Publications in collaboration with researchers from New York Genome Center (6)

2025

  1. Small variant benchmark from a complete assembly of X and Y chromosomes

    Nature communications, Vol. 16, Núm. 1, pp. 497

2024

  1. Erratum: Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (Genome medicine (2023) 15 1 (22))

    Genome medicine

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

2022

  1. Curated variation benchmarks for challenging medically relevant autosomal genes

    Nature Biotechnology, Vol. 40, Núm. 5, pp. 672-680

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