Giorgio Casari

Vita-Salute San Raffaele University — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

77h-index31.6kcitations246works7.82yr avg
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Research Topics

Mitochondrial Function and Pathology(33), Neurological diseases and metabolism(25), Ion Transport and Channel Regulation(22), Genetic Neurodegenerative Diseases(21), Hereditary Neurological Disorders(20)

Publications235 total

Deleterious variants in the autophagy-related gene RB1CC1/FIP200 impair immunity to SARS-CoV-2
Nature Communications·2025· 1 citedOpen Access
The seven enigmas of SARS-CoV-2: From the past to the future
Journal of Human Immunity·2025· 1 citedOpen Access
Heterozygous <i>BTNL8</i> variants in individuals with multisystem inflammatory syndrome in children (MIS-C)
The Journal of Experimental Medicine·2024· 8 citedOpen Access
A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome
Diabetologia·2024· 5 citedOpen Access
SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency
The Journal of Experimental Medicine·2024· 17 citedOpen Access
Severe West Nile Virus and Severe Acute Respiratory Syndrome Coronavirus 2 Infections in a Patient With Thymoma and Anti–Type I Interferon Antibodies
The Journal of Infectious Diseases·2024· 7 citedOpen Access
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection
Human Genetics and Genomics Advances·2024· 5 citedOpen Access
Restrained memory CD8 <sup>+</sup> T cell responses favors viral persistence and elevated IgG responses in patients with severe Long COVID
2024· 11 citedOpen Access
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Genome Medicine·2024· 1 citedOpen Access
Analysis of genomics implementation in newborn screening for inherited metabolic disorders: an IRDiRC initiative
Rare Disease and Orphan Drugs Journal·2024· 4 citedOpen Access
A <i>WFS1</i> variant disrupting acceptor splice site uncovers the impact of alternative splicing on β cell apoptosis in a patient with Wolfram syndrome
2023· 1 citedOpen Access
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
Nature·2023· 97 citedOpen Access
115 The mannose-binding lectin (MBL) in MIS-C: relationship between MBL genotype, levels, and functional activity against SARS-CoV-2
Immunobiology·2023· 2 cited
Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort
PLoS ONE·2023· 9 citedOpen Access
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
The American Journal of Human Genetics·2023· 28 citedOpen Access
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Genome Medicine·2023· 76 citedOpen Access
Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia
The Journal of Experimental Medicine·2023· 53 citedOpen Access
Inflammation on Endomyocardial Biopsy Predicts Risk of MACE in Undefined Left Ventricular Arrhythmogenic Cardiomyopathy
JACC. Clinical electrophysiology·2023· 24 cited
Additional file 2 of Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Figshare·2023Open Access
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
2022· 10 citedOpen Access
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Frequent Co-authors

Andrea Ballabio(11), Maurizio De Fusco(10), Alessandro Aiuti(9), Andrés A. Arias(8), Paul Bastard(7), Alexandre Bélot(7), Lluís Quintana‐Murci(7), Petter Brodin(7), José Luis Franco(7), Catherine M. Biggs(7), Alexandre Bolze(6), Filomeen Haerynck(6), Carlos Rodríguez‐Gallego(6), Anna M. Planas(6), Tayfun Özçelık(6), Aurora Pujol(6), Qian Zhang(5), Quentin Philippot(5), Jérémie Rosain(5), Diederik van de Beek(5)