Giorgio Casari - Genetic Mutations

Author Information

Giorgio Casari is affiliated with the Telethon Institute of Genetics and Medicine (TIGEM) in Pozzuoli-Naples, Italy, and the Vita-Salute San Raffaele University in Milan, Italy. His research focuses primarily on genetics and related fields, contributing to significant advancements in understanding genetic components of diseases and conditions.

Research Contributions

Giorgio Casari has made substantial contributions to the field of genetics, with a particular emphasis on the genetic aspects of diseases such as COVID-19, Kawasaki disease, and migraine. His work often explores the genetic variants that influence disease susceptibility and severity. For instance, his research on type I IFN autoantibodies has provided critical insights into COVID-19 mortality risks and the genetic factors underlying severe long COVID. Additionally, he has contributed to the development of tools like VarGenius-HZD for detecting rare genetic deletions, enhancing the accuracy of genetic sequencing.

Aliases

The author is known by several aliases, including G Casari, G. Casari, and Giorgio Casari.

Publication and Citation Metrics

Metric	Value
Citation Count	16,855
h-index	64
Paper Count	192

Publications:

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

DOI: 10.21203/rs.3.rs-1225906/v1

Year: 2022

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

DOI: 10.1038/s41591-022-01766-7

Year: 2022

VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage

DOI: 10.3390/genes12121979

Year: 2021

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

DOI: 10.1126/sciimmunol.abl4340

Year: 2021

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

DOI: 10.1126/sciimmunol.abl4348

Year: 2021

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

DOI: 10.1084/jem.20210446

Year: 2021

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

DOI: 10.1016/j.nbd.2021.105419

Year: 2021

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

DOI: 10.1016/j.jid.2021.05.024

Year: 2021

Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths

DOI: 10.3390/ijms22094700

Year: 2021

VarGenius-HZD allows accurate detection of rare homozygous or hemizygous deletions in targeted sequencing leveraging breadth of coverage

DOI: 10.1101/2021.06.21.449209

Year: 2021

What is Sickle Cell Disease?

Are Synonymous Codons Truly Silent?

What is Gene Amplification?

How Do Mutagens Cause Genetic Mutations?

What is Cystic Fibrosis (CF)?

What is Genomics?

What Types of Data are Analyzed?

What Causes CNVs?

Can Inherited Mutations Be Treated or Managed?

What Causes Cystic Fibrosis?

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