Publicacións en colaboración con investigadores/as de Mayo Clinic (22)

2023

  1. A genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry

    Breast cancer research : BCR, Vol. 25, Núm. 1, pp. 93

2022

  1. Galactose epimerase deficiency: lessons from the GalNet registry

    Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 331

2021

  1. 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

2020

  1. Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation

    Journal of Inherited Metabolic Disease, Vol. 43, Núm. 4, pp. 671-693

2019

  1. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    Nature Communications, Vol. 10, Núm. 1

  2. 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

  3. 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

  4. 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

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

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

2018

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

    Nature Communications, Vol. 9, Núm. 1

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

    Nature Communications, Vol. 9, Núm. 1

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. Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia

    Nature Communications, Vol. 8

  4. 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

2014

  1. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

    Nature Genetics, Vol. 46, Núm. 8, pp. 826-836

2013

  1. Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia

    Nature Genetics, Vol. 45, Núm. 8, pp. 868-876