Antonio Novelli is the Director of the Medical Genetics Laboratory of Children’s Hospital Bambino Gesù in Roma since 2015.
His scientific activity is focused on medical genetics and Mendelian diseases with the implementation of the most advanced cytogenomics and molecular genetics technologies.
He is Professor at Clinical Pathology School, Campus Biomedico University.
At Tor Vergata University he is professor of the School of Specialization in Medical Genetics as well as scientific co-coordinator of the II level Specialising Master in Cytogenetics and Cytogenomics.
He is professor of Cytogenomics at the Faculty of Medical Sciences, at the University of the Western Balkans in Tirana (Albania) from 2022.

Associate Professor at UniCamillus.

Since 2010 he is a member of the Italian Society of Human Genetics (SIGU) where from 2010 to 2016 was the National Coordinator of the SIGU Cytogenetics working group.
He coordinated and drafted the SIGU Cytogenetics Guidelines in 2013 and the Recommendations for the prenatal use of Chromosomal Microarray Analysis in 2015 and 2017.
He participated to the drafting of the Italian Prenatal Non-Invasive Screening Guidelines (Non Invasive Prenatal Testing – NIPT) published by Italian Ministry of Health in 2015, in 2016 and in 2021. He participated to the drafting of the Transfer of Omics Techniques in clinical practice published by Italian Ministry of Health in 2021.
Furthermore, he was Prenatal Assessor for CEQA (Cytogenetic European Quality Assessment) Eurogentest and Assessor for Cytogenetics external quality control for National Cytogenetics quality control.
He is coPrincipal Investigator of the Screen4Care EU-IMI project (www.screen4care.eu).
He is a member of the international consortium, the COVID Human Genetic Effort (CHGE).
He has contributed to over 400 scientific publications, as first, last or contributing author.

According Scopus his current h-index is 38 .

Total publications: 429 (scopus source)

Scopus H-index: 38

ORCID: 0000-0002-9037-4297

Scopus Author ID: 7005749853

Web of Science ResearcherID: K-4035-2016