Publicacións en colaboración con investigadores/as de Pitié-Salpêtrière Hospital (21)

2023

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

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

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

2020

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

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

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: Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia (Nature Communications, (2018), 9, 1, (1340), 10.1038/s41467-018-03178-z)

    Nature Communications

  4. Erratum to: Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility (Nature Communications, (2017), 8, 1, (1892), 10.1038/s41467-017-00320-1)

    Nature Communications

  5. Erratum to: Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma (Nature Communications, (2018), 9, 1, (3707), 10.1038/s41467-018-04989-w)

    Nature Communications

  6. Erratum to: Large-scale transcriptome-wide association study identifies new prostate cancer risk regions (Nature Communications, (2018), 9, 1, (4079), 10.1038/s41467-018-06302-1)

    Nature Communications

  7. 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

  8. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

    npj Breast Cancer, Vol. 5, Núm. 1

2018

  1. Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer

    Oncotarget, Vol. 9, Núm. 25, pp. 17334-17348

  2. Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia

    Nature Communications, Vol. 9, Núm. 1

  3. Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma

    Nature Communications, Vol. 9, Núm. 1

  4. Large-scale transcriptome-wide association study identifies new prostate cancer risk regions

    Nature Communications, Vol. 9, Núm. 1

2017

  1. Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility

    Nature Communications, Vol. 8, Núm. 1

2015

  1. A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk

    PLoS ONE, Vol. 10, Núm. 4

  2. Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

    Gastroenterology, Vol. 149, Núm. 4, pp. 1017-1029.e3

2013

  1. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

    Nature Genetics, Vol. 45, Núm. 9, pp. 1077-1082