Publicacións en colaboración con investigadores/as de University of Adelaide (14)

2023

  1. Clozapine ultrarapid metabolism during weak induction probably exists but requires careful diagnosis. A literature review, five new cases and a proposed definition

    Schizophrenia Research

  2. Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry

    American Journal of Human Genetics, Vol. 110, Núm. 7, pp. 1200-1206

  3. Exploring low clozapine C/D ratios, inverted clozapine-norclozapine ratios and undetectable concentrations as measures of non-adherence in clozapine patients: A literature review and a case series of 17 patients from 3 studies

    Schizophrenia Research

2021

  1. Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer

    Prostate Cancer and Prostatic Diseases, Vol. 24, Núm. 2, pp. 532-541

2019

  1. Correction to: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci (Nature Genetics, (2018), 50, 7, (928-936), 10.1038/s41588-018-0142-8)

    Nature Genetics

  2. Erratum to: Germline variation at 8q24 and prostate cancer risk in men of European ancestry (Nature Communications, (2018), 9, 1, (4616), 10.1038/s41467-018-06863-1)

    Nature Communications

  3. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

    Human Mutation, Vol. 40, Núm. 9, pp. 1557-1578

  4. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

    npj Breast Cancer, Vol. 5, Núm. 1

2018

  1. Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

    Nature Genetics, Vol. 50, Núm. 7, pp. 928-936

  2. Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants

    Nature Communications, Vol. 9, Núm. 1

  3. Germline variation at 8q24 and prostate cancer risk in men of European ancestry

    Nature Communications, Vol. 9, Núm. 1

  4. Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

    Human Mutation, Vol. 39, Núm. 8, pp. 1126-1138

2016

  1. Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

    Human Molecular Genetics, Vol. 25, Núm. 11, pp. 2256-2268

2012

  1. Evidence of pre-roman tribal genetic structure in basques from uniparentally inherited markers

    Molecular Biology and Evolution, Vol. 29, Núm. 9, pp. 2211-2222