Publicacións (454) Publicacións nas que participase algún/ha investigador/a Ver datos de investigación referenciados.

2024

  1. A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis

    Journal of Molecular Diagnostics, Vol. 26, Núm. 1, pp. 17-28

  2. An exploratory analysis of associations of genetic variation with the efficacy of tocilizumab in severe COVID-19 patients. A pharmacogenetic study based on next-generation sequencing

    Frontiers in Pharmacology, Vol. 15

  3. Association between circulating inflammatory markers and adult cancer risk: a Mendelian randomization analysis

    eBioMedicine, Vol. 100

  4. 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

  5. Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder

    Clinical Genetics, Vol. 105, Núm. 2, pp. 140-149

  6. Host gene expression signatures to identify infection type and organ dysfunction in children evaluated for sepsis: a multicentre cohort study

    The Lancet Child and Adolescent Health, Vol. 8, Núm. 5, pp. 325-338

  7. Role of cfDNA and ctDNA to improve the risk stratification and the disease follow-up in patients with endometrial cancer: towards the clinical application

    Journal of Experimental and Clinical Cancer Research, Vol. 43, Núm. 1

2023

  1. (Pre)treatment risk factors for late fatigue and fatigue trajectories following radiotherapy for breast cancer

    International Journal of Cancer, Vol. 153, Núm. 9, pp. 1579-1591

  2. A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2

    Human Mutation, Vol. 2023

  3. A meta-analysis and a functional study support the influence of mtDNA variant m.16519C on the risk of rapid progression of knee osteoarthritis

    Annals of the Rheumatic Diseases, Vol. 82, Núm. 7, pp. 974-984

  4. A phenome-wide comparative analysis of genetic discordance between obesity and type 2 diabetes

    Nature Metabolism, Vol. 5, Núm. 2, pp. 237-247

  5. 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

  6. Bibliometric Analysis of Articles Published by Spanish Dermatologists in High Impact Factor Journals in 2018 and 2019

    Actas Dermo-Sifiliograficas

  7. Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants

    Nature Genetics, Vol. 55, Núm. 12, pp. 2065-2074

  8. Comparing symptom reporting by prostate cancer patients and healthcare professionals in the international multicentre REQUITE study

    Radiotherapy and Oncology, Vol. 178

  9. Comparison of prone and supine positioning for breast cancer radiotherapy using REQUITE data: dosimetry, acute and two years physician and patient-reported outcomes

    Acta Oncologica, Vol. 62, Núm. 9, pp. 1036-1044

  10. Contouring variation affects estimates of normal tissue complication probability for breast fibrosis after radiotherapy

    Breast, Vol. 72

  11. 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

  12. ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

    Clinical cancer research : an official journal of the American Association for Cancer Research, Vol. 29, Núm. 16, pp. 3037-3050

  13. Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry

    American Journal of Human Genetics, Vol. 110, Núm. 7, pp. 1200-1206