Publicacións en colaboración con investigadores/as de University of Illinois at Chicago (42)

2023

  1. Clinical features and immune mechanisms directly linked to the altered liver function in patients with rheumatoid arthritis

    European Journal of Internal Medicine, Vol. 118, pp. 49-58

2022

  1. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

    Nature Genetics, Vol. 54, Núm. 9, pp. 1320-1331

2020

  1. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

    Cell, Vol. 180, Núm. 3, pp. 568-584.e23

2019

  1. BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry

    Human Mutation, Vol. 40, Núm. 10, pp. 1781-1796

2017

  1. Candidate predisposing germline copy number variants in early onset colorectal cancer patients

    Clinical and Translational Oncology, Vol. 19, Núm. 5, pp. 625-632

2016

  1. A novel missense variant in PRKCB segregates low-frequency hearing loss in an autosomal dominant family with Meniere's disease

    Human Molecular Genetics, Vol. 25, Núm. 16, pp. 3407-3415

  2. Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC)

    Carcinogenesis, Vol. 37, Núm. 8, pp. 751-758

  3. Obesity- and gender-dependent role of endogenous somatostatin and cortistatin in the regulation of endocrine and metabolic homeostasis in mice

    Scientific Reports, Vol. 6

  4. Zfp281 Coordinates Opposing Functions of Tet1 and Tet2 in Pluripotent States

    Cell Stem Cell, Vol. 19, Núm. 3, pp. 355-369

2015

  1. Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer

    Journal of Medical Genetics, Vol. 52, Núm. 7, pp. 498-502

2014

  1. A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer

    Human Genetics, Vol. 133, Núm. 5, pp. 525-534

  2. Multiple sporadic colorectal cancers display a unique methylation phenotype

    PLoS ONE, Vol. 9, Núm. 3

  3. The MLH1c.1852-1853delinsGC (p.K618A) variant in colorectal cancer: Genetic association study in 18,723 individuals

    PLoS ONE, Vol. 9, Núm. 4

2013

  1. A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12

    BMC Genomics, Vol. 14, Núm. 1

  2. BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern european populations

    Carcinogenesis, Vol. 34, Núm. 2, pp. 314-318

  3. BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency

    Clinical Genetics

  4. Genetic susceptibility variants associated with colorectal cancer prognosis

    Carcinogenesis, Vol. 34, Núm. 10, pp. 2286-2291

  5. Meta-Analysis of Mismatch Repair Polymorphisms within the Cogent Consortium for Colorectal Cancer Susceptibility

    PLoS ONE, Vol. 8, Núm. 9

  6. Nutritional, hormonal, and depot-dependent regulation of the expression of the small GTPase rab18 in rodent adipose tissue

    Journal of Molecular Endocrinology, Vol. 50, Núm. 1, pp. 19-29

  7. Pharmacogenomics in colorectal cancer: A genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration

    Pharmacogenomics Journal, Vol. 13, Núm. 3, pp. 209-217