معرفی
Antonio Novelli is an Associate Professor at UniCamillus and Director of the Medical Genetics Laboratory at Children's Hospital Bambino Gesù in Rome since 2015. He holds academic roles at multiple institutions, including Clinical Pathology School at Campus Biomedico University, Tor Vergata University (School of Specialization in Medical Genetics), and the Faculty of Medical Sciences at the University of the Western Balkans in Tirana. His research focuses on medical genetics, cytogenomics, and molecular genetics technologies applied to Mendelian diseases and prenatal diagnostics.
He has contributed to national and international guidelines, including the SIGU Cytogenetics Guidelines (2013), recommendations for prenatal Chromosomal Microarray Analysis (2015/17), and Italian Ministry of Health's NIPT guidelines (2015/16/21). He co-leads the EU-IMI Screen4Care project and participates in the international COVID Human Genetic Effort (CHGE) consortium.
With over 429 publications (Scopus) and an h-index of 38, his work spans clinical genetics, diagnostic methodologies, and translational research. He has served in quality control roles for cytogenetics (CEQA Eurogentest) and holds memberships in the Italian Society of Human Genetics (SIGU), where he previously coordinated the Cytogenetics working group.
