Publications in collaboration with researchers from Hospital Universitario de Valladolid (18)

2023

  1. Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis

    Blood, Vol. 141, Núm. 4, pp. 406-421

2022

  1. TRAF3 alterations are frequent in del-3′IGH chronic lymphocytic leukemia patients and define a specific subgroup with adverse clinical features

    American Journal of Hematology, Vol. 97, Núm. 7, pp. 903-914

2020

  1. Chronic lymphocytic leukemia patients with IGH translocations are characterized by a distinct genetic landscape with prognostic implications

    International Journal of Cancer, Vol. 147, Núm. 10, pp. 2780-2792

  2. Comprehensive custom ngs panel validation for the improvement of the stratification of b-acute lymphoblastic leukemia patients

    Journal of Personalized Medicine, Vol. 10, Núm. 3, pp. 1-21

  3. Integrated genomic analysis of chromosomal alterations and mutations in B-cell acute lymphoblastic leukemia reveals distinct genetic profiles at relapse

    Diagnostics, Vol. 10, Núm. 7

2019

  1. CLL cells cumulate genetic aberrations prior to the first therapy even in outwardly inactive disease phase

    Leukemia, Vol. 33, Núm. 2, pp. 518-558

2018

  1. Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

    Haematologica, Vol. 103, Núm. 1, pp. 148-162

2017

  1. Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes

    Thrombosis and Haemostasis, Vol. 117, Núm. 1, pp. 66-74

  2. Next-generation sequencing and FISH studies reveal the appearance of gene mutations and chromosomal abnormalities in hematopoietic progenitors in chronic lymphocytic leukemia

    Journal of Hematology and Oncology, Vol. 10, Núm. 1

2016

  1. Chromothripsis is a recurrent genomic abnormality in high-risk myelodysplastic syndromes

    PLoS ONE, Vol. 11, Núm. 10

  2. Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders

    Haemophilia, Vol. 22, Núm. 4, pp. 590-597

  3. Genome-Wide DNA Copy Number Analysis of Acute Lymphoblastic Leukemia Identifies New Genetic Markers Associated with Clinical Outcome

    PloS one, Vol. 11, Núm. 2, pp. e0148972

  4. MiRNA expression profile of chronic lymphocytic leukemia patients with 13q deletion

    Leukemia Research, Vol. 46, pp. 30-36

  5. The presence of genomic imbalances is associated with poor outcome in patients with burkitt lymphoma treated with dose-intensive chemotherapy including rituximab

    British journal of haematology, Vol. 172, Núm. 3, pp. 428-438

2015

  1. Deregulation of genes related to iron and mitochondrial metabolism in refractory anemia with ring sideroblasts

    PLoS ONE, Vol. 10, Núm. 5

  2. MicroRNA-223 is a novel negative regulator of HSP90B1 in CLL

    BMC Cancer, Vol. 15, Núm. 1

2012

  1. Molecular Characterization of Chronic Lymphocytic Leukemia Patients with a High Number of Losses in 13q14

    PLoS ONE, Vol. 7, Núm. 11

2009

  1. A high number of losses in 13ql4 chromosome band is associated with a worse outcome and biological differences in patients with B-cell chronic lymphoid leukemia

    Haematologica, Vol. 94, Núm. 3, pp. 364-371