Publicacións en colaboración con investigadores/as de David Geffen School of Medicine at UCLA (23)

2024

  1. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

    Genetics in Medicine, Vol. 26, Núm. 4

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

2022

  1. Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

    PLoS genetics, Vol. 18, Núm. 11, pp. e1010367

  2. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

    Nature Genetics, Vol. 54, Núm. 9, pp. 1320-1331

2021

  1. Breast cancer risk genes - Association analysis in more than 113,000 women

    New England Journal of Medicine, Vol. 384, Núm. 5, pp. 428-439

  2. Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk

    Journal of the National Cancer Institute, Vol. 113, Núm. 3, pp. 329-337

  3. TIPICO XI: report of the first series and podcast on infectious diseases and vaccines (aTIPICO)

    Human Vaccines and Immunotherapeutics, Vol. 17, Núm. 11, pp. 4299-4327

2020

  1. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

    Scientific Reports, Vol. 10, Núm. 1

2019

  1. Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2)

    Nature Genetics

  2. Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

    Nature Genetics, Vol. 51, Núm. 3, pp. 414-430

  3. Genome-wide association study of germline variants and breast cancer-specific mortality

    British Journal of Cancer, Vol. 120, Núm. 6, pp. 647-657

  4. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 93-106

2017

  1. Association analysis identifies 65 new breast cancer risk loci

    Nature, Vol. 551, Núm. 7678, pp. 92-94

  2. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

    Nature Genetics, Vol. 49, Núm. 7, pp. 993-1004

  3. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

    Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778

2015

  1. Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

    Human Molecular Genetics, Vol. 24, Núm. 5, pp. 1478-1492

  2. Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors

    International Journal of Cancer, Vol. 136, Núm. 6, pp. E685-E696

  3. Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1

    Scientific Reports, Vol. 5

  4. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

    Nature Genetics, Vol. 47, Núm. 6, pp. 579-581

2013

  1. Enhanced localization of genetic samples through linkage-disequilibrium correction

    American Journal of Human Genetics, Vol. 92, Núm. 6, pp. 882-894