Publicacions en col·laboració amb investigadors/es de Radboud University Nijmegen Medical Centre (35)

2019

  1. Quality control and quantification in IG/TR next-generation sequencing marker identification: protocols and bioinformatic functionalities by EuroClonality-NGS

    Leukemia, Vol. 33, Núm. 9, pp. 2254-2265

  2. Standardized next-generation sequencing of immunoglobulin and T-cell receptor gene recombinations for MRD marker identification in acute lymphoblastic leukaemia; a EuroClonality-NGS validation study

    Leukemia, Vol. 33, Núm. 9, pp. 2241-2253

2017

  1. Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences

    Leukemia, Vol. 31, Núm. 4, pp. 821-828

  2. High-throughput immunogenetics for clinical and research applications in immunohematology: Potential and challenges

    Journal of Immunology, Vol. 198, Núm. 10, pp. 3765-3774

2016

  1. Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency

    Journal of Allergy and Clinical Immunology, Vol. 138, Núm. 6, pp. 1744-1747.e5

2013

  1. Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity

    Journal of Allergy and Clinical Immunology, Vol. 131, Núm. 5

  2. Clinical Spectrum of LIG4 Deficiency Is Broadened with Severe Dysmaturity, Primordial Dwarfism, and Neurological Abnormalities

    Human Mutation, Vol. 34, Núm. 12, pp. 1611-1614

  3. Common variable immunodeficiency and idiopathic primary hypogammaglobulinemia: Two different conditions within the same disease spectrum

    Haematologica, Vol. 98, Núm. 10, pp. 1617-1623

  4. High-risk childhood acute lymphoblastic leukemia in first remission treated with novel intensive chemotherapy and allogeneic transplantation

    Leukemia, Vol. 27, Núm. 7, pp. 1497-1503

2012

  1. Capillary electrophoresis single-strand conformation analysis (CE-SSCA) for clonality detection in lymphoproliferative disorders

    Journal of Hematopathology, Vol. 5, Núm. 1-2, pp. 83-89

  2. EuroClonality/BIOMED-2 guidelines for interpretation and reporting of Ig/TCR clonality testing in suspected lymphoproliferations

    Leukemia, Vol. 26, Núm. 10, pp. 2159-2171

  3. Highly sensitive MRD tests for ALL based on the IKZF1 Δ3-6 microdeletion

    Leukemia

  4. The EuroClonality website: Information, education and support on clonality testing

    Journal of Hematopathology, Vol. 5, Núm. 1-2, pp. 99-103

2011

  1. Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide

    Genes and Immunity, Vol. 12, Núm. 6, pp. 434-444

  2. B-cell replication history and somatic hypermutation status identify distinct pathophysiologic backgrounds in common variable immunodeficiency

    Blood, Vol. 118, Núm. 26, pp. 6814-6823

  3. Integrated use of minimal residual disease classification and IKZF1 alteration status accurately predicts 79% of relapses in pediatric acute lymphoblastic leukemia

    Leukemia, Vol. 25, Núm. 2, pp. 254-258

2010

  1. Clinical significance of flowcytometric minimal residual disease detection in pediatric acute myeloid leukemia patients treated according to the DCOG ANLL97/MRC AML12 protocol

    Leukemia, Vol. 24, Núm. 9, pp. 1599-1606

2008

  1. Pitfalls in TCR gene clonality testing: Teaching cases

    Journal of Hematopathology, Vol. 1, Núm. 2, pp. 97-109

  2. Translocation detection in lymphoma diagnosis by split-signal FISH: A standardised approach

    Journal of Hematopathology, Vol. 1, Núm. 2, pp. 119-126

  3. Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation

    Journal of Pathology, Vol. 216, Núm. 3, pp. 337-344