Area of research
Infectious Diseases · Immunology
Research interest
Research interests include SARS-CoV-2 and COVID-19 Research, Genomics and Rare Diseases, Immunodeficiency and Autoimmune Disorders, and COVID-19 Clinical Research Studies.
Dominant negative <i>ADA2</i> mutations cause ADA2 deficiency in heterozygous carriers
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
The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants
A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity
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
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
Additional file 2 of Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Wastewater sequencing reveals early cryptic SARS-CoV-2 variant transmission
Human genetic and immunological determinants of critical COVID-19 pneumonia
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
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency
Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19
Emergence and rapid transmission of SARS-CoV-2 B.1.1.7 in the United States
A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection
Harnessing Type I IFN Immunity Against SARS-CoV-2 with Early Administration of IFN-β
From Your Nose to Your Toes: A Review of Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic‒Associated Pernio
Autoantibodies against type I IFNs in patients with life-threatening COVID-19
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection
Life-Threatening COVID-19: Defective Interferons Unleash Excessive Inflammation
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated <i>RPSA</i> exons
Exome and genome sequencing for inborn errors of immunity