Publications (11) XOSE ANTON SUAREZ PUENTE publications

filter_list Genetics

2024

  1. Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain)

    Clinical Genetics, Vol. 106, Núm. 4, pp. 525-531

2023

  1. The Oncogenic FOXL2 C134W Mutation Is a Key Driver of Granulosa Cell Tumors

    Cancer research, Vol. 83, Núm. 2, pp. 239-250

2019

  1. Insight into genetic predisposition to chronic lymphocytic leukemia from integrative epigenomics

    Nature Communications, Vol. 10, Núm. 1

2018

  1. Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis

    Molecular Cancer

2014

  1. The common marmoset genome provides insight into primate biology and evolution

    Nature Genetics, Vol. 46, Núm. 8, pp. 850-857

2013

  1. POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia

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

2012

  1. Estimation of Copy Number Alterations from Exome Sequencing Data

    PLoS ONE, Vol. 7, Núm. 12

2011

  1. Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome

    American Journal of Human Genetics, Vol. 88, Núm. 5, pp. 650-656

1998

  1. Structural characterization and chromosomal localization of the gene encoding human biphenyl hydrolase-related protein (BPHL)

    Genomics, Vol. 51, Núm. 3, pp. 459-462

1997

  1. Identification and characterization of a novel human matrix metalloproteinase with unique structural characteristics, chromosomal location, and tissue distribution

    Journal of Biological Chemistry, Vol. 272, Núm. 7, pp. 4281-4286

1996

  1. Divergence in properties of two closely related α-amylase inhibitors of barley

    Physiologia Plantarum, Vol. 98, Núm. 3, pp. 523-528