Antonio Novelli is the Director of the Medical Genetics Laboratory of Children’s Hospital Bambino Gesù in Roma since 2015.
He is a Professor of Medical Genetics at the Departmental Faculty of Medicine, UniCamillus — International Medical University in Rome.
He is also a co-inventor of the industrial invention patent No. 102023000006801, entitled: “Method for calculating the risk score of adverse prognosis in respiratory viral infections using the host’s genomic profile”, filed with the Ministry of Enterprises and Made in Italy, Department of Market and Protection, Directorate General for Industrial Property – UIBM.
He is the scientific coordinator of the Master in Cytogenetics and Cytogenomics, at the Tor Vergata University.
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.
He is a Member of the Italian Society of Human Genetics (SIGU) and 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
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), and supervises the OPBG sequencing platform Hub for the genetic neonatal screening.
He is a member of the international consortium, the COVID Human Genetic Effort (CHGE)
He is the author and co-author of over 480 publications in international journals with medium to high impact factor. His main research topics include Genomics, Intellectual Disability, Copy Number Variations, and genetic and genomic syndromes. Scientific impact (h-index): 41
https://www.scopus.com/authid/detail.uri?authorId=7005749853 https://pubmed.ncbi.nlm.nih.gov/?term=novelli+antonio&sort=pubdate
https://orcid.org/0000-0002-9037-4297
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