Publicacións en colaboración con investigadores/as de University of Paris-Sorbonne (24)

2024

  1. Comprehensive analysis of constitutional mismatch repair deficiency-associated non-Hodgkin lymphomas in a global cohort

    Pediatric Blood and Cancer

2023

  1. A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2

    Human Mutation, Vol. 2023

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

    Nature

  3. Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))

    Nature communications

2022

  1. Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

    Journal of Clinical Oncology, Vol. 40, Núm. 14, pp. 1529-1541

  2. Erratum: Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk (European journal of human genetics : EJHG (2022) 30 3 (349-362))

    European journal of human genetics : EJHG

  3. First international workshop of the ATM and cancer risk group (4-5 December 2019)

    Familial Cancer, Vol. 21, Núm. 2, pp. 211-227

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

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

  5. Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility

    Nature Genetics, Vol. 54, Núm. 9, pp. 1275-1283

  6. Meta-analysis of epigenome-wide association studies in newborns and children show widespread sex differences in blood DNA methylation

    Mutation Research - Reviews in Mutation Research, Vol. 789

  7. New insights into the genetic etiology of Alzheimer's disease and related dementias

    Nature genetics, Vol. 54, Núm. 4, pp. 412-436

  8. Polygenic risk modeling for prediction of epithelial ovarian cancer risk

    European journal of human genetics : EJHG, Vol. 30, Núm. 3, pp. 349-362

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. Cognitive functioning throughout adulthood and illness stages in individuals with psychotic disorders and their unaffected siblings

    Molecular Psychiatry, Vol. 26, Núm. 8, pp. 4529-4543

  3. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

    Nature communications, Vol. 12, Núm. 1, pp. 3417

  4. 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

  5. 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

  6. Variability of multi-omics profiles in a population-based child cohort

    BMC Medicine, Vol. 19, Núm. 1

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. 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