Publicaciones en las que colabora con 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