Publications by the researcher in collaboration with Gloria Velasco Cotarelo (42)

2019

  1. Genome Sequencing and Analysis Methods in Chronic Lymphocytic Leukemia

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

2018

  1. Matriptase-2 deficiency protects from obesity by modulating iron homeostasis

    Nature Communications, Vol. 9, Núm. 1

  2. Mouse models to disentangle the hallmarks of human aging

    Circulation Research, Vol. 123, Núm. 7, pp. 905-924

  3. Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome

    Journal of Medical Genetics, Vol. 55, Núm. 12, pp. 837-846

  4. The microRNA-29/PGC1α regulatory axis is critical for metabolic control of cardiac function

    PLoS Biology, Vol. 16, Núm. 10

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

2015

  1. A critical role for murine transferrin receptor 2 in erythropoiesis during iron restriction

    British Journal of Haematology, Vol. 168, Núm. 6, pp. 891-901

2014

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

    BMC Medical Genetics, Vol. 15, Núm. 1

2013

  1. Cathepsin O

    Handbook of Proteolytic Enzymes (Elsevier Ltd), pp. 1821-1823

  2. Matriptase-2

    Handbook of Proteolytic Enzymes (Elsevier Ltd), pp. 2975-2983

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 (TMPRSS6): A proteolytic regulator of iron homeostasis

    Haematologica, Vol. 94, Núm. 6, pp. 840-849

  2. 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

2008

  1. Membrane-bound serine protease matriptase-2 (Tmprss6) is an essential regulator of iron homeostasis

    Blood, Vol. 112, Núm. 6, pp. 2539-2545

2006

  1. Comparative analysis of cancer genes in the human and chimpanzee genomes

    BMC Genomics, Vol. 7

2005

  1. A genomic view of the complexity of mammalian proteolytic systems

    Biochemical Society Transactions

  2. Initial sequence of the chimpanzee genome and comparison with the human genome

    Nature, Vol. 437, Núm. 7055, pp. 69-87