Publicacións en colaboración con investigadores/as de Hospital General Universitario de Alicante (32)

2024

  1. Evaluation of Genetic Variants Associated with the Risk of Thiopurine-Related Pancreatitis: A Case Control Study from ENEIDA Registry

    Digestive Diseases, Vol. 42, Núm. 3, pp. 257-264

  2. Whole Exome Sequencing Identifies Epithelial and Immune Dysfunction-Related Biomarkers in Food Protein-Induced Enterocolitis Syndrome

    Clinical and Experimental Allergy, Vol. 54, Núm. 11, pp. 919-929

2023

  1. BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis

    Gastroenterology, Vol. 165, Núm. 1, pp. 162-172.e5

2021

  1. Children with acute food protein-induced enterocolitis syndrome from Spain and Italy usually tolerate all other food groups

    Clinical and Experimental Allergy

  2. Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer

    Scientific Reports, Vol. 11, Núm. 1

  3. The first wave of the COVID-19 epidemic in Spain was associated with early introductions and fast spread of a dominating genetic variant

    Nature Genetics, Vol. 53, Núm. 10, pp. 1405-1414

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. 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

2015

  1. Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome colorectal cancer

    Cancer, Vol. 121, Núm. 9, pp. 1395-1404

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. High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families

    Clinical Genetics, Vol. 85, Núm. 6, pp. 583-588

  3. Multiple sporadic colorectal cancers display a unique methylation phenotype

    PLoS ONE, Vol. 9, Núm. 3

  4. 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. 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

  7. Risk of cancer in cases of suspected lynch syndrome without germline mutation

    Gastroenterology, Vol. 144, Núm. 5