Publications in collaboration with researchers from University of Toronto (28)

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

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

    Nature

  3. Erratum: Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19 (Nature (2023) 617 7962 (764-768))

    Nature

  4. GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

    Nature, Vol. 617, Núm. 7962, pp. 764-768

2022

  1. 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. Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates

    Endocrine Pathology, Vol. 32, Núm. 1, pp. 77-101

2020

  1. Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study

    The Lancet Neurology, Vol. 19, Núm. 10, pp. 840-848

  2. Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder (Nature Neuroscience, (2017), 20, 9, (1217-1224), 10.1038/nn.4598)

    Nature Neuroscience

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

2017

  1. Association analysis identifies 65 new breast cancer risk loci

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

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

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

  3. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

    American Journal of Human Genetics

  4. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

    Nature Neuroscience, Vol. 20, Núm. 9, pp. 1217-1224

2015

  1. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 2, pp. 296-312

  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

2014

  1. Ancient human genomes suggest three ancestral populations for present-day Europeans

    Nature, Vol. 513, Núm. 7518, pp. 409-413