Author
Azienda Ospedaliera Universitaria SeneseORCID 0000-0001-6609-0983Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
F. Kyle Satterstrom, Chiara Auwerx, Jack M. Fu…·Mark J. Daly
The paper identifies 253 autism-associated genes using rare variation from 62,429 individuals and finds pleiotropy across physiological systems and developmental disorders.
Adam Jackson, Alexander J. M. Blakes, Bader Alhaddad…·Siddharth Banka
The paper identifies biallelic variants in RNU2-2 as a frequent cause of a severe developmental epileptic encephalopathy, distinct from a dominant disorder, and links them to reduced U2-2 abundance.
Elena Pasquinelli, Giulia Rollo, Flavia Tinella…·Alessandra Renieri
The paper validates the NovaSeq6000 RUO platform with automated library preparation for clinical-grade whole-exome sequencing, showing equivalence to the CE-IVD certified system.