Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (28)

2024

  1. Engineered T cells secreting anti-BCMA T cell engagers control multiple myeloma and promote immune memory in vivo

    Science translational medicine, Vol. 16, Núm. 734, pp. eadg7962

2023

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

    Nature

  2. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients

    Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654

  3. NLRP3 inflammasome activation and symptom burden in KRAS-mutated CMML patients is reverted by IL-1 blocking therapy

    Cell Reports Medicine, Vol. 4, Núm. 12

2022

  1. CD34+CD19−CD22+ B-cell progenitors may underlie phenotypic escape in patients treated with CD19-directed therapies

    Blood, Vol. 140, Núm. 1, pp. 38-44

  2. Clonal heterogeneity and rates of specific chromosome gains are risk predictors in childhood high-hyperdiploid B-cell acute lymphoblastic leukemia

    Molecular Oncology, Vol. 16, Núm. 16, pp. 2899-2919

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

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

2021

  1. A clinico-pathological and molecular analysis reveals differences between solitary (early and late-onset) and synchronous rectal cancer

    Scientific Reports, Vol. 11, Núm. 1

  2. Sentinel lymph node biopsy vs. Observation in thin melanoma: A multicenter propensity score matching study

    Journal of Clinical Medicine, Vol. 10, Núm. 24

2020

  1. Corrigendum to “Evaluation of previous substance dependence genome-wide significant findings in a Spanish sample” (Drug and Alcohol Dependence (2018) 187 (358–362), (S0376871618302096), (10.1016/j.drugalcdep.2018.03.013))

    Drug and Alcohol Dependence

  2. Helpful criteria when implementing ngs panels in childhood lymphoblastic leukemia

    Journal of Personalized Medicine, Vol. 10, Núm. 4, pp. 1-15

  3. Novel dominant kcnq2 exon 7 partial in-frame duplication in a complex epileptic and neurodevelopmental delay syndrome

    International Journal of Molecular Sciences, Vol. 21, Núm. 12, pp. 1-11

2019

  1. ADGRL3 (LPHN3) variants predict substance use disorder

    Translational Psychiatry, Vol. 9, Núm. 1

  2. Association of polyps with early-onset colorectal cancer and throughout surveillance: novel clinical and molecular implications

    Cancers, Vol. 11, Núm. 12

2018

  1. Evaluation of previous substance dependence genome-wide significant findings in a Spanish sample

    Drug and Alcohol Dependence, Vol. 187, pp. 358-362

  2. Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome

    British Journal of Dermatology, Vol. 178, Núm. 1, pp. 198-206

2017

  1. Association of the PLCB1 gene with drug dependence

    Scientific Reports, Vol. 7, Núm. 1

2016

  1. A Highly Polymorphic Copy Number Variant in the NSF Gene is Associated with Cocaine Dependence

    Scientific Reports, Vol. 6

  2. Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction

    Blood, Vol. 128, Núm. 9, pp. 1282-1289

2015

  1. Transcriptomic and genetic studies identify NFAT5 as a candidate gene for cocaine dependence

    Translational Psychiatry, Vol. 5, Núm. 10