Publicacións en colaboración con investigadores/as de University of California, San Francisco (37)

2023

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

    Nature

  2. Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants

    Nature Genetics, Vol. 55, Núm. 12, pp. 2065-2074

  3. 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

  4. Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

    British Journal of Cancer, Vol. 128, Núm. 12, pp. 2283-2294

2022

  1. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

    Communications biology, Vol. 5, Núm. 1, pp. 1061

  2. Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

    Acta Neuropathologica, Vol. 144, Núm. 5, pp. 821-842

  3. 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. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

    Nature Communications, Vol. 12, Núm. 1

  2. Erratum: Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers (Nature communications (2021) 12 1 (1078))

    Nature communications

  3. Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction (Nature Genetics, (2021), 53, 1, (65-75), 10.1038/s41588-020-00748-0)

    Nature Genetics

  4. The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

    Genetics in Medicine, Vol. 23, Núm. 9, pp. 1726-1737

  5. Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction

    Nature Genetics, Vol. 53, Núm. 1, pp. 65-75

2020

  1. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

    Nature Genetics, Vol. 52, Núm. 1, pp. 56-73

  2. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

    Nature Genetics, Vol. 52, Núm. 6, pp. 572-581

  3. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

    Cell, Vol. 180, Núm. 3, pp. 568-584.e23

  4. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

    Genetics in Medicine, Vol. 22, Núm. 10, pp. 1653-1666

  5. 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. BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry

    Human Mutation, Vol. 40, Núm. 10, pp. 1781-1796

  3. 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