Giorgio Casari

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases

The seven enigmas of SARS-CoV-2: From the past to the future

Deleterious variants in the autophagy-related gene RB1CC1/FIP200 impair immunity to SARS-CoV-2

SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency

Severe West Nile Virus and Severe Acute Respiratory Syndrome Coronavirus 2 Infections in a Patient With Thymoma and Anti–Type I Interferon Antibodies

Heterozygous <i>BTNL8</i> variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

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

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

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

Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

Inflammation on Endomyocardial Biopsy Predicts Risk of MACE in Undefined Left Ventricular Arrhythmogenic Cardiomyopathy

Additional file 2 of Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Human genetic and immunological determinants of critical COVID-19 pneumonia

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

Studying severe long COVID to understand post-infectious disorders beyond COVID-19

Autoantibodies against type I IFNs in patients with critical influenza pneumonia

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia

Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Specific activation of GluN1-N2B NMDA receptors underlies facilitation of cortical spreading depression in a genetic mouse model of migraine with reduced astrocytic glutamate clearance

From Your Nose to Your Toes: A Review of Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic‒Associated Pernio

Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

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

A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection