List of works - Benedetta Bigio

A genome-wide case-only test for the detection of digenic inheritance in human exomes

scientific article published on 27 July 2020

A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

scientific article published on 20 April 2022

Auto-antibodies against type I IFNs in patients with life-threatening COVID-19

scientific article published on 24 September 2020

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

scientific article published on 27 December 2018

CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.

scientific article published on 27 June 2018

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

scientific article published on 01 November 2019

Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing

scientific article published on 22 May 2021

Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency

scientific article published on 01 January 2020

Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency

scientific article published on 22 September 2020

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

scientific article published on 01 December 2018

Human genetic and immunological determinants of critical COVID-19 pneumonia

scientific article published on 28 January 2022

IRF4 haploinsufficiency in a family with Whipple's disease.

scientific article

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