Publicaciones en colaboración con investigadores/as de Imperial College London (34)

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. A Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve

    Circulation, Vol. 147, Núm. 1, pp. 47-65

  2. 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

  3. 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

  4. Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits

    Nature Communications, Vol. 14, Núm. 1

2022

  1. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases

    Heart Rhythm, Vol. 19, Núm. 7, pp. e1-e60

  2. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases

    Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology, Vol. 24, Núm. 8, pp. 1307-1367

  3. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases

    Journal of Arrhythmia, Vol. 38, Núm. 4, pp. 491-553

2021

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

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

2020

  1. A reference map of potential determinants for the human serum metabolome

    Nature, Vol. 588, Núm. 7836, pp. 135-140

  2. Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis

    Journal of the American College of Cardiology, Vol. 76, Núm. 2, pp. 186-197

  3. Dietary metabolite profiling brings new insight into the relationship between nutrition and metabolic risk: An IMI DIRECT study

    EBioMedicine, Vol. 58

  4. Predicting and elucidating the etiology of fatty liver disease: A machine learning modeling and validation study in the IMI DIRECT cohorts

    PLoS Medicine, Vol. 17, Núm. 6

2019

  1. Deregulation of miR-324/KISS1/kisspeptin in early ectopic pregnancy: mechanistic findings with clinical and diagnostic implications

    American Journal of Obstetrics and Gynecology, Vol. 220, Núm. 5, pp. 480.e1-480.e17

  2. Genetic studies of abdominal MRI data identify genes regulating hepcidin as major determinants of liver iron concentration

    Journal of Hepatology, Vol. 71, Núm. 3, pp. 594-602

  3. Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

    Nature Genetics, Vol. 51, Núm. 5, pp. 804-814

2018

  1. Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations

    Journal of the American College of Cardiology, Vol. 72, Núm. 20, pp. 2471-2481

  2. Isogenic Pairs of hiPSC-CMs with Hypertrophic Cardiomyopathy/LVNC-Associated ACTC1 E99K Mutation Unveil Differential Functional Deficits

    Stem Cell Reports, Vol. 11, Núm. 5, pp. 1226-1243

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

    PLoS Genetics, Vol. 14, Núm. 12