Publicacións en colaboración con investigadores/as de Pierre and Marie Curie University (16)

2024

  1. The genomic evolutionary dynamics and global circulation patterns of respiratory syncytial virus

    Nature communications, Vol. 15, Núm. 1, pp. 3083

2022

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

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

  2. Postauthorization safety study of betaine anhydrous

    Journal of Inherited Metabolic Disease, Vol. 45, Núm. 4, pp. 719-733

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

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

  2. Treatment of Multisystem Inflammatory Syndrome in Children

    New England Journal of Medicine, Vol. 385, Núm. 1, pp. 11-22

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. 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

2019

  1. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352

2018

  1. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

    Journal of Inherited Metabolic Disease

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

2015

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

    PLoS ONE, Vol. 10, Núm. 4

  2. 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

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

2012

  1. Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk

    Neurobiology of Aging, Vol. 33, Núm. 7, pp. 1487.e21-1487.e28