Publications by the researcher in collaboration with Gloria Velasco Cotarelo (10)

2019

  1. Genome Sequencing and Analysis Methods in Chronic Lymphocytic Leukemia

    Methods in Molecular Biology (Humana Press Inc.), pp. 319-325

2016

  1. Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

    Journal of Medical Genetics, Vol. 53, Núm. 11, pp. 776-785

  2. The Degradome database: Expanding roles of mammalian proteases in life and disease

    Nucleic Acids Research, Vol. 44, Núm. D1, pp. D351-D355

2014

  1. Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

    BMC Medical Genetics, Vol. 15, Núm. 1

2012

  1. 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. Comparative genomic analysis of the zebra finch degradome provides new insights into evolution of proteases in birds and mammals

    BMC Genomics, Vol. 11, Núm. 1

  2. The genome of a songbird

    Nature, Vol. 464, Núm. 7289, pp. 757-762

2009

  1. Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms

    Human Molecular Genetics, Vol. 18, Núm. 19, pp. 3673-3683

2002

  1. Matriptase-2, a membrane-bound mosaic serine proteinase predominantly expressed in human liver and showing degrading activity against extracellular matrix proteins

    Journal of Biological Chemistry, Vol. 277, Núm. 40, pp. 37637-37646