Publications in collaboration with researchers from Pitié-Salpêtrière Hospital (13)

2023

  1. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    Genome Medicine, Vol. 15, Núm. 1

2021

  1. SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration

    Brain, Vol. 144, Núm. 9, pp. 2798-2811

2020

  1. Autoantibodies against type I IFNs in patients with life-threatening COVID-19

    Science, Vol. 370, Núm. 6515

  2. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

    Science, Vol. 370, Núm. 6515

  3. Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis

    Scientific Reports, Vol. 10, Núm. 1

2019

  1. Clinical and genetic characteristics of late-onset Huntington's disease

    Parkinsonism and Related Disorders, Vol. 61, pp. 101-105

  2. Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

    Scientific Reports, Vol. 9, Núm. 1

2018

  1. A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

    Brain, Vol. 141, Núm. 10, pp. 2895-2907

  2. Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

    PLoS Medicine, Vol. 15, Núm. 1

  3. Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

    Journal of Huntington's Disease, Vol. 7, Núm. 3, pp. 209-222

2017

  1. Cognitive decline in Huntington's disease expansion gene carriers

    Cortex, Vol. 95, pp. 51-62

  2. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

    The Lancet Neurology, Vol. 16, Núm. 9, pp. 701-711

  3. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

    Nature Genetics, Vol. 49, Núm. 9, pp. 1373-1384