Publicacións en colaboración con investigadores/as de Hospital Universitario 12 de Octubre (32)

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. Comprehensive analysis of constitutional mismatch repair deficiency-associated non-Hodgkin lymphomas in a global cohort

    Pediatric Blood and Cancer

  3. Efficacy and safety of colistin plus beta-lactams for bone and joint infection caused by fluoroquinolone-resistant gram-negative bacilli: a prospective multicenter study

    Infection

  4. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

  5. SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population

    Database : the journal of biological databases and curation, Vol. 2024

2023

  1. A crowdsourcing database for the copy-number variation of the Spanish population

    Human Genomics, Vol. 17, Núm. 1

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

    Nature

  3. CNL and aCML should be considered as a single entity based on molecular profiles and outcomes

    Blood Advances, Vol. 7, Núm. 9, pp. 1672-1681

  4. Genetic testing in focal segmental glomerulosclerosis: in whom and when?

    Clinical Kidney Journal, Vol. 16, Núm. 11, pp. 2011-2022

  5. Genomics improves risk stratifi cation of adults with T-cell acute lymphoblastic leukemia enrolled in measurable residual disease-oriented trials

    Haematologica, Vol. 108, Núm. 4, pp. 969-980

  6. Machine Learning Improves Risk Stratification in Myelofibrosis: An Analysis of the Spanish Registry of Myelofibrosis

    HemaSphere, Vol. 7, Núm. 1, pp. E818

  7. SARS-CoV-2 infection in children with cystic fibrosis: A cross-sectional multicenter study in Spain. New waves, new knowledge

    Pediatric Pulmonology, Vol. 58, Núm. 11, pp. 3195-3205

2022

  1. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

2021

  1. A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients

    Clinical chemistry, Vol. 67, Núm. 3, pp. 518-533

2019

  1. Identification of regulatory variants associated with genetic susceptibility to meningococcal disease

    Scientific Reports, Vol. 9, Núm. 1

  2. Plasma lipid profiles discriminate bacterial from viral infection in febrile children

    Scientific Reports, Vol. 9, Núm. 1

2017

  1. Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome

    PLoS ONE, Vol. 12, Núm. 11

  2. The genetic component of bicuspid aortic valve and aortic dilation. An exome-wide association study

    Journal of Molecular and Cellular Cardiology, Vol. 102, pp. 3-9

2015

  1. Fluorescence in situ hybridization of TP53 for the detection of chromosome 17 abnormalities in myelodysplastic syndromes

    Leukemia and Lymphoma, Vol. 56, Núm. 11, pp. 3183-3188

2014

  1. A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis

    PLoS ONE, Vol. 9, Núm. 6