Publikationen in Zusammenarbeit mit Forschern von Universitat de Barcelona (18)

2019

  1. Association of the POT1 Germline Missense Variant p.I78T with Familial Melanoma

    JAMA Dermatology, Vol. 155, Núm. 5, pp. 604-609

2018

  1. Altered patterns of global protein synthesis and translational fidelity in RPS15-mutated chronic lymphocytic leukemia

    Blood, Vol. 132, Núm. 22, pp. 2375-2388

2015

  1. A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing

    Nature Communications, Vol. 6

  2. Molecular pathogenesis of CLL and its evolution

    International Journal of Hematology, Vol. 101, Núm. 3, pp. 219-228

  3. Mutations in CHD2 cause defective association with active chromatin in chronic lymphocytic leukemia

    Blood, Vol. 126, Núm. 2, pp. 195-202

  4. Non-coding recurrent mutations in chronic lymphocytic leukaemia

    Nature, Vol. 526, Núm. 7574, pp. 519-524

2014

  1. Mutations in TLR/MYD88 pathway identify a subset of young chronic lymphocytic leukemia patients with favorable outcome

    Blood, Vol. 123, Núm. 24, pp. 3790-3796

  2. Transcriptome characterization by RNA sequencing identifies a major molecular and clinical subdivision in chronic lymphocytic leukemia

    Genome Research, Vol. 24, Núm. 2, pp. 212-226

2013

  1. Frequent somatic mutations in components of the RNA processing machinery in chronic lymphocytic leukemia

    Leukemia

  2. Functional analysis of sucrase-isomaltase mutations from chronic lymphocytic leukemia patients

    Human Molecular Genetics, Vol. 22, Núm. 11, pp. 2273-2282

  3. NOTCH1 mutations identify a genetic subgroup of chronic lymphocytic leukemia patients with high risk of transformation and poor outcome

    Leukemia, Vol. 27, Núm. 5, pp. 1100-1106

  4. POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia

    Nature Genetics, Vol. 45, Núm. 5, pp. 526-530

  5. Recurrent gene mutations in CLL

    Advances in Experimental Medicine and Biology, Vol. 792, pp. 87-107

  6. The genomic landscape of chronic lymphocytic leukemia: Clinical implications

    BMC Medicine, Vol. 11, Núm. 1

2012

  1. Epigenomic analysis detects widespread gene-body DNA hypomethylation in chronic lymphocytic leukemia

    Nature Genetics, Vol. 44, Núm. 11, pp. 1236-1242

  2. Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia

    Nature Genetics, Vol. 44, Núm. 1, pp. 47-52

2011

  1. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

    Nature, Vol. 475, Núm. 7354, pp. 101-105

2010

  1. International network of cancer genome projects

    Nature, Vol. 464, Núm. 7291, pp. 993-998