Author
University of Campania "Luigi Vanvitelli"ORCID 0000-0003-2479-6018Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
6 papers
Recent·Most cited
German M. Demidov, Steven Laurie, Annalaura Torella…·Stephan Ossowski
This study identifies structural variants in 6224 rare disease exomes, finding 0.4% diagnostic yield with 8 previously undetected pathogenic SVs.
Elisabeth Bosch, Bernt Popp, Esther Güse…·Georgia Vasileiou
The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.
Erik Rosenhahn, Thomas James O’Brien, Maha Saad Zaki…·Konrad Platzer
Jeffrey Dennis Calhoun, Miriam C. Aziz, Hannah C. Happ…·Gemma L. Carvill
The paper identifies a founder variant in SZT2 associated with neurodevelopmental disorder and develops a method to distinguish pathogenic variants from VUSs in SZT2.
Francesco Musacchia, Marianthi Karali, Annalaura Torella…·Sandro Banfi
VarGenius-HZD detects rare homozygous and hemizygous deletions in targeted sequencing with higher sensitivity than existing tools.
Elisa Benetti, Rossella Tita, Ottavia Spiga…·Carmelo Piscopo
The paper identifies ACE2 gene variants associated with interindividual variability in COVID-19 susceptibility in the Italian population using whole-exome-sequencing data.