Francesco Gavazzi

Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Gillian Rice, Sehoon Park, Francesco Gavazzi et al. · Human Mutation · 2020 · 107 citations · Full text

Developmental Outcomes of Aicardi Goutières Syndrome

Laura Adang, Francesco Gavazzi, Micaela De Simone et al. · Journal of Child Neurology · 2019 · 62 citations · Full text

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots

Thaís Armangué, Joseph J. Orsini, Asako Takanohashi et al. · Molecular Genetics and Metabolism · 2017 · 51 citations · Full text

Pediatrics, Pathology, Diagnosis +5

The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children

Stefano D’Arrigo, Francesco Gavazzi, Enrico Alfei et al. · Journal of Child Neurology · 2015 · 46 citations

Genetic Testing, Genetics, Disease Gene Identification +17

Development of a neurologic severity scale for Aicardi Goutières Syndrome

Laura Adang, Francesco Gavazzi, Abbas F. Jawad et al. · Molecular Genetics and Metabolism · 2020 · 45 citations · Full text

Heart Failure, Cardiovascular Disease, Diagnosis +6