Publicaciones en colaboración con investigadores/as de Broad Institute (19)

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations

    Nature Communications, Vol. 14, Núm. 1

  3. Erratum to: Mapping the human genetic architecture of COVID-19 (Nature, (2021), 600, 7889, (472-477), 10.1038/s41586-021-03767-x)

    Nature

  4. Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries

    Nature Genetics, Vol. 55, Núm. 5, pp. 796-806

2022

  1. Detailed stratified GWAS analysis for severe COVID-19 in four European populations

    Human Molecular Genetics, Vol. 31, Núm. 23, pp. 3945-3966

2021

  1. GWAS of stool frequency provides insights into gastrointestinal motility and irritable bowel syndrome

    Cell Genomics, Vol. 1, Núm. 3

  2. Genetic architectures of proximal and distal colorectal cancer are partly distinct

    Gut, Vol. 70, Núm. 7, pp. 1325-1334

  3. Mapping the human genetic architecture of COVID-19

    Nature, Vol. 600, Núm. 7889, pp. 472-477

  4. Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility

    PLoS ONE, Vol. 16, Núm. 8

  5. rs641738C>T near MBOAT7 is associated with liver fat, ALT and fibrosis in NAFLD: A meta-analysis

    Journal of Hepatology, Vol. 74, Núm. 1, pp. 20-30

2020

  1. Circulating bilirubin levels and risk of colorectal cancer: serological and Mendelian randomization analyses

    BMC medicine, Vol. 18, Núm. 1, pp. 229

  2. Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits

    PLoS Genetics, Vol. 16, Núm. 10

  3. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

    Genetics in Medicine, Vol. 22, Núm. 9, pp. 1478-1488

2019

  1. 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. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

    Skeletal Muscle, Vol. 8, Núm. 1

  2. Limb girdle muscular dystrophy due to mutations in POMT2

    Journal of neurology, neurosurgery, and psychiatry, Vol. 89, Núm. 5, pp. 506-512

2014

  1. Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33

    Human Molecular Genetics, Vol. 23, Núm. 24, pp. 6616-6633

2013

  1. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

    European Journal of Human Genetics, Vol. 21, Núm. 10, pp. 1074-1078

2008

  1. Haplotypes of the estrogen receptor beta gene and breast cancer risk

    International Journal of Cancer, Vol. 122, Núm. 2, pp. 387-392