry, Vol. 60, Núm. 2, pp. 341-352

  2. Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: A report from the ENIGMA consortium

    Human Molecular Genetics, Vol. 23, Núm. 14, pp. 3666-3680

  3. Lipoprotein internalisation induced by oncogenic AMPK activation is essential to maintain glioblastoma cell growth

    European Journal of Cancer, Vol. 50, Núm. 18, pp. 3187-3197