Area of research
Infectious Diseases · Genetics
Research interest
Research interests include SARS-CoV-2 and COVID-19 Research, COVID-19 Clinical Research Studies, Genomics and Rare Diseases, and Cell Adhesion Molecules Research.
Deleterious coding variation associated with autism is shared across ancestries
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Pathogen-sugar interactions revealed by universal saturation transfer analysis
The microRNA processor<i>DROSHA</i>is a candidate gene for a severe progressive neurological disorder
Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity
Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population
Human CRY1 variants associate with attention deficit/hyperactivity disorder
Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
Alport syndrome: impact of digenic inheritance in patients management
Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases