Antonio Novelli
University of Rome Tor Vergata(IT)Casa Sollievo della Sofferenza(IT)Saint Camillus International University of Health and Medical Sciences(IT)Bambino Gesù Children's Hospital(IT)Istituti di Ricovero e Cura a Carattere Scientifico(IT)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Congenital heart defects research, Genomics and Rare Diseases, Prenatal Screening and Diagnostics
Most-Cited Works
- → X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19(2021)415 cited
- → Human genetic and immunological determinants of critical COVID-19 pneumonia(2022)384 cited
- → Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies(2015)311 cited
- → Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features(2013)206 cited
- → Human neural stem cell transplantation in ALS: initial results from a phase I trial(2015)203 cited
- → Natural Gene-Expression Variation in Down Syndrome Modulates the Outcome of Gene-Dosage Imbalance(2007)198 cited